Variant report

Variant	rs652256
Chromosome Location	chr1:210465017-210465018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210463032..210465736-chr1:210546022..210548079,2	MCF-7	breast:
2	chr1:210463570..210465979-chr1:210545857..210548788,4	MCF-7	breast:
3	chr1:210462820..210467272-chr1:210545539..210548914,4	K562	blood:
4	chr1:210456418..210459693-chr1:210464885..210466635,3	MCF-7	breast:
5	chr1:210405780..210407667-chr1:210464265..210465852,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203706	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000082497	Chromatin interaction

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

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

rs_ID	r²[population]
rs10489391	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10863818	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11119455	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11119456	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12030512	0.97[EUR][1000 genomes]
rs12030856	0.97[EUR][1000 genomes]
rs12034871	0.97[EUR][1000 genomes]
rs12040684	0.97[EUR][1000 genomes]
rs12069380	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12069491	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12070628	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12074229	0.95[EUR][1000 genomes]
rs12138216	0.90[EUR][1000 genomes]
rs127043	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1338290	0.96[EUR][1000 genomes]
rs4844987	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4844988	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4844989	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4844996	0.90[EUR][1000 genomes]
rs583148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58366398	0.97[EUR][1000 genomes]
rs587203	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs588197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs590380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60154123	0.86[EUR][1000 genomes]
rs608791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs614167	0.83[AMR][1000 genomes]
rs628423	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs628869	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs628908	0.83[AMR][1000 genomes]
rs634601	0.84[AMR][1000 genomes]
rs645311	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs645890	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs646512	0.83[ASN][1000 genomes]
rs650854	0.94[EUR][1000 genomes]
rs652241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661190	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs662424	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs664072	0.83[AMR][1000 genomes]
rs664097	0.84[AMR][1000 genomes]
rs689248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs701942	0.83[AMR][1000 genomes]
rs701943	0.84[AMR][1000 genomes]
rs701944	0.83[AMR][1000 genomes]
rs815358	0.80[AMR][1000 genomes]
rs845452	0.83[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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210464200-210465200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:210464200-210465600	Enhancers	Fetal Stomach	stomach
3	chr1:210464200-210467400	Enhancers	Fetal Lung	lung
4	chr1:210464400-210465200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:210464400-210465400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:210464400-210465400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
7	chr1:210464400-210465400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:210464400-210465400	Enhancers	Fetal Muscle Leg	muscle
9	chr1:210464400-210465400	Enhancers	Placenta	Placenta
10	chr1:210464600-210465200	Bivalent Enhancer	NH-A	brain
11	chr1:210464600-210465400	Enhancers	Adipose Nuclei	Adipose
12	chr1:210464600-210465600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:210464600-210466000	Enhancers	NHDF-Ad	bronchial
14	chr1:210464600-210466200	Enhancers	Fetal Heart	heart
15	chr1:210464800-210465200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
16	chr1:210464800-210465200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:210464800-210465400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:210464800-210465400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:210464800-210465400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:210464800-210465400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:210464800-210465400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:210464800-210465400	Bivalent Enhancer	Fetal Intestine Small	intestine
23	chr1:210464800-210465600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr1:210464800-210465600	Enhancers	Pancreas	Pancrea
25	chr1:210464800-210465600	Enhancers	Rectal Smooth Muscle	rectum
26	chr1:210464800-210465800	Enhancers	NHLF	lung
27	chr1:210465000-210465200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:210465000-210465200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr1:210465000-210465200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
30	chr1:210465000-210465200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:210465000-210465200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
32	chr1:210465000-210465200	Bivalent Enhancer	Brain Germinal Matrix	brain
33	chr1:210465000-210465200	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr1:210465000-210465400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
35	chr1:210465000-210465400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
36	chr1:210465000-210465400	Enhancers	Colon Smooth Muscle	Colon
37	chr1:210465000-210465400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr1:210465000-210465600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:210465000-210465600	Weak transcription	Fetal Kidney	kidney
40	chr1:210465000-210465800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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