Variant report

Variant	rs72710410
Chromosome Location	chr15:31220158-31220159
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:31218556-31220404	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr15:31219516-31220437	HL-60	blood:	n/a	n/a
3	POLR2A	chr15:31219588-31220326	GM12892	blood:	n/a	n/a
4	POLR2A	chr15:31219848-31220186	GM12892	blood:	n/a	n/a
5	POLR2A	chr15:31219670-31220214	A549	lung:	n/a	n/a
6	POLR2A	chr15:31219671-31220184	GM12891	blood:	n/a	n/a
7	POLR2A	chr15:31219612-31220158	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:31218462-31221696	K562	blood:	n/a	n/a
9	POLR2A	chr15:31218708-31220775	HepG2	liver:	n/a	n/a
10	POLR2A	chr15:31219936-31220172	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:31194962..31197804-chr15:31219595..31222456,2	K562	blood:
2	chr15:31218794..31220951-chr15:31282389..31284227,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGAP11B-8	chr15:31218717-31220610	ENSG00000270015.1

No data

Variant related genes	Relation type
FAN1	TF binding region
ENSG00000198690	Chromatin interaction
ENSG00000166912	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55635408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72725285	1.00[AMR][1000 genomes]
rs72725298	1.00[AMR][1000 genomes]
rs72727511	1.00[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	chr15:31198200-31224000	Strong transcription	Dnd41	blood
2	chr15:31200200-31224000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr15:31200400-31221200	Strong transcription	Placenta	Placenta
4	chr15:31200400-31223200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr15:31200400-31242200	Strong transcription	Primary T cells from cord blood	blood
6	chr15:31200600-31254800	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr15:31201200-31224000	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr15:31201200-31241400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:31204200-31224000	Strong transcription	Stomach Smooth Muscle	stomach
10	chr15:31204400-31223200	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr15:31204400-31223200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr15:31204400-31223400	Strong transcription	Fetal Stomach	stomach
13	chr15:31204400-31223600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr15:31204400-31224000	Strong transcription	Duodenum Mucosa	Duodenum
15	chr15:31204600-31223000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr15:31204600-31224000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr15:31205000-31224000	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr15:31206000-31223200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr15:31206800-31223400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr15:31208400-31223800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr15:31208400-31224000	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr15:31209000-31223200	Strong transcription	Esophagus	oesophagus
23	chr15:31209000-31223200	Strong transcription	Fetal Intestine Small	intestine
24	chr15:31209000-31224000	Strong transcription	Ovary	ovary
25	chr15:31210400-31222800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr15:31210600-31223400	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr15:31211800-31223000	Strong transcription	Rectal Smooth Muscle	rectum
28	chr15:31212000-31220200	Strong transcription	Primary hematopoietic stem cells	blood
29	chr15:31212000-31223000	Strong transcription	Fetal Thymus	thymus
30	chr15:31212200-31224000	Strong transcription	Fetal Intestine Large	intestine
31	chr15:31212200-31224000	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr15:31212400-31220200	Strong transcription	NHEK	skin
33	chr15:31212400-31223200	Strong transcription	Pancreas	Pancrea
34	chr15:31212600-31223400	Strong transcription	Thymus	Thymus
35	chr15:31212800-31221600	Strong transcription	Spleen	Spleen
36	chr15:31212800-31223000	Strong transcription	Colonic Mucosa	Colon
37	chr15:31212800-31223200	Strong transcription	Aorta	Aorta
38	chr15:31212800-31224000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr15:31213000-31221800	Strong transcription	Primary B cells from cord blood	blood
40	chr15:31213000-31223200	Strong transcription	Colon Smooth Muscle	Colon
41	chr15:31213600-31224000	Strong transcription	Fetal Lung	lung
42	chr15:31214000-31223000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr15:31214000-31224200	Strong transcription	A549	lung
44	chr15:31214200-31224000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr15:31214400-31224000	Strong transcription	Liver	Liver
46	chr15:31214800-31221200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr15:31214800-31221200	Strong transcription	Gastric	stomach
48	chr15:31214800-31230600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr15:31215000-31223400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:31215200-31220800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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