Variant report

Variant	rs4670649
Chromosome Location	chr2:37264413-37264414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37263179..37264825-chr2:37269498..37271219,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1007823	0.86[ASN][1000 genomes]
rs10495869	0.92[ASN][1000 genomes]
rs1123648	0.87[ASN][1000 genomes]
rs11674811	0.82[ASN][1000 genomes]
rs11685402	0.90[ASN][1000 genomes]
rs11694342	0.87[ASN][1000 genomes]
rs17020125	0.82[ASN][1000 genomes]
rs17020136	0.85[ASN][1000 genomes]
rs17020143	0.93[ASN][1000 genomes]
rs17038861	0.84[ASN][1000 genomes]
rs2372788	0.87[ASN][1000 genomes]
rs3796041	0.82[ASN][1000 genomes]
rs4670645	0.81[ASN][1000 genomes]
rs59952755	0.84[ASN][1000 genomes]
rs60572996	0.88[ASN][1000 genomes]
rs61689754	0.85[ASN][1000 genomes]
rs62133077	0.85[ASN][1000 genomes]
rs62133080	0.85[ASN][1000 genomes]
rs62133081	0.87[ASN][1000 genomes]
rs62133082	0.83[ASN][1000 genomes]
rs62133104	0.88[ASN][1000 genomes]
rs62133105	0.81[ASN][1000 genomes]
rs62133108	0.93[ASN][1000 genomes]
rs62133110	0.90[ASN][1000 genomes]
rs6723869	0.82[ASN][1000 genomes]
rs6728062	0.83[ASN][1000 genomes]
rs6753260	0.86[ASN][1000 genomes]
rs9636389	0.83[ASN][1000 genomes]
rs9636428	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv873879	chr2:37200033-37299145	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv581472	chr2:37235324-37291320	Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1820206	chr2:37236821-37277811	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37209000-37290200	Weak transcription	Small Intestine	intestine
2	chr2:37221000-37307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:37223400-37282600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:37223400-37300400	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr2:37224000-37270600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:37228600-37267000	Weak transcription	Stomach Mucosa	stomach
7	chr2:37240400-37304800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:37240600-37306000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:37240800-37281800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:37240800-37306400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:37240800-37307000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:37241000-37272600	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:37241200-37306000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr2:37241400-37299600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:37242000-37287000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:37242200-37265800	Strong transcription	Liver	Liver
17	chr2:37242200-37305800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:37246200-37283000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:37246800-37279800	Weak transcription	Pancreas	Pancrea
20	chr2:37247000-37279200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:37248800-37266800	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:37248800-37279200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:37248800-37290200	Weak transcription	Psoas Muscle	Psoas
24	chr2:37249000-37266600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:37249000-37277400	Weak transcription	NHLF	lung
26	chr2:37249000-37291800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:37249000-37291800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:37250800-37268600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:37252000-37279400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:37253400-37279400	Weak transcription	NHEK	skin
31	chr2:37253600-37278800	Weak transcription	Right Ventricle	heart
32	chr2:37253800-37264800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:37253800-37265000	Weak transcription	Thymus	Thymus
34	chr2:37253800-37268600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:37253800-37289600	Weak transcription	Spleen	Spleen
36	chr2:37253800-37291000	Weak transcription	Aorta	Aorta
37	chr2:37253800-37310200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:37254000-37265000	Weak transcription	Lung	lung
39	chr2:37254000-37267400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:37254000-37279400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:37254200-37277000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:37254800-37279200	Weak transcription	A549	lung
43	chr2:37255000-37267000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:37255200-37266800	Weak transcription	HMEC	breast
45	chr2:37255200-37267200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:37255200-37267400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:37255200-37272600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:37255200-37278800	Weak transcription	Colonic Mucosa	Colon
49	chr2:37255200-37279400	Weak transcription	Fetal Kidney	kidney
50	chr2:37255200-37279400	Weak transcription	K562	blood

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