Variant report

Variant	rs539894713
Chromosome Location	chr17:37608749-37608750
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:37608144-37608912	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr17:37606823-37609040	MCF10A-Er-Src	breast:	n/a	n/a
3	FOXA2	chr17:37608578-37608843	HepG2	liver:	n/a	n/a
4	POLR2A	chr17:37608109-37608900	HepG2	liver:	n/a	n/a
5	POLR2A	chr17:37606768-37608899	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37557413..37559525-chr17:37605171..37609188,5	K562	blood:
2	chr17:37604386..37611889-chr17:37616048..37620931,25	K562	blood:
3	chr17:37605291..37610010-chr17:37614517..37620203,14	MCF-7	breast:
4	chr17:37604313..37610125-chr17:37615155..37621784,15	MCF-7	breast:
5	chr17:37604291..37611614-chr17:37614953..37621274,26	K562	blood:

No data

Variant related genes	Relation type
MED1	TF binding region
ENSG00000266469	Chromatin interaction
ENSG00000108306	Chromatin interaction
ENSG00000167258	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers 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	72 gene(s)	inside rSNPs	diseases
4	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
6	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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	44 gene(s)	inside rSNPs	diseases
10	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
11	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv1063848	chr17:37575622-37707592	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	nsv827984	chr17:37608583-37609302	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37606600-37608800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr17:37607800-37608800	Enhancers	Spleen	Spleen
3	chr17:37608200-37608800	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr17:37608200-37608800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr17:37608200-37608800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:37608200-37608800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr17:37608200-37608800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr17:37608200-37608800	Enhancers	Pancreas	Pancrea
9	chr17:37608200-37608800	Enhancers	Right Ventricle	heart
10	chr17:37608200-37611000	Enhancers	Fetal Intestine Large	intestine
11	chr17:37608400-37608800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr17:37608400-37608800	Enhancers	K562	blood
13	chr17:37608400-37608800	Enhancers	NHEK	skin
14	chr17:37608400-37609000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr17:37608400-37612000	Enhancers	Liver	Liver
16	chr17:37608400-37616800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr17:37608400-37617200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr17:37608600-37608800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr17:37608600-37608800	Enhancers	GM12878-XiMat	blood
20	chr17:37608600-37609000	Weak transcription	Fetal Intestine Small	intestine
21	chr17:37608600-37609000	Enhancers	Dnd41	blood
22	chr17:37608600-37609000	Enhancers	HepG2	liver
23	chr17:37608600-37609800	Weak transcription	A549	lung
24	chr17:37608600-37614000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr17:37608600-37616800	Weak transcription	Hela-S3	cervix
26	chr17:37608600-37617200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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