Variant report

Variant	rs6987436
Chromosome Location	chr8:130695036-130695037
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	TCF7L2	chr8:130694996-130695196	PANC-1	pancreas:	n/a	chr8:130695165-130695181 chr8:130695165-130695181 chr8:130695166-130695180 chr8:130695168-130695177
2	RAD21	chr8:130693873-130695254	HCT-116	colon:	n/a	chr8:130694447-130694466
3	POLR2A	chr8:130693625-130695550	HL-60	blood:	n/a	n/a
4	CTCF	chr8:130693728-130695261	A549	lung:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
5	SMC3	chr8:130693858-130695121	SK-N-SH	brain:	n/a	chr8:130694451-130694465

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:128747230..128750854-chr8:130693874..130696139,3	K562	blood:
2	chr8:130692959..130695780-chr8:130701945..130704433,2	K562	blood:

Variant related genes	Relation type
CCDC26	TF binding region
ENSG00000136997	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10097823	0.86[CHB][hapmap]
rs10098045	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs12544799	0.84[JPT][hapmap]
rs13249717	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs13250085	0.86[CHB][hapmap]
rs13252239	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs13256078	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs16904128	0.86[CHB][hapmap]
rs16904136	0.84[JPT][hapmap]
rs16904138	0.84[JPT][hapmap]
rs16904139	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs4327829	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs4448234	0.95[JPT][hapmap]
rs4518628	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs4562281	0.80[JPT][hapmap]
rs4565426	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs4566996	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs4626563	0.84[JPT][hapmap]
rs4733553	0.84[JPT][hapmap]
rs4733556	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs4733720	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs6470753	0.95[JPT][hapmap]
rs6985166	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs6997969	0.85[JPT][hapmap]
rs6998156	0.85[JPT][hapmap]
rs7006026	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs7828331	0.86[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891446	chr8:130656205-130710638	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130689400-130697400	Weak transcription	HMEC	breast
2	chr8:130691800-130695800	Weak transcription	Spleen	Spleen
3	chr8:130691800-130697200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:130691800-130697800	Weak transcription	Lung	lung
5	chr8:130692400-130698000	Weak transcription	Psoas Muscle	Psoas
6	chr8:130692600-130697000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:130692600-130698000	Weak transcription	Right Ventricle	heart
8	chr8:130693600-130695200	Enhancers	Fetal Thymus	thymus
9	chr8:130693800-130695400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:130693800-130695800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr8:130693800-130696000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:130693800-130696600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr8:130694200-130696000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:130694200-130697400	Weak transcription	HSMM	muscle
15	chr8:130694200-130697400	Weak transcription	HSMMtube	muscle
16	chr8:130694400-130695200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:130694400-130695400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:130694400-130695600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr8:130694400-130696800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:130694400-130697000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:130694400-130697000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:130694400-130697000	Weak transcription	Fetal Lung	lung
23	chr8:130694400-130697000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr8:130694400-130697000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr8:130694400-130697000	Weak transcription	NHLF	lung
26	chr8:130694400-130697200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr8:130694400-130697200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr8:130694400-130697200	Weak transcription	Osteobl	bone
29	chr8:130694400-130697400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:130694400-130697400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:130694400-130697400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:130694400-130697400	Weak transcription	Ovary	ovary
33	chr8:130694400-130697400	Enhancers	A549	lung
34	chr8:130694400-130697600	Weak transcription	Colon Smooth Muscle	Colon
35	chr8:130694400-130697800	Weak transcription	Placenta	Placenta
36	chr8:130694400-130698000	Enhancers	Dnd41	blood
37	chr8:130694600-130697400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:130694600-130697400	Weak transcription	Fetal Stomach	stomach
39	chr8:130694800-130696000	Genic enhancers	K562	blood
40	chr8:130694800-130696800	Weak transcription	NH-A	brain
41	chr8:130694800-130696800	Weak transcription	NHDF-Ad	bronchial
42	chr8:130694800-130697000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:130694800-130697000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:130694800-130697000	Weak transcription	Fetal Heart	heart
45	chr8:130694800-130697400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr8:130694800-130697800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:130694800-130703200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:130695000-130696400	Weak transcription	HUVEC	blood vessel
49	chr8:130695000-130696800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:130695000-130697000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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