Variant report

Variant	rs1416738
Chromosome Location	chr9:71787927-71787928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:71787866-71788024	HepG2	liver:	n/a	n/a
2	CEBPB	chr9:71787896-71788192	K562	blood:	n/a	n/a
3	FOS	chr9:71787837-71788007	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr9:71787068-71792412	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr9:71787873-71788119	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr9:71787790-71792027	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr9:71787712-71788197	MCF10A-Er-Src	breast:	n/a	chr9:71788027-71788035
8	STAT3	chr9:71787689-71788463	MCF10A-Er-Src	breast:	n/a	chr9:71788027-71788035
9	MAFF	chr9:71787895-71787940	K562	blood:	n/a	n/a
10	CEBPB	chr9:71787881-71788199	HepG2	liver:	n/a	n/a
11	MYC	chr9:71787814-71788208	MCF10A-Er-Src	breast:	n/a	chr9:71787840-71787849
12	CEBPD	chr9:71787904-71788120	HepG2	liver:	n/a	n/a
13	FOS	chr9:71787821-71788200	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr9:71787635-71788318	MCF10A-Er-Src	breast:	n/a	chr9:71788027-71788035
15	MXI1	chr9:71787907-71790914	SK-N-SH	brain:	n/a	n/a
16	CEBPB	chr9:71787924-71788209	Hela-S3	cervix:	n/a	n/a
17	STAT3	chr9:71787711-71788341	MCF10A-Er-Src	breast:	n/a	chr9:71788027-71788035
18	FOS	chr9:71787894-71788182	MCF10A-Er-Src	breast:	n/a	n/a
19	CEBPB	chr9:71787873-71788207	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71733168..71738729-chr9:71786929..71793777,10	MCF-7	breast:
2	chr9:71780838..71784047-chr9:71785849..71788919,3	MCF-7	breast:

Variant related genes	Relation type
TJP2	TF binding region
ENSG00000119139	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10114342	0.88[EUR][1000 genomes]
rs10114369	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10114632	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10115134	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10115283	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10122932	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs10124710	0.91[EUR][1000 genomes]
rs10125494	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10217120	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10217168	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10283782	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10735655	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs10781440	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10781456	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10869956	0.87[ASN][1000 genomes]
rs10869961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10869975	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10869976	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10869992	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs10869993	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs10869994	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs10869997	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs11145460	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11145463	0.85[EUR][1000 genomes]
rs11145484	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11145502	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11145748	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12056979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13283073	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13289984	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13301644	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13302681	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1339546	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1538584	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17062237	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs1934263	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2275428	0.83[ASN][1000 genomes]
rs2309422	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs2309424	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2309425	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs2309426	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs2486451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2486452	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2498439	0.96[ASN][1000 genomes]
rs28711298	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2993820	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs3002379	0.81[JPT][hapmap]
rs3002382	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs34872796	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34883177	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4076287	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4375066	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs4406474	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4421408	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4576478	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs4592105	1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4744829	0.91[EUR][1000 genomes]
rs4745622	0.84[EUR][1000 genomes]
rs4745650	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4745656	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4745671	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4745691	0.95[ASN][1000 genomes]
rs4745692	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4745701	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4745703	0.86[ASN][1000 genomes]
rs59620993	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6560584	0.96[CEU][hapmap];0.94[CHB][hapmap];0.81[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs6560585	0.96[CEU][hapmap];0.94[CHB][hapmap];0.81[GIH][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs6560589	0.91[EUR][1000 genomes]
rs7024540	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7026653	0.87[EUR][1000 genomes]
rs7029627	0.87[EUR][1000 genomes]
rs7030146	0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7034179	0.88[EUR][1000 genomes]
rs7034303	0.96[CEU][hapmap];0.94[CHB][hapmap];0.81[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs7038833	0.89[EUR][1000 genomes]
rs7043149	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.98[ASN][1000 genomes]
rs7048094	0.88[EUR][1000 genomes]
rs7048095	0.88[EUR][1000 genomes]
rs7048492	0.88[EUR][1000 genomes]
rs7048937	0.96[CEU][hapmap];0.94[CHB][hapmap];0.81[GIH][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs7467352	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7849519	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7850547	0.88[EUR][1000 genomes]
rs7850573	0.96[CEU][hapmap];0.94[CHB][hapmap];0.81[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs7850766	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs7855817	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7857404	0.89[ASN][1000 genomes]
rs7860124	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7862404	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7865373	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs867346	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs884428	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs884429	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs9314865	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9410789	0.95[ASN][1000 genomes]
rs953812	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv1035823	chr9:71465139-71901672	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv466396	chr9:71471912-71935577	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv614548	chr9:71471912-71935577	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv1051798	chr9:71511805-71792032	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv1035477	chr9:71511927-71959487	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv466397	chr9:71574757-71843023	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv614550	chr9:71574757-71843023	Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv1050692	chr9:71578494-71843023	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv893416	chr9:71597840-71888601	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
18	nsv1040539	chr9:71600042-71844108	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv540149	chr9:71600042-71844108	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	nsv949664	chr9:71607398-71842391	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv948708	chr9:71632265-71842391	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv1037787	chr9:71635338-71807648	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
23	nsv540151	chr9:71635338-71807648	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
24	nsv817209	chr9:71675454-71829412	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
25	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
26	nsv508550	chr9:71679166-71809433	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
27	nsv893427	chr9:71762766-71858517	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
28	esv3374178	chr9:71787757-71790305	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1416738	FXN	cis	cerebellum	SCAN
rs1416738	TJP2	Cis_1M	lymphoblastoid	RTeQTL
rs1416738	TJP2	cis	lymphoblastoid	seeQTL
rs1416738	GDA	cis	parietal	SCAN
rs1416738	TJP2	cis	Whole Blood	GTEx

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71752000-71788600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:71755600-71788600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:71765000-71788600	Weak transcription	Gastric	stomach
4	chr9:71769000-71788000	Weak transcription	Fetal Kidney	kidney
5	chr9:71770600-71788600	Weak transcription	Esophagus	oesophagus
6	chr9:71770800-71788400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr9:71770800-71788800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr9:71776200-71788000	Weak transcription	Pancreas	Pancrea
9	chr9:71777400-71788400	Weak transcription	Right Atrium	heart
10	chr9:71779600-71788600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr9:71781400-71788600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:71783800-71788200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr9:71783800-71788400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:71784000-71788200	Weak transcription	Fetal Lung	lung
15	chr9:71784000-71788400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:71784200-71788000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr9:71784200-71788400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr9:71784200-71788400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr9:71784400-71788000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr9:71784400-71788200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr9:71784600-71788000	Weak transcription	GM12878-XiMat	blood
22	chr9:71785000-71788000	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr9:71785800-71788600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr9:71786000-71788200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr9:71786000-71788400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr9:71786000-71788400	Enhancers	Liver	Liver
27	chr9:71786400-71788200	Enhancers	HepG2	liver
28	chr9:71786400-71788400	Enhancers	K562	blood
29	chr9:71786400-71788600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr9:71786600-71788000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr9:71786600-71788000	Weak transcription	Adipose Nuclei	Adipose
32	chr9:71786600-71788200	Weak transcription	Stomach Mucosa	stomach
33	chr9:71786600-71788200	Enhancers	HUVEC	blood vessel
34	chr9:71786600-71788200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr9:71786600-71788400	Enhancers	HMEC	breast
36	chr9:71787200-71788200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr9:71787200-71788200	Enhancers	NHLF	lung
38	chr9:71787200-71788600	Enhancers	Fetal Intestine Large	intestine
39	chr9:71787600-71788600	Enhancers	Placenta	Placenta
40	chr9:71787800-71788000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr9:71787800-71788000	Enhancers	Colon Smooth Muscle	Colon
42	chr9:71787800-71788000	Enhancers	Fetal Intestine Small	intestine
43	chr9:71787800-71788000	Enhancers	Fetal Muscle Leg	muscle
44	chr9:71787800-71788000	Enhancers	Lung	lung
45	chr9:71787800-71788200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
46	chr9:71787800-71788200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
47	chr9:71787800-71788200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
48	chr9:71787800-71788200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:71787800-71788200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr9:71787800-71788200	Enhancers	Fetal Heart	heart

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