Variant report

Variant	rs6489454
Chromosome Location	chr12:475794-475795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:473052..475840-chr12:477917..479467,2	K562	blood:
2	chr12:472149..473875-chr12:474814..477181,2	K562	blood:
3	chr12:475322..477819-chr12:485122..486819,2	K562	blood:

Extended variants
information (count: 142 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10431354	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10431355	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10744616	0.93[EUR][1000 genomes]
rs10774137	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10774150	0.94[EUR][1000 genomes]
rs10774152	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[GIH][hapmap];0.94[MEX][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10774153	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10774163	0.90[CEU][hapmap]
rs10774169	0.90[CEU][hapmap];0.91[CHB][hapmap];0.84[MEX][hapmap]
rs10774170	0.85[CEU][hapmap]
rs10848715	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10848716	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10848814	0.83[AMR][1000 genomes]
rs10848815	0.83[AMR][1000 genomes]
rs10848838	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10848845	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10848849	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10848868	0.82[EUR][1000 genomes]
rs10848879	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10848905	0.90[CEU][hapmap];0.81[GIH][hapmap];0.82[TSI][hapmap]
rs11062302	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11062385	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1155942	0.85[CEU][hapmap]
rs11611810	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11835325	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1207322	0.95[CEU][hapmap]
rs1207323	0.80[EUR][1000 genomes]
rs12298843	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12581260	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs12582850	0.95[CEU][hapmap]
rs1541463	0.89[CEU][hapmap]
rs1541464	0.85[CEU][hapmap]
rs1541465	0.85[CEU][hapmap]
rs16929744	0.83[AMR][1000 genomes]
rs16929783	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[AMR][1000 genomes]
rs1860360	0.95[CEU][hapmap];0.86[GIH][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs2015554	0.84[AMR][1000 genomes]
rs2052279	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2079785	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2098094	0.89[EUR][1000 genomes]
rs2159364	0.91[EUR][1000 genomes]
rs2229351	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2253565	0.90[CEU][hapmap]
rs2284332	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2300133	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300134	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2369276	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3213750	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap]
rs3753157	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3759371	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3782852	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3815558	0.95[CEU][hapmap];0.81[GIH][hapmap];0.94[TSI][hapmap]
rs479803	0.80[ASN][1000 genomes]
rs479836	0.83[ASN][1000 genomes]
rs486098	0.95[CEU][hapmap];0.81[GIH][hapmap]
rs495316	0.90[CEU][hapmap]
rs4980811	0.80[AMR][1000 genomes]
rs4980814	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs4980874	0.90[CEU][hapmap];0.91[CHB][hapmap];0.95[GIH][hapmap]
rs4980877	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[GIH][hapmap];0.89[MEX][hapmap];0.81[AMR][1000 genomes]
rs4980881	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs4980883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4980884	0.81[EUR][1000 genomes]
rs4980885	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4980886	0.86[AMR][1000 genomes]
rs520932	0.85[CEU][hapmap]
rs524468	0.85[CEU][hapmap];0.85[MEX][hapmap]
rs525381	0.95[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap]
rs570644	0.87[CHB][hapmap]
rs576159	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs576994	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs579526	0.85[CEU][hapmap];1.00[MEX][hapmap]
rs61907027	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6489448	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6489449	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6489450	0.91[EUR][1000 genomes]
rs6489458	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489463	0.87[AMR][1000 genomes]
rs6489471	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6489477	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6489478	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7132763	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[GIH][hapmap];0.94[MEX][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7134353	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[GIH][hapmap];0.94[MEX][hapmap];0.81[AMR][1000 genomes]
rs7134608	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135768	0.88[EUR][1000 genomes]
rs7136957	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7138890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138981	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs715228	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs715229	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs715230	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs720128	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs7298019	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs7298995	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7301422	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7303180	0.81[AMR][1000 genomes]
rs7311496	0.88[EUR][1000 genomes]
rs7312065	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7315852	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[GIH][hapmap];0.85[MEX][hapmap]
rs7316660	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs764614	0.80[AMR][1000 genomes]
rs7953137	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7963309	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7965303	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7977462	0.91[EUR][1000 genomes]
rs797759	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs797765	0.85[CEU][hapmap];0.90[MEX][hapmap]
rs7979745	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs887311	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949498	chr12:282465-493900	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1051726	chr12:282465-511843	Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv541304	chr12:282465-635505	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1042991	chr12:282465-666255	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1041574	chr12:282465-812000	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv541305	chr12:282465-1016828	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
7	nsv869390	chr12:282465-1045994	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv1049944	chr12:282465-1232077	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
9	nsv541306	chr12:282465-1232077	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	nsv1050781	chr12:321353-783899	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
11	nsv1040849	chr12:321619-771493	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv541322	chr12:321619-771493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	nsv1035679	chr12:321619-781558	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	nsv1053519	chr12:321619-828175	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
15	nsv1044433	chr12:321619-1065402	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
16	nsv541323	chr12:321619-1065402	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
17	nsv898563	chr12:332860-493900	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	esv2757484	chr12:335010-543206	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
19	esv2759875	chr12:335010-990544	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
20	nsv1045638	chr12:349031-893536	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
21	nsv541325	chr12:349031-893536	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
22	nsv1050646	chr12:362398-658665	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
23	nsv541326	chr12:362398-658665	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
24	nsv949469	chr12:380411-1122450	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
25	nsv898565	chr12:428131-564185	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
26	nsv1052201	chr12:429128-515675	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
27	nsv541328	chr12:429128-515675	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
28	nsv442250	chr12:432808-543847	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
29	esv2756520	chr12:433151-543206	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
30	nsv1050226	chr12:441032-743195	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
31	nsv1035222	chr12:449993-515675	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
32	esv2758290	chr12:457433-990544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6489454	JARID1A	Cis_1M	lymphoblastoid	RTeQTL
rs6489454	CCDC77	cis	parietal	SCAN
rs6489454	CCDC77	cis	Artery Tibial	GTEx
rs6489454	CCDC77	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:457400-478800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr12:457600-479200	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr12:457600-480000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr12:457800-478000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:458200-478200	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:462000-478600	Strong transcription	Stomach Smooth Muscle	stomach
7	chr12:462400-479200	Strong transcription	Osteobl	bone
8	chr12:465800-477200	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr12:466400-477400	Strong transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:467200-479200	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr12:467600-476800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:467800-477000	Strong transcription	Rectal Smooth Muscle	rectum
13	chr12:467800-477200	Strong transcription	HepG2	liver
14	chr12:468000-479800	Strong transcription	HSMM	muscle
15	chr12:468400-477200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:468400-479600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:468600-476800	Strong transcription	Colon Smooth Muscle	Colon
18	chr12:469200-478200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:469200-479800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:469800-478400	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr12:470400-476800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:470600-476200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:470600-478000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:470600-478200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:471400-477400	Weak transcription	K562	blood
26	chr12:472800-476200	Weak transcription	Psoas Muscle	Psoas
27	chr12:473400-476000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr12:473400-476600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:473600-476000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr12:473800-477200	Strong transcription	HSMMtube	muscle
31	chr12:473800-478000	Strong transcription	HUVEC	blood vessel
32	chr12:473800-479200	Strong transcription	Brain Substantia Nigra	brain
33	chr12:474000-476200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:474000-479200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr12:474200-475800	Strong transcription	NHLF	lung
36	chr12:474200-476000	ZNF genes & repeats	Fetal Muscle Leg	muscle
37	chr12:474400-478400	Strong transcription	NHDF-Ad	bronchial
38	chr12:474600-476200	Strong transcription	HMEC	breast
39	chr12:474600-477000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:474600-477000	Strong transcription	Brain Angular Gyrus	brain
41	chr12:474600-477000	Strong transcription	Colonic Mucosa	Colon
42	chr12:474600-477600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:474600-477600	Strong transcription	Brain Anterior Caudate	brain
44	chr12:474600-478000	Strong transcription	Ovary	ovary
45	chr12:474600-478400	Strong transcription	Brain Cingulate Gyrus	brain
46	chr12:474600-478400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr12:474600-478400	Strong transcription	Fetal Brain Male	brain
48	chr12:474600-478400	Strong transcription	Fetal Intestine Large	intestine
49	chr12:474600-478600	Strong transcription	Left Ventricle	heart
50	chr12:474600-479200	Strong transcription	Primary B cells from cord blood	blood

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