Variant report

Variant	rs8007988
Chromosome Location	chr14:37637291-37637292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr14:37636808-37637367	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr14:37636876-37637377	K562	blood:	n/a	n/a
3	EP300	chr14:37636752-37637313	K562	blood:	n/a	n/a
4	POLR2A	chr14:37636075-37637642	H1-hESC	embryonic stem cell:	n/a	n/a
5	NANOG	chr14:37636955-37637309	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr14:37637050-37637331	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr14:37636807-37637393	H1-hESC	embryonic stem cell:	n/a	n/a
8	TCF12	chr14:37637010-37637294	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr14:37636783-37637302	K562	blood:	n/a	n/a
10	ATF2	chr14:37636749-37637333	H1-hESC	embryonic stem cell:	n/a	n/a
11	HDAC2	chr14:37637064-37637296	H1-hESC	embryonic stem cell:	n/a	n/a
12	EP300	chr14:37636810-37637359	H1-hESC	embryonic stem cell:	n/a	n/a
13	TBP	chr14:37636802-37637428	H1-hESC	embryonic stem cell:	n/a	n/a
14	TAF1	chr14:37636721-37637405	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr14:37636824-37637411	H1-hESC	embryonic stem cell:	n/a	n/a
16	SP1	chr14:37636848-37637512	H1-hESC	embryonic stem cell:	n/a	n/a
17	GATA1	chr14:37636539-37637341	PBDE	blood:	n/a	n/a
18	POLR2A	chr14:37636880-37638654	PBDE	blood:	n/a	n/a
19	POLR2A	chr14:37636931-37637316	K562	blood:	n/a	n/a
20	POLR2A	chr14:37636695-37637470	H1-hESC	embryonic stem cell:	n/a	n/a
21	JUND	chr14:37636886-37637516	H1-hESC	embryonic stem cell:	n/a	n/a
22	TBP	chr14:37636955-37637451	K562	blood:	n/a	n/a
23	RCOR1	chr14:37636351-37637342	K562	blood:	n/a	n/a
24	ATF2	chr14:37636807-37637410	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr14:37636853-37637510	H1-hESC	embryonic stem cell:	n/a	n/a
26	SP1	chr14:37636875-37637474	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr14:37636915-37637440	K562	blood:	n/a	n/a
28	JUN	chr14:37636465-37637536	K562	blood:	n/a	n/a
29	YY1	chr14:37637083-37637409	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:37619150..37623313-chr14:37636849..37639143,3	K562	blood:
2	chr14:37635891..37637422-chr14:37666864..37668416,2	MCF-7	breast:
3	chr14:37636501..37638947-chr14:37664211..37667966,4	K562	blood:

No data

Variant related genes	Relation type
SLC25A21-AS1	TF binding region
ENSG00000151338	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10130026	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134334	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139302	0.86[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs10140952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148606	0.85[CHB][hapmap]
rs10483487	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10483488	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12100470	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12101262	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17106324	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17106327	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17106328	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17106343	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17106347	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17106358	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17106368	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17106374	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17106381	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17106401	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17106410	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17106412	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17106437	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17106466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106483	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106510	1.00[CEU][hapmap]
rs1955757	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1955759	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2180094	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2415387	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41512348	1.00[TSI][hapmap]
rs4900688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4906569	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap]
rs4906577	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4906593	0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs56184135	0.86[EUR][1000 genomes]
rs56905022	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56933807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57011324	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57235476	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57291540	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57843803	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58262791	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58398434	0.85[EUR][1000 genomes]
rs58473518	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59508104	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60439332	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60853724	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60921013	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66496057	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66862591	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67441823	0.85[EUR][1000 genomes]
rs7140725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7149379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7151756	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72669543	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72669551	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72669558	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72669566	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72669579	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669586	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669588	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72669602	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8005504	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs8008529	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8008737	0.86[EUR][1000 genomes]
rs8015791	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9672074	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9888585	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534288	chr14:37254539-37697745	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1050174	chr14:37556357-37664143	Active TSS Flanking Active TSS Enhancers Weak transcription 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	10 gene(s)	inside rSNPs	diseases
3	nsv1043410	chr14:37556357-37671059	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv915783	chr14:37607836-38002966	Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1036854	chr14:37609535-38013533	Active TSS ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv542045	chr14:37609535-38013533	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv901635	chr14:37623177-37782273	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3528451	chr14:37631483-37771365	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv3527359	chr14:37631504-37771435	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	esv3370191	chr14:37631508-37771354	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	esv3527360	chr14:37631521-37771311	Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv3528462	chr14:37631535-37771345	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	esv3528473	chr14:37631543-37771255	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	esv3527361	chr14:37631554-37771408	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	esv3528484	chr14:37631599-37771228	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	esv3527363	chr14:37631608-37771230	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	esv3310838	chr14:37636091-37639750	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	esv3310839	chr14:37636091-37639750	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37630000-37638000	Weak transcription	Pancreas	Pancrea
2	chr14:37636000-37638600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr14:37636400-37638600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr14:37636400-37638600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:37636400-37638800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr14:37636400-37638800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr14:37636800-37639000	Flanking Active TSS	K562	blood
8	chr14:37637200-37637400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:37637200-37637600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr14:37637200-37637600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr14:37637200-37637600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr14:37637200-37637600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr14:37637200-37638000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr14:37637200-37638200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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