Variant report

Variant	rs73009617
Chromosome Location	chr1:151790251-151790252
allele	A/G
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	E2F6	chr1:151789842-151790332	H1-hESC	embryonic stem cell:	n/a	chr1:151790128-151790143 chr1:151790122-151790137
2	E2F6	chr1:151789920-151790265	H1-hESC	embryonic stem cell:	n/a	chr1:151790128-151790143 chr1:151790122-151790137

No.	Distal block	Cell Line	Cell type
1	chr1:151779245..151781251-chr1:151789971..151792071,2	K562	blood:
2	chr1:151749151..151752129-chr1:151789791..151791884,2	MCF-7	breast:
3	chr1:151777634..151779857-chr1:151790173..151792393,2	MCF-7	breast:
4	chr1:151789315..151792282-chr1:151793123..151796667,3	MCF-7	breast:
5	chr1:151789798..151791316-chr1:151791321..151793300,2	MCF-7	breast:
6	chr1:151789925..151792025-chr1:151796878..151798485,2	K562	blood:
7	chr1:151768081..151769884-chr1:151790238..151792555,2	MCF-7	breast:
8	chr1:151789037..151791366-chr1:151802324..151804335,2	K562	blood:
9	chr1:151778487..151781437-chr1:151789485..151791157,2	K562	blood:

Variant related genes	Relation type
RORC	TF binding region
ENSG00000143365	Chromatin interaction
ENSG00000213171	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12097336	0.86[AFR][1000 genomes]
rs4308981	0.91[AFR][1000 genomes]
rs59245141	0.91[AFR][1000 genomes]
rs59917650	0.91[AFR][1000 genomes]
rs7546811	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010398	chr1:151761649-151790940	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv516369	chr1:151780177-151820324	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv1804657	chr1:151784152-151825756	Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv1008033	chr1:151785029-151843154	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv160848	chr1:151789609-151796769	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151764200-151792800	Weak transcription	Lung	lung
2	chr1:151778400-151792800	Weak transcription	Left Ventricle	heart
3	chr1:151778600-151792000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:151778600-151802400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:151780000-151793400	Weak transcription	Stomach Mucosa	stomach
6	chr1:151782000-151791000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:151782800-151790400	Strong transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:151783600-151790800	Strong transcription	Pancreas	Pancrea
9	chr1:151783600-151791400	Weak transcription	Hela-S3	cervix
10	chr1:151783800-151792000	Weak transcription	Psoas Muscle	Psoas
11	chr1:151784800-151794600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:151784800-151794800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:151786600-151791000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr1:151786600-151793600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr1:151786800-151793600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:151786800-151795000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:151787000-151790600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:151787000-151791600	Enhancers	Fetal Muscle Leg	muscle
19	chr1:151787200-151790400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:151787200-151790800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:151787400-151800000	Weak transcription	Spleen	Spleen
22	chr1:151787600-151791000	Enhancers	Primary hematopoietic stem cells	blood
23	chr1:151788200-151793200	Transcr. at gene 5' and 3'	Thymus	Thymus
24	chr1:151788200-151796800	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
25	chr1:151788800-151790600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr1:151788800-151792200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:151789000-151790400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr1:151789000-151791000	Enhancers	Esophagus	oesophagus
29	chr1:151789000-151792000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:151789000-151792400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr1:151789000-151793000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:151789400-151790600	Flanking Active TSS	Dnd41	blood
33	chr1:151789400-151791600	Genic enhancers	Liver	Liver
34	chr1:151789400-151794400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr1:151789400-151794600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:151789600-151790400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr1:151789600-151792000	Weak transcription	Gastric	stomach
38	chr1:151789600-151792400	Weak transcription	Right Ventricle	heart
39	chr1:151789600-151793600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:151789800-151790400	Enhancers	Primary B cells from peripheral blood	blood
41	chr1:151789800-151790600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:151790000-151790400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr1:151790000-151790400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr1:151790000-151792800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:151790000-151793200	Weak transcription	Fetal Intestine Small	intestine
46	chr1:151790000-151799000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:151790200-151790600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr1:151790200-151792400	Weak transcription	Primary T cells from cord blood	blood
49	chr1:151790200-151792400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:151790200-151792400	Weak transcription	Adipose Nuclei	Adipose

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