Variant report

Variant	rs7589630
Chromosome Location	chr2:183864390-183864391
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183864377..183866340-chr2:183880546..183882680,2	K562	blood:
2	chr2:183864297..183866939-chr2:183942510..183945015,2	K562	blood:

Variant related genes	Relation type
ENSG00000162999	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10187684	0.90[ASN][1000 genomes]
rs10204853	0.90[ASN][1000 genomes]
rs1022337	1.00[JPT][hapmap]
rs10497617	0.90[ASN][1000 genomes]
rs10931052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10931053	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10931055	0.90[ASN][1000 genomes]
rs11889337	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11899644	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12470377	0.81[ASN][1000 genomes]
rs12611998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12612383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12617567	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12618652	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12991342	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12992059	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12992669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12994001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13000008	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13009031	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13010139	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409111	0.90[ASN][1000 genomes]
rs1400130	0.81[ASN][1000 genomes]
rs16823896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16823906	0.81[ASN][1000 genomes]
rs16823931	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2138486	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.97[EUR][1000 genomes]
rs2368351	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2675048	0.90[ASN][1000 genomes]
rs2675049	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2675051	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2675076	0.90[ASN][1000 genomes]
rs2705741	1.00[JPT][hapmap]
rs2705748	0.90[ASN][1000 genomes]
rs34179918	0.83[AMR][1000 genomes]
rs34192739	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34215267	0.83[AMR][1000 genomes]
rs34254952	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34644467	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34873881	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34930236	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35175570	0.84[EUR][1000 genomes]
rs35310711	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35318802	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35368327	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35488919	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35566709	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35628169	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35720425	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35971883	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3791246	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4414644	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4666604	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4666873	0.90[ASN][1000 genomes]
rs4666876	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666881	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666882	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55739115	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60326110	0.90[ASN][1000 genomes]
rs60543070	0.90[ASN][1000 genomes]
rs62190104	0.90[ASN][1000 genomes]
rs6434000	0.90[ASN][1000 genomes]
rs6434001	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs66829551	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6714190	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6718462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6726085	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6730114	0.81[ASN][1000 genomes]
rs6730183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6732015	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6735651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6745341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6761953	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67966058	0.81[ASN][1000 genomes]
rs71427864	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73042165	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73980539	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7566668	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7597884	0.90[ASN][1000 genomes]
rs7599002	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7599011	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605639	0.90[ASN][1000 genomes]
rs7607857	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288088	1.00[JPT][hapmap]
rs9333280	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9789450	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183773400-183866000	Weak transcription	Colonic Mucosa	Colon
2	chr2:183773400-183877800	Weak transcription	Stomach Mucosa	stomach
3	chr2:183780400-183874800	Weak transcription	Esophagus	oesophagus
4	chr2:183805600-183874400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:183812200-183874800	Weak transcription	Gastric	stomach
6	chr2:183814600-183874800	Weak transcription	Aorta	Aorta
7	chr2:183814600-183893600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:183827200-183874400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:183833600-183864400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:183833600-183874800	Weak transcription	Brain Substantia Nigra	brain
11	chr2:183833600-183874800	Weak transcription	Pancreas	Pancrea
12	chr2:183833600-183878400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:183833600-183879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:183836600-183867800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:183837000-183866600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:183837800-183866400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:183838400-183867000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:183838600-183865600	Weak transcription	Small Intestine	intestine
19	chr2:183839600-183864400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:183839800-183868400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:183841600-183868200	Strong transcription	HSMM	muscle
22	chr2:183842400-183874800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:183842600-183868800	Weak transcription	Right Ventricle	heart
24	chr2:183845200-183867600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:183846000-183869800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:183846000-183902000	Weak transcription	Lung	lung
27	chr2:183847200-183867000	Strong transcription	HepG2	liver
28	chr2:183848000-183864600	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:183848000-183866600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:183852600-183874400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:183853000-183874800	Weak transcription	Brain Angular Gyrus	brain
32	chr2:183853200-183865000	Weak transcription	Fetal Heart	heart
33	chr2:183853200-183874800	Weak transcription	Right Atrium	heart
34	chr2:183854000-183898800	Weak transcription	Fetal Brain Male	brain
35	chr2:183854800-183865400	Weak transcription	Fetal Intestine Small	intestine
36	chr2:183855400-183866600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:183855400-183866800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr2:183855400-183868200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:183855600-183874800	Weak transcription	Hela-S3	cervix
40	chr2:183856600-183867600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:183856800-183866200	Strong transcription	Fetal Intestine Large	intestine
42	chr2:183858400-183865000	Weak transcription	Brain Germinal Matrix	brain
43	chr2:183858400-183865600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:183858400-183874800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:183858400-183874800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:183858600-183870400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:183859200-183866400	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:183859400-183872400	Weak transcription	Spleen	Spleen
49	chr2:183859600-183864400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr2:183859600-183864400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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