Variant report

Variant	rs2952139
Chromosome Location	chr17:37813462-37813463
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	POLR2A	chr17:37813431-37813463	K562	blood:	n/a	n/a

Variant related genes	Relation type
STARD3	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1050293	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs15968	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2934958	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2934959	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2934960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2934961	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2934962	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2934963	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2934965	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2934966	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2941510	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2941511	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2941512	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2941513	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2941514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2941515	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2941516	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2941523	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2952149	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2952150	0.86[EUR][1000 genomes]
rs57837184	0.90[AFR][1000 genomes]
rs59522915	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73294088	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73294092	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73294095	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73294098	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73294102	0.86[AFR][1000 genomes]
rs73296106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73296109	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73308310	0.86[AFR][1000 genomes]
rs73308326	0.90[AFR][1000 genomes]
rs73308329	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
3	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
8	nsv457738	chr17:37770005-37831035	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv574991	chr17:37770005-37831035	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers 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	18 gene(s)	inside rSNPs	diseases
10	nsv516757	chr17:37781849-37834541	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
11	esv1792029	chr17:37797757-37886460	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv908213	chr17:37807698-37839493	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37795000-37814000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr17:37795000-37823800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr17:37795200-37814000	Weak transcription	Aorta	Aorta
4	chr17:37795200-37814600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr17:37795400-37818000	Weak transcription	Fetal Kidney	kidney
6	chr17:37798200-37813800	Weak transcription	GM12878-XiMat	blood
7	chr17:37799800-37819600	Weak transcription	Osteobl	bone
8	chr17:37800000-37814000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr17:37800000-37815200	Weak transcription	HUVEC	blood vessel
10	chr17:37800000-37818600	Weak transcription	Hela-S3	cervix
11	chr17:37800000-37820000	Weak transcription	NH-A	brain
12	chr17:37800200-37816800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:37800400-37814000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr17:37800600-37816200	Weak transcription	NHEK	skin
15	chr17:37801000-37814600	Weak transcription	Primary B cells from cord blood	blood
16	chr17:37801800-37817000	Weak transcription	A549	lung
17	chr17:37803400-37814200	Strong transcription	Thymus	Thymus
18	chr17:37803800-37821800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr17:37808400-37819200	Weak transcription	Small Intestine	intestine
20	chr17:37809200-37816200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr17:37809400-37813800	Weak transcription	Fetal Lung	lung
22	chr17:37809600-37814200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr17:37809800-37816400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr17:37809800-37819400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr17:37810000-37813800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr17:37810000-37814000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr17:37810000-37815000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr17:37810000-37815600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr17:37810000-37817200	Weak transcription	HSMM	muscle
30	chr17:37810000-37819400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr17:37810000-37819600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr17:37810000-37820000	Weak transcription	HSMMtube	muscle
33	chr17:37810000-37820400	Strong transcription	Brain Germinal Matrix	brain
34	chr17:37810200-37814000	Strong transcription	Fetal Muscle Trunk	muscle
35	chr17:37810200-37815400	Strong transcription	Fetal Stomach	stomach
36	chr17:37810200-37816200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr17:37810200-37816400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr17:37810200-37816400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr17:37810200-37816600	Strong transcription	Spleen	Spleen
40	chr17:37810200-37819800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr17:37810400-37814000	Weak transcription	Colon Smooth Muscle	Colon
42	chr17:37810400-37815000	Weak transcription	Pancreas	Pancrea
43	chr17:37810400-37817600	Weak transcription	Stomach Mucosa	stomach
44	chr17:37810400-37817800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr17:37810600-37814200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr17:37810600-37814200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr17:37810600-37814600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr17:37810600-37814600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr17:37810600-37814600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr17:37810600-37814600	Weak transcription	Liver	Liver

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