Variant report

Variant	rs4316813
Chromosome Location	chr17:16918570-16918571
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	CEBPB	chr17:16918561-16918935	Hela-S3	cervix:	n/a	chr17:16918744-16918755
2	POLR2A	chr17:16917775-16918614	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16917707..16920531-chr17:16944662..16947361,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260328	TF binding region
ENSG00000133030	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12601193	0.92[JPT][hapmap]
rs12601453	1.00[JPT][hapmap]
rs12602196	1.00[JPT][hapmap]
rs12602675	0.83[JPT][hapmap]
rs16961396	0.92[JPT][hapmap]
rs2292528	0.92[JPT][hapmap]
rs3744126	0.92[JPT][hapmap]
rs3744135	0.92[JPT][hapmap]
rs3803762	0.92[JPT][hapmap]
rs4078534	1.00[JPT][hapmap]
rs41319048	0.92[JPT][hapmap]
rs6502557	0.83[JPT][hapmap]
rs8064771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8068857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs8069049	1.00[CEU][hapmap]
rs8069441	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2761948	chr17:16868561-16920568	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv907727	chr17:16892265-16938582	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv962271	chr17:16912264-16922846	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16903200-16921000	Weak transcription	Lung	lung
2	chr17:16905800-16920000	Weak transcription	Fetal Intestine Large	intestine
3	chr17:16906800-16923400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr17:16913600-16918600	Weak transcription	Pancreas	Pancrea
5	chr17:16913600-16921000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr17:16914800-16918600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:16914800-16919000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr17:16915000-16923600	Weak transcription	HSMMtube	muscle
9	chr17:16915200-16920000	Weak transcription	Fetal Intestine Small	intestine
10	chr17:16917400-16918800	Flanking Active TSS	Hela-S3	cervix
11	chr17:16917400-16919000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr17:16917400-16919200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr17:16917400-16919400	Enhancers	NHEK	skin
14	chr17:16917400-16920200	Enhancers	HMEC	breast
15	chr17:16917400-16922000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr17:16917400-16923800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr17:16917400-16926200	Enhancers	Stomach Mucosa	stomach
18	chr17:16917600-16918600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr17:16917600-16918600	Enhancers	HUVEC	blood vessel
20	chr17:16917600-16918600	Enhancers	NH-A	brain
21	chr17:16917600-16918600	Enhancers	Osteobl	bone
22	chr17:16917600-16919000	Enhancers	Esophagus	oesophagus
23	chr17:16917600-16919000	Enhancers	Gastric	stomach
24	chr17:16917800-16918600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr17:16918000-16918800	Enhancers	HSMM	muscle
26	chr17:16918000-16922000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr17:16918000-16922000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr17:16918000-16926200	Enhancers	Placenta	Placenta
29	chr17:16918200-16918800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr17:16918200-16918800	Weak transcription	Brain Anterior Caudate	brain
31	chr17:16918200-16922000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr17:16918400-16918600	Enhancers	K562	blood
33	chr17:16918400-16919200	Enhancers	Duodenum Mucosa	Duodenum
34	chr17:16918400-16920200	Enhancers	A549	lung
35	chr17:16918400-16920600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr17:16918400-16922000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr17:16918400-16922000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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