Variant report

Variant	rs61997076
Chromosome Location	chr15:31216225-31216226
allele	C/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	chr15:31216045-31216506	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
FAN1	TF binding region
ENSG00000270015	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11293	0.82[AMR][1000 genomes]
rs11634216	0.86[AMR][1000 genomes]
rs11637469	0.82[AMR][1000 genomes]
rs11638409	0.86[AMR][1000 genomes]
rs12906054	0.84[AMR][1000 genomes]
rs2140734	0.80[AMR][1000 genomes]
rs2339114	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3512	0.82[AMR][1000 genomes]
rs35239376	0.88[AMR][1000 genomes]
rs35396566	0.92[AMR][1000 genomes]
rs35607976	0.88[AMR][1000 genomes]
rs35811129	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61997079	0.82[AMR][1000 genomes]
rs61997142	0.86[AMR][1000 genomes]
rs798084	0.85[AFR][1000 genomes]
rs8031584	0.84[AMR][1000 genomes]
rs8034856	0.82[AMR][1000 genomes]
rs890159	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427955	chr15:30467980-31273174	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv531138	chr15:30653877-31609679	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv916936	chr15:30921917-31337510	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv525795	chr15:30936285-31324531	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv533434	chr15:30938215-31244225	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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 miRNA target site	84 gene(s)	inside rSNPs	diseases
7	nsv1046874	chr15:31008133-31294654	Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
9	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
10	nsv832951	chr15:31131239-31304469	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1039037	chr15:31140415-31277268	Strong transcription ZNF genes & repeats Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv542309	chr15:31140415-31277268	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv1036018	chr15:31140415-31544888	Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
14	nsv521842	chr15:31140700-31272670	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv903834	chr15:31179534-31293774	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	esv33507	chr15:31183324-31471023	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
17	nsv832952	chr15:31204426-31333998	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31197000-31216400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr15:31198200-31224000	Strong transcription	Dnd41	blood
3	chr15:31200200-31224000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:31200400-31221200	Strong transcription	Placenta	Placenta
5	chr15:31200400-31223200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:31200400-31242200	Strong transcription	Primary T cells from cord blood	blood
7	chr15:31200600-31254800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr15:31201200-31224000	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr15:31201200-31241400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:31204200-31224000	Strong transcription	Stomach Smooth Muscle	stomach
11	chr15:31204400-31223200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr15:31204400-31223200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr15:31204400-31223400	Strong transcription	Fetal Stomach	stomach
14	chr15:31204400-31223600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr15:31204400-31224000	Strong transcription	Duodenum Mucosa	Duodenum
16	chr15:31204600-31223000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr15:31204600-31224000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:31205000-31224000	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr15:31206000-31223200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr15:31206800-31223400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr15:31207400-31217600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
22	chr15:31208400-31223800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr15:31208400-31224000	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr15:31209000-31223200	Strong transcription	Esophagus	oesophagus
25	chr15:31209000-31223200	Strong transcription	Fetal Intestine Small	intestine
26	chr15:31209000-31224000	Strong transcription	Ovary	ovary
27	chr15:31210400-31217600	Strong transcription	Hela-S3	cervix
28	chr15:31210400-31222800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr15:31210600-31223400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr15:31211800-31223000	Strong transcription	Rectal Smooth Muscle	rectum
31	chr15:31212000-31220200	Strong transcription	Primary hematopoietic stem cells	blood
32	chr15:31212000-31223000	Strong transcription	Fetal Thymus	thymus
33	chr15:31212200-31219200	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr15:31212200-31224000	Strong transcription	Fetal Intestine Large	intestine
35	chr15:31212200-31224000	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr15:31212400-31219800	Strong transcription	HepG2	liver
37	chr15:31212400-31220200	Strong transcription	NHEK	skin
38	chr15:31212400-31223200	Strong transcription	Pancreas	Pancrea
39	chr15:31212600-31223400	Strong transcription	Thymus	Thymus
40	chr15:31212800-31216400	Genic enhancers	Fetal Muscle Leg	muscle
41	chr15:31212800-31217200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
42	chr15:31212800-31219200	Strong transcription	Lung	lung
43	chr15:31212800-31221600	Strong transcription	Spleen	Spleen
44	chr15:31212800-31223000	Strong transcription	Colonic Mucosa	Colon
45	chr15:31212800-31223200	Strong transcription	Aorta	Aorta
46	chr15:31212800-31224000	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr15:31213000-31216400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr15:31213000-31216400	Genic enhancers	Fetal Muscle Trunk	muscle
49	chr15:31213000-31221800	Strong transcription	Primary B cells from cord blood	blood
50	chr15:31213000-31223200	Strong transcription	Colon Smooth Muscle	Colon

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