Variant report

Variant	rs716190
Chromosome Location	chr4:95916788-95916789
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	KAP1	chr4:95916715-95918489	HEK293	kidney:	n/a	n/a
2	STAT3	chr4:95916513-95916943	MCF10A-Er-Src	breast:	n/a	chr4:95916896-95916903

Variant related genes	Relation type
BMPR1B	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1023800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs1023801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs1023802	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.86[ASN][1000 genomes]
rs1023803	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1023804	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.86[ASN][1000 genomes]
rs11097454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1160695	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12507710	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs13113714	0.80[ASN][1000 genomes]
rs13128586	0.92[ASN][1000 genomes]
rs13129054	0.92[ASN][1000 genomes]
rs13129062	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13145631	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs1318972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs1347346	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1434546	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1434548	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1444920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444923	0.86[ASN][1000 genomes]
rs1444926	0.96[ASN][1000 genomes]
rs1469336	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1470409	0.96[ASN][1000 genomes]
rs1530459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs1545326	0.86[CHB][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs1545327	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1545329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560909	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1821451	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1822826	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1834718	0.92[ASN][1000 genomes]
rs1838501	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1867542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028761	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2044328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs2099996	0.86[ASN][1000 genomes]
rs2120831	0.87[AMR][1000 genomes]
rs2120832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2865398	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3755874	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs3755875	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs3775033	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs3775034	0.92[ASN][1000 genomes]
rs4145993	0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4331783	0.96[ASN][1000 genomes]
rs4397000	0.96[ASN][1000 genomes]
rs4426786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4450936	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4588466	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699825	0.86[ASN][1000 genomes]
rs4699826	0.86[ASN][1000 genomes]
rs4699827	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs6532523	0.92[ASN][1000 genomes]
rs6532524	0.87[AMR][1000 genomes]
rs6815448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6816059	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6820199	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6836504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6840826	0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6841746	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6843668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6844029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6846665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs6853845	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6855395	0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7665167	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs7698787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895105	0.90[ASN][1000 genomes]
rs920911	0.90[ASN][1000 genomes]
rs920912	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs965447	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs973887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs996659	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9995627	0.86[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv492312	chr4:95823124-96128327	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv997787	chr4:95859839-95934105	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv537190	chr4:95859839-95934105	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95913400-95916800	Weak transcription	Fetal Thymus	thymus
2	chr4:95915200-95916800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:95915400-95916800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:95915400-95916800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:95915400-95916800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:95915400-95916800	Enhancers	Thymus	Thymus
7	chr4:95915400-95917000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:95915400-95917000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:95915600-95917000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:95915800-95916800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:95915800-95916800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:95915800-95916800	Weak transcription	HUVEC	blood vessel
13	chr4:95916000-95917000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr4:95916000-95917000	Enhancers	Fetal Muscle Leg	muscle
15	chr4:95916000-95917600	Enhancers	HMEC	breast
16	chr4:95916200-95917000	Weak transcription	Aorta	Aorta
17	chr4:95916400-95916800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:95916400-95917000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:95916600-95916800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:95916600-95916800	Enhancers	Primary hematopoietic stem cells	blood
21	chr4:95916600-95916800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:95916600-95916800	Enhancers	Brain Hippocampus Middle	brain
23	chr4:95916600-95916800	Enhancers	Fetal Brain Female	brain
24	chr4:95916600-95916800	Enhancers	Fetal Kidney	kidney
25	chr4:95916600-95916800	Enhancers	HSMMtube	muscle
26	chr4:95916600-95916800	Enhancers	NH-A	brain
27	chr4:95916600-95916800	Enhancers	NHEK	skin
28	chr4:95916600-95917000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:95916600-95917000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr4:95916600-95917000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr4:95916600-95917200	Flanking Active TSS	A549	lung
32	chr4:95916600-95917600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr4:95916600-95917600	Enhancers	Fetal Heart	heart
34	chr4:95916600-95917600	Enhancers	Rectal Smooth Muscle	rectum
35	chr4:95916600-95917800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr4:95916600-95917800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr4:95916600-95917800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr4:95916600-95918000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:95916600-95918000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr4:95916600-95918000	Enhancers	Fetal Brain Male	brain
41	chr4:95916600-95918600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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