Variant report

Variant	rs72774014
Chromosome Location	chr10:5137873-5137874
allele	C/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	SP1	chr10:5136292-5138992	A549	lung:	n/a	chr10:5136552-5136562 chr10:5136548-5136562 chr10:5136551-5136563 chr10:5136551-5136563 chr10:5136552-5136561 chr10:5136507-5136528
2	SP1	chr10:5137770-5139058	A549	lung:	n/a	n/a
3	REST	chr10:5135146-5139228	A549	lung:	n/a	n/a
4	BCL3	chr10:5134993-5138735	A549	lung:	n/a	chr10:5137586-5137595 chr10:5136770-5136779
5	FOSL2	chr10:5135165-5139175	A549	lung:	n/a	chr10:5136821-5136831 chr10:5136823-5136834 chr10:5136821-5136830 chr10:5136821-5136831 chr10:5138903-5138915 chr10:5136822-5136831 chr10:5136820-5136832 chr10:5136822-5136829
6	TAF1	chr10:5137827-5139035	A549	lung:	n/a	n/a
7	TCF12	chr10:5134878-5139332	A549	lung:	n/a	n/a
8	TBP	chr10:5137863-5138362	Hela-S3	cervix:	n/a	n/a
9	SIX5	chr10:5136756-5139393	A549	lung:	n/a	n/a
10	REST	chr10:5137855-5138548	A549	lung:	n/a	n/a
11	CTCF	chr10:5136062-5138926	A549	lung:	n/a	chr10:5137004-5137025 chr10:5137015-5137024 chr10:5137009-5137027

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:5119351..5122041-chr10:5135538..5138283,2	MCF-7	breast:
2	chr10:5135730..5138906-chr10:5144094..5147673,3	K562	blood:

Variant related genes	Relation type
AKR1C3	TF binding region
ENSG00000239142	TF binding region
ENSG00000196139	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11813521	0.88[EUR][1000 genomes]
rs28942669	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34140485	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34320249	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55783052	0.90[EUR][1000 genomes]
rs55837921	0.93[EUR][1000 genomes]
rs56067592	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56329244	0.88[EUR][1000 genomes]
rs56357054	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57097292	0.87[EUR][1000 genomes]
rs66712885	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72772199	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72772200	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72774006	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774012	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774015	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774016	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774020	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774027	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72774028	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72776937	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72776938	0.90[EUR][1000 genomes]
rs72776942	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72776945	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72776949	0.88[EUR][1000 genomes]
rs72776951	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72776953	0.83[AFR][1000 genomes]
rs72776955	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72776957	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72776958	0.93[EUR][1000 genomes]
rs72776961	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72776963	0.93[EUR][1000 genomes]
rs72776967	0.90[EUR][1000 genomes]
rs72776968	0.90[EUR][1000 genomes]
rs72776969	0.90[EUR][1000 genomes]
rs72776971	0.90[EUR][1000 genomes]
rs72776973	0.90[EUR][1000 genomes]
rs72776976	0.88[EUR][1000 genomes]
rs72776979	0.88[EUR][1000 genomes]
rs72776984	0.87[EUR][1000 genomes]
rs72776985	0.85[EUR][1000 genomes]
rs72776986	0.85[EUR][1000 genomes]
rs72776987	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv466713	chr10:4901798-5319679	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv549881	chr10:4901798-5319679	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv1050246	chr10:4927428-5211318	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv549882	chr10:4943518-5203864	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv2763913	chr10:4961021-5321407	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv1039386	chr10:5008383-5348491	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv1036566	chr10:5037926-5261426	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv549883	chr10:5037926-5275762	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv1047484	chr10:5076258-5261482	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	nsv1036291	chr10:5076258-5456234	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	nsv1042487	chr10:5090313-5196900	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv540463	chr10:5090313-5196900	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv540464	chr10:5108345-5196815	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv540465	chr10:5108345-5261482	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv540466	chr10:5114577-5196815	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	nsv540467	chr10:5114577-5225365	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv540468	chr10:5114577-5261482	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
25	nsv540469	chr10:5120774-5225365	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv540470	chr10:5120774-5261482	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
27	nsv540471	chr10:5133561-5261482	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
28	nsv540472	chr10:5133561-5284334	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5135400-5138000	Active TSS	A549	lung
2	chr10:5135800-5138400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:5136000-5139400	Active TSS	Duodenum Mucosa	Duodenum
4	chr10:5136200-5138000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:5136200-5138400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:5136200-5138800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr10:5136400-5138000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:5136400-5138000	Active TSS	Muscle Satellite Cultured Cells	--
9	chr10:5136400-5138000	Active TSS	Thymus	Thymus
10	chr10:5136400-5138400	Active TSS	Primary hematopoietic stem cells	blood
11	chr10:5136400-5138400	Active TSS	Liver	Liver
12	chr10:5136400-5138400	Active TSS	Colon Smooth Muscle	Colon
13	chr10:5136400-5138400	Active TSS	Psoas Muscle	Psoas
14	chr10:5136400-5138400	Active TSS	Hela-S3	cervix
15	chr10:5136400-5138600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr10:5136400-5138600	Active TSS	Aorta	Aorta
17	chr10:5136400-5138600	Active TSS	Rectal Smooth Muscle	rectum
18	chr10:5136400-5138600	Active TSS	Stomach Smooth Muscle	stomach
19	chr10:5136400-5138600	Active TSS	HSMMtube	muscle
20	chr10:5136400-5138800	Active TSS	Brain Anterior Caudate	brain
21	chr10:5136400-5139000	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr10:5136400-5139000	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr10:5136400-5140000	Active TSS	Right Atrium	heart
24	chr10:5136600-5138200	Active TSS	Brain Cingulate Gyrus	brain
25	chr10:5136600-5138600	Active TSS	Brain Hippocampus Middle	brain
26	chr10:5136600-5138600	Active TSS	Left Ventricle	heart
27	chr10:5136600-5138800	Active TSS	Stomach Mucosa	stomach
28	chr10:5136600-5147400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr10:5136800-5138000	Active TSS	Adipose Nuclei	Adipose
30	chr10:5137000-5138200	Active TSS	Osteobl	bone
31	chr10:5137000-5138400	Active TSS	Fetal Kidney	kidney
32	chr10:5137000-5138400	Active TSS	NHDF-Ad	bronchial
33	chr10:5137000-5138600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr10:5137000-5138800	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr10:5137000-5141200	Weak transcription	Lung	lung
36	chr10:5137200-5138200	Weak transcription	Gastric	stomach
37	chr10:5137200-5138400	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr10:5137200-5145200	Weak transcription	Esophagus	oesophagus
39	chr10:5137200-5145800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr10:5137200-5149800	Weak transcription	Small Intestine	intestine
41	chr10:5137400-5138200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr10:5137400-5138400	Weak transcription	Colonic Mucosa	Colon
43	chr10:5137400-5138400	Weak transcription	Ovary	ovary
44	chr10:5137400-5138400	Active TSS	HepG2	liver
45	chr10:5137400-5149400	Weak transcription	HSMM	muscle
46	chr10:5137400-5149600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr10:5137400-5149600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr10:5137400-5149800	Weak transcription	Pancreas	Pancrea
49	chr10:5137400-5151600	Weak transcription	Brain Angular Gyrus	brain
50	chr10:5137400-5151800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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