Variant report

Variant	rs236343
Chromosome Location	chr1:94075326-94075327
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94073816..94077242-chr1:94077483..94081240,4	MCF-7	breast:
2	chr1:94074918..94076929-chr1:94311455..94313305,2	MCF-7	breast:
3	chr1:93912853..93914592-chr1:94073230..94075742,2	MCF-7	breast:
4	chr1:94074700..94077458-chr1:94080437..94082607,3	K562	blood:
5	chr1:94031971..94034960-chr1:94074492..94076819,2	MCF-7	breast:
6	chr1:94066124..94067774-chr1:94073804..94076426,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000211575	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000137942	Chromatin interaction
ENSG00000260464	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12084853	0.89[JPT][hapmap]
rs12568405	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12739747	0.82[EUR][1000 genomes]
rs12757325	0.80[EUR][1000 genomes]
rs1618866	0.85[ASN][1000 genomes]
rs1740068	0.85[ASN][1000 genomes]
rs1772781	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs182913	0.81[ASN][1000 genomes]
rs183538	0.85[ASN][1000 genomes]
rs236266	0.89[JPT][hapmap]
rs236273	0.85[AMR][1000 genomes]
rs236274	0.81[ASN][1000 genomes]
rs236275	0.81[ASN][1000 genomes]
rs236278	0.81[ASN][1000 genomes]
rs236281	0.81[ASN][1000 genomes]
rs236284	0.88[JPT][hapmap]
rs236287	0.88[JPT][hapmap]
rs236291	0.82[AMR][1000 genomes]
rs236295	0.89[JPT][hapmap]
rs236296	0.88[JPT][hapmap]
rs236301	0.80[AMR][1000 genomes]
rs236306	0.82[CEU][hapmap];0.86[CHB][hapmap];0.91[AMR][1000 genomes]
rs236307	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes]
rs236308	0.87[CEU][hapmap];0.88[CHB][hapmap];0.88[AMR][1000 genomes]
rs236311	0.87[AMR][1000 genomes]
rs236312	0.82[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs236313	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs236344	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs236345	0.80[AMR][1000 genomes]
rs368888	0.88[AMR][1000 genomes]
rs3767979	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3767981	0.83[ASN][1000 genomes]
rs3767987	0.83[ASN][1000 genomes]
rs3767991	0.89[JPT][hapmap]
rs399649	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs423493	0.82[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes]
rs60159857	0.85[ASN][1000 genomes]
rs6541387	0.89[JPT][hapmap]
rs6657709	0.88[JPT][hapmap]
rs6660740	0.88[JPT][hapmap]
rs6683296	0.80[EUR][1000 genomes]
rs6702036	0.89[JPT][hapmap]
rs6704479	0.86[JPT][hapmap]
rs798213	0.88[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes]
rs798217	0.90[AMR][1000 genomes]
rs798218	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94057600-94106400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:94060200-94078800	Weak transcription	Colonic Mucosa	Colon
3	chr1:94061200-94078800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:94066400-94079200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:94066400-94079600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:94068200-94079200	Genic enhancers	HSMM	muscle
7	chr1:94068800-94075800	Enhancers	HSMMtube	muscle
8	chr1:94069600-94075800	Genic enhancers	Hela-S3	cervix
9	chr1:94070000-94075800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:94070200-94076000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:94070200-94076800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:94070800-94079200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:94071200-94076000	Enhancers	HUVEC	blood vessel
14	chr1:94071400-94075400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:94071400-94076000	Enhancers	Right Atrium	heart
16	chr1:94071600-94075800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:94071600-94076000	Enhancers	Gastric	stomach
18	chr1:94071600-94079400	Weak transcription	Small Intestine	intestine
19	chr1:94071800-94075400	Enhancers	NH-A	brain
20	chr1:94071800-94078200	Enhancers	Liver	Liver
21	chr1:94071800-94079200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:94071800-94079800	Weak transcription	Fetal Kidney	kidney
23	chr1:94072000-94075600	Enhancers	Right Ventricle	heart
24	chr1:94072000-94076000	Enhancers	Left Ventricle	heart
25	chr1:94072000-94076200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:94072000-94076200	Enhancers	Psoas Muscle	Psoas
27	chr1:94072200-94078400	Enhancers	Adipose Nuclei	Adipose
28	chr1:94072200-94079000	Enhancers	NHDF-Ad	bronchial
29	chr1:94072200-94079400	Weak transcription	Fetal Intestine Large	intestine
30	chr1:94072400-94075600	Enhancers	Lung	lung
31	chr1:94072400-94075600	Enhancers	Stomach Smooth Muscle	stomach
32	chr1:94072600-94075800	Enhancers	Brain Anterior Caudate	brain
33	chr1:94072600-94078800	Enhancers	Fetal Muscle Leg	muscle
34	chr1:94072800-94078400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:94073000-94075400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr1:94073000-94075400	Enhancers	Placenta	Placenta
37	chr1:94073000-94075600	Enhancers	Primary B cells from peripheral blood	blood
38	chr1:94073000-94076000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:94073000-94076000	Enhancers	Fetal Muscle Trunk	muscle
40	chr1:94073000-94077600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr1:94073200-94075400	Enhancers	NHLF	lung
42	chr1:94073200-94075600	Enhancers	Brain Cingulate Gyrus	brain
43	chr1:94073200-94075600	Enhancers	Spleen	Spleen
44	chr1:94073200-94075800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr1:94073200-94075800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:94073200-94075800	Enhancers	Brain Angular Gyrus	brain
47	chr1:94073200-94075800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr1:94073200-94075800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:94073200-94076000	Enhancers	Brain Substantia Nigra	brain
50	chr1:94073200-94077000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links