Variant report

Variant	rs541575322
Chromosome Location	chr7:6010243-6010244
allele	G/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	chr7:6009707-6012277	GM12892	blood:	n/a	n/a
2	POLR2A	chr7:6009975-6010441	A549	lung:	n/a	n/a
3	TCF3	chr7:6010086-6010494	GM12878	blood:	n/a	chr7:6010394-6010408 chr7:6010396-6010406
4	TAF1	chr7:6009961-6010431	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:6010239-6011342	GM12878	blood:	n/a	n/a
6	REST	chr7:6010229-6010544	H1-hESC	embryonic stem cell:	n/a	chr7:6010243-6010256 chr7:6010453-6010466
7	POLR2A	chr7:6009761-6010288	MCF-7	breast:	n/a	n/a
8	POLR2A	chr7:6009974-6010506	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:6010102-6010736	GM12878	blood:	n/a	n/a
10	PAX5	chr7:6010084-6010457	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:6009731-6012275	GM12892	blood:	n/a	n/a
12	REST	chr7:6010210-6010529	H1-hESC	embryonic stem cell:	n/a	chr7:6010243-6010256 chr7:6010222-6010236 chr7:6010453-6010466
13	POLR2A	chr7:6009743-6011880	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr7:6009722-6011326	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr7:6009890-6010774	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr7:6009818-6012210	GM12891	blood:	n/a	n/a
17	POLR2A	chr7:6009977-6010498	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:6009891-6010297	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr7:6009824-6010611	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr7:6009039-6012387	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:6009788-6010797	GM12891	blood:	n/a	n/a
22	POLR2A	chr7:6009766-6010811	GM12891	blood:	n/a	n/a
23	POLR2A	chr7:6009535-6010739	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr7:6009772-6010729	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr7:6010182-6010360	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr7:6010036-6010439	A549	lung:	n/a	n/a
27	POLR2A	chr7:6009896-6011361	GM12892	blood:	n/a	n/a
28	POLR2A	chr7:6009593-6010810	SK-N-MC	brain:	n/a	n/a
29	POLR2A	chr7:6010002-6010499	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr7:6010006-6010425	A549	lung:	n/a	n/a
31	TAF1	chr7:6010087-6010475	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr7:6010051-6010444	A549	lung:	n/a	n/a
33	FOSL2	chr7:6010019-6010528	HepG2	liver:	n/a	n/a
34	POLR2A	chr7:6009994-6010490	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr7:6009000-6010715	HepG2	liver:	n/a	n/a
36	POLR2A	chr7:6009692-6011332	K562	blood:	n/a	n/a

Variant related genes	Relation type
RSPH10B	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
2	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
3	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
4	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription 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 miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
5	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
6	nsv1034215	chr7:5748982-6056619	Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
7	nsv1016690	chr7:5749222-6056619	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
8	nsv1027679	chr7:5760731-6056619	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
9	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
10	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
11	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
12	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
13	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
14	nsv433017	chr7:5853557-6045391	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv1017061	chr7:5885326-6026706	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv830894	chr7:5889658-6072215	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
17	nsv1034916	chr7:5934780-6158970	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
18	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
19	nsv970789	chr7:5958445-6027048	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv8037	chr7:6010076-6018230	Weak transcription Strong transcription Active TSS Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6010000-6010400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr7:6010000-6010400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:6010000-6010400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:6010000-6010400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:6010000-6010400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:6010000-6010400	Active TSS	Fetal Brain Female	brain
7	chr7:6010200-6010400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:6010200-6017200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:6010200-6018400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:6010200-6018600	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:6010200-6021200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:6010200-6026600	Weak transcription	Lung	lung
13	chr7:6010200-6026800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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