Variant report

Variant	rs6662293
Chromosome Location	chr1:175988713-175988714
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:175984829..175987987-chr1:175988414..175993027,5	MCF-7	breast:
2	chr1:175987403..175989006-chr1:175989329..175990890,2	MCF-7	breast:
3	chr1:175976933..175978782-chr1:175988459..175991080,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228686	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10753115	0.84[AFR][1000 genomes]
rs10753116	1.00[EUR][1000 genomes]
rs10798426	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10913130	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2049256	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2177205	1.00[EUR][1000 genomes]
rs2481638	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2481645	1.00[EUR][1000 genomes]
rs2481654	1.00[EUR][1000 genomes]
rs2502846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4361950	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4622022	1.00[EUR][1000 genomes]
rs4631649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650931	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6657175	1.00[EUR][1000 genomes]
rs6693536	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs812066	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175946000-175996000	Weak transcription	HMEC	breast
2	chr1:175953800-175999600	Weak transcription	Colonic Mucosa	Colon
3	chr1:175957800-176022000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:175973600-176003400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:175974000-176003000	Weak transcription	NH-A	brain
6	chr1:175974600-175988800	Weak transcription	Pancreas	Pancrea
7	chr1:175974600-176014200	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:175975400-176003400	Weak transcription	NHLF	lung
9	chr1:175975800-175988800	Weak transcription	Ovary	ovary
10	chr1:175975800-176016200	Weak transcription	HSMMtube	muscle
11	chr1:175976400-175996000	Weak transcription	HUVEC	blood vessel
12	chr1:175976400-176014400	Weak transcription	Brain Angular Gyrus	brain
13	chr1:175976600-176009400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:175976800-176046000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:175978200-176001000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:175978200-176003600	Weak transcription	Small Intestine	intestine
17	chr1:175978200-176007400	Weak transcription	Brain Germinal Matrix	brain
18	chr1:175978200-176050600	Weak transcription	Aorta	Aorta
19	chr1:175978400-175989400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:175978400-175996000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:175978400-175996600	Weak transcription	Left Ventricle	heart
22	chr1:175978400-176001600	Weak transcription	Fetal Lung	lung
23	chr1:175978400-176003000	Weak transcription	HSMM	muscle
24	chr1:175978400-176006800	Weak transcription	Fetal Brain Female	brain
25	chr1:175978400-176007000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:175978400-176007000	Weak transcription	Fetal Kidney	kidney
27	chr1:175978400-176014000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:175978400-176014800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:175978400-176017800	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:175978600-176007000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:175978800-175988800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:175978800-176003000	Weak transcription	A549	lung
34	chr1:175979200-176011800	Weak transcription	Brain Anterior Caudate	brain
35	chr1:175979400-175994800	Weak transcription	Placenta	Placenta
36	chr1:175979400-176009200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:175979400-176012200	Weak transcription	HepG2	liver
38	chr1:175979600-175991600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:175979600-176001000	Weak transcription	NHEK	skin
40	chr1:175979600-176010600	Weak transcription	Right Ventricle	heart
41	chr1:175979600-176012000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:175979600-176045400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:175979800-176014400	Weak transcription	Brain Substantia Nigra	brain
44	chr1:175980000-176001000	Weak transcription	NHDF-Ad	bronchial
45	chr1:175980200-176028000	Weak transcription	K562	blood
46	chr1:175980400-175995600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:175981400-175988800	Weak transcription	Spleen	Spleen
48	chr1:175981400-176009200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:175981600-175999000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:175981600-176001600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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