Variant report

Variant	rs2237035
Chromosome Location	chr4:55526251-55526252
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:55526044..55527656-chr4:55529218..55531772,2	MCF-7	breast:
2	chr4:55524852..55526702-chr4:55529627..55531996,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1005438	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11733357	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13119906	0.81[JPT][hapmap]
rs13128858	0.85[CHB][hapmap];0.94[EUR][1000 genomes]
rs13135792	0.85[CHB][hapmap]
rs17827974	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2237031	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2282778	0.82[CHB][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2282779	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2282780	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2282781	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34284864	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35441406	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3756197	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3819387	0.85[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3819389	0.85[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3819392	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3822213	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4864915	0.84[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6554196	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6825657	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71599647	0.80[EUR][1000 genomes]
rs759083	0.85[CHB][hapmap];0.94[EUR][1000 genomes]
rs7655556	0.80[EUR][1000 genomes]
rs7655588	0.80[EUR][1000 genomes]
rs7656858	0.80[EUR][1000 genomes]
rs7684000	0.84[CHB][hapmap];0.81[JPT][hapmap];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv997430	chr4:55253397-55529288	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1010702	chr4:55440944-55528450	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55523000-55528600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:55523200-55526400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:55523400-55526400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
4	chr4:55524400-55526400	Active TSS	Lung	lung
5	chr4:55524800-55526400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:55524800-55527200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:55525000-55526400	Flanking Bivalent TSS/Enh	NHEK	skin
8	chr4:55525000-55526600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr4:55525200-55526400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
10	chr4:55525200-55526400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
11	chr4:55525200-55526600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:55525200-55526600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
13	chr4:55525200-55527400	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr4:55525400-55526400	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr4:55525400-55526600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:55525400-55526600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr4:55525400-55526600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
18	chr4:55525400-55526600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
19	chr4:55525400-55526800	Bivalent Enhancer	HMEC	breast
20	chr4:55525400-55526800	Flanking Active TSS	NHDF-Ad	bronchial
21	chr4:55525600-55526400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:55525600-55526400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
23	chr4:55525600-55526400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr4:55525600-55526400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
25	chr4:55525600-55526600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:55525600-55526600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:55525800-55526400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
28	chr4:55525800-55526400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
29	chr4:55525800-55526400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:55525800-55526400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
31	chr4:55525800-55526400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
32	chr4:55525800-55526400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
33	chr4:55525800-55526400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
34	chr4:55525800-55526400	Enhancers	Fetal Heart	heart
35	chr4:55525800-55526400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
36	chr4:55525800-55526400	Bivalent Enhancer	Stomach Mucosa	stomach
37	chr4:55525800-55526600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:55525800-55526600	Enhancers	Esophagus	oesophagus
39	chr4:55525800-55526600	Enhancers	Left Ventricle	heart
40	chr4:55525800-55526600	Enhancers	Pancreas	Pancrea
41	chr4:55525800-55526600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
42	chr4:55525800-55526800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
43	chr4:55525800-55527000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:55525800-55528600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:55525800-55528600	Enhancers	NHLF	lung
46	chr4:55525800-55529200	Weak transcription	Aorta	Aorta
47	chr4:55525800-55537200	Weak transcription	Right Atrium	heart
48	chr4:55526000-55526400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:55526000-55526400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
50	chr4:55526000-55526400	Bivalent Enhancer	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links