Variant report

Variant	rs7577407
Chromosome Location	chr2:183991590-183991591
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:183775532..183777640-chr2:183990491..183993127,2	K562	blood:
2	chr2:183977949..183985615-chr2:183986503..183991971,13	K562	blood:
3	chr2:183895298..183904606-chr2:183986062..183992067,16	K562	blood:
4	chr2:183897885..183903273-chr2:183986817..183992325,13	K562	blood:
5	chr2:183989126..183990874-chr2:183990952..183992681,2	MCF-7	breast:
6	chr2:183990685..183993122-chr2:184003291..184005876,2	K562	blood:
7	chr2:183836718..183838459-chr2:183989290..183991920,2	K562	blood:
8	chr2:183954410..183956747-chr2:183990297..183991914,2	K562	blood:
9	chr2:183942911..183945636-chr2:183991182..183993608,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162999	Chromatin interaction
ENSG00000163002	Chromatin interaction
ENSG00000061676	Chromatin interaction

Extended variants
information (count: 154 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs10497620	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs1473614	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1473615	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1473616	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17706149	0.91[AFR][1000 genomes]
rs1997486	0.91[AFR][1000 genomes]
rs2254879	0.82[YRI][hapmap]
rs2675053	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2675054	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2705715	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2705718	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2705719	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2705720	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2705721	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs35142583	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4666620	0.86[AFR][1000 genomes]
rs4666890	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs55657876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55678810	0.86[AMR][1000 genomes]
rs55696219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55707150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55764044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55957340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56152140	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56182353	0.88[EUR][1000 genomes]
rs56402172	0.83[AFR][1000 genomes]
rs6707761	0.87[AMR][1000 genomes]
rs6712479	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6722457	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6743323	0.88[EUR][1000 genomes]
rs6750392	0.88[EUR][1000 genomes]
rs72886518	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72886527	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886538	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886541	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886545	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886547	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886553	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886557	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886568	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886577	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886596	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886600	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888431	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888449	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888452	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888461	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888464	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888472	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888474	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888478	0.86[EUR][1000 genomes]
rs72888481	0.86[EUR][1000 genomes]
rs72888488	0.86[EUR][1000 genomes]
rs72888489	0.86[EUR][1000 genomes]
rs72890307	0.88[EUR][1000 genomes]
rs72890345	0.97[EUR][1000 genomes]
rs72890349	0.90[EUR][1000 genomes]
rs72890352	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72890353	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72890370	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72890384	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72890392	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72890398	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72892604	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72892631	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72892638	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892678	0.83[AFR][1000 genomes]
rs72892682	0.86[AFR][1000 genomes]
rs72892683	0.86[AFR][1000 genomes]
rs72892686	0.83[AFR][1000 genomes]
rs72892687	0.83[AFR][1000 genomes]
rs72892688	0.83[AFR][1000 genomes]
rs72892689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892690	0.83[AFR][1000 genomes]
rs72892694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894514	0.91[AFR][1000 genomes]
rs72894523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894558	0.91[AFR][1000 genomes]
rs72894570	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896534	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896556	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896558	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896559	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896560	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896581	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896586	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72896596	0.91[AFR][1000 genomes]
rs72896598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896599	0.91[AFR][1000 genomes]
rs72898507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898522	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898538	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72898539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898545	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72898548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898555	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898558	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898562	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72898566	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898569	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898573	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898574	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898578	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72898581	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898584	0.86[EUR][1000 genomes]
rs72898600	0.86[AMR][1000 genomes]
rs72900543	0.86[AMR][1000 genomes]
rs72900772	0.87[AMR][1000 genomes]
rs72900775	0.87[AMR][1000 genomes]
rs72900780	0.87[AMR][1000 genomes]
rs7562034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7565260	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7567370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7591252	0.83[AFR][1000 genomes]
rs7597417	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183988400-183991600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr2:183988800-183991600	Active TSS	K562	blood
3	chr2:183990000-183996200	Weak transcription	Lung	lung
4	chr2:183990000-184003600	Weak transcription	Left Ventricle	heart
5	chr2:183990000-184008600	Weak transcription	Esophagus	oesophagus
6	chr2:183990000-184008800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:183990000-184024400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:183990000-184050000	Weak transcription	Aorta	Aorta
9	chr2:183990200-183991600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:183990200-183993600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:183990200-183995000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:183990200-184008200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:183990200-184014200	Weak transcription	HSMMtube	muscle
14	chr2:183990200-184018800	Weak transcription	Placenta	Placenta
15	chr2:183990200-184036400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:183990400-183991600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:183990400-183991600	Flanking Active TSS	HepG2	liver
18	chr2:183990400-183991800	Flanking Active TSS	A549	lung
19	chr2:183990400-183991800	Flanking Active TSS	Dnd41	blood
20	chr2:183990600-183992600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr2:183990600-183994400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:183990600-183995400	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:183990600-183995600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:183990600-183995800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:183990600-184010200	Weak transcription	Brain Substantia Nigra	brain
26	chr2:183990600-184028600	Weak transcription	Colonic Mucosa	Colon
27	chr2:183990800-183991600	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr2:183990800-183991600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:183990800-183991600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr2:183990800-183991600	Enhancers	Fetal Lung	lung
31	chr2:183990800-183993000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr2:183990800-183994400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:183990800-183994400	Weak transcription	Primary B cells from cord blood	blood
34	chr2:183990800-183995600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:183990800-184000000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr2:183990800-184025800	Weak transcription	Fetal Kidney	kidney
37	chr2:183990800-184031000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:183991000-183991600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:183991000-183991600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:183991000-183991800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:183991000-183991800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:183991000-183991800	Enhancers	Brain Germinal Matrix	brain
43	chr2:183991000-183991800	Enhancers	Fetal Intestine Small	intestine
44	chr2:183991000-183992000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:183991000-183992000	Weak transcription	Ovary	ovary
46	chr2:183991000-183992000	Enhancers	NHEK	skin
47	chr2:183991000-183992600	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr2:183991000-183993000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:183991000-183993000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:183991000-183993000	Weak transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links