Variant report

Variant	rs716191
Chromosome Location	chr4:95916919-95916920
allele	A/C
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	chr4:95916876-95916963	MCF10A-Er-Src	breast:	n/a	chr4:95916896-95916903
3	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: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10018945	0.97[ASN][1000 genomes]
rs10023544	0.85[ASN][1000 genomes]
rs12500473	0.96[ASN][1000 genomes]
rs12512478	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12644723	0.96[ASN][1000 genomes]
rs12647875	0.94[ASN][1000 genomes]
rs13102404	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13104170	0.97[ASN][1000 genomes]
rs1347345	0.97[ASN][1000 genomes]
rs1348605	0.96[ASN][1000 genomes]
rs1444922	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1545328	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28663472	0.90[ASN][1000 genomes]
rs28676957	0.80[ASN][1000 genomes]
rs3775041	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6532522	0.86[AFR][1000 genomes]
rs6532526	0.96[ASN][1000 genomes]
rs6532527	0.96[ASN][1000 genomes]
rs6815044	0.95[ASN][1000 genomes]
rs6821072	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6831094	0.96[ASN][1000 genomes]
rs6832300	0.96[ASN][1000 genomes]
rs723169	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs723170	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7662504	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7679627	0.90[ASN][1000 genomes]
rs7681920	0.97[ASN][1000 genomes]
rs7698733	0.84[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs716191	BMPR1B	cis	Heart Left Ventricle	GTEx

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95915400-95917000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:95915400-95917000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr4:95915600-95917000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:95916000-95917000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr4:95916000-95917000	Enhancers	Fetal Muscle Leg	muscle
6	chr4:95916000-95917600	Enhancers	HMEC	breast
7	chr4:95916200-95917000	Weak transcription	Aorta	Aorta
8	chr4:95916400-95917000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:95916600-95917000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:95916600-95917000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr4:95916600-95917000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr4:95916600-95917200	Flanking Active TSS	A549	lung
13	chr4:95916600-95917600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:95916600-95917600	Enhancers	Fetal Heart	heart
15	chr4:95916600-95917600	Enhancers	Rectal Smooth Muscle	rectum
16	chr4:95916600-95917800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:95916600-95917800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:95916600-95917800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr4:95916600-95918000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:95916600-95918000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:95916600-95918000	Enhancers	Fetal Brain Male	brain
22	chr4:95916600-95918600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:95916800-95917000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr4:95916800-95917000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:95916800-95917000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:95916800-95917000	Enhancers	Brain Angular Gyrus	brain
27	chr4:95916800-95917000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr4:95916800-95917000	Enhancers	Colon Smooth Muscle	Colon
29	chr4:95916800-95917000	Enhancers	Pancreas	Pancrea
30	chr4:95916800-95917000	Enhancers	Right Ventricle	heart
31	chr4:95916800-95917000	Active TSS	Stomach Smooth Muscle	stomach
32	chr4:95916800-95917000	Flanking Active TSS	Thymus	Thymus
33	chr4:95916800-95917000	Enhancers	HSMM	muscle
34	chr4:95916800-95917200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:95916800-95917200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr4:95916800-95917200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:95916800-95917200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr4:95916800-95917200	Flanking Active TSS	Fetal Brain Female	brain
39	chr4:95916800-95917200	Enhancers	Fetal Thymus	thymus
40	chr4:95916800-95917200	Active TSS	Right Atrium	heart
41	chr4:95916800-95917200	Flanking Active TSS	HSMMtube	muscle
42	chr4:95916800-95917400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:95916800-95917400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr4:95916800-95917400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr4:95916800-95917400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:95916800-95917400	Active TSS	Primary T cells from cord blood	blood
47	chr4:95916800-95917400	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr4:95916800-95917400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr4:95916800-95917400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr4:95916800-95917400	Active TSS	Duodenum Smooth Muscle	Duodenum

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