Variant report

Variant	rs737908
Chromosome Location	chr22:30388302-30388303
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30231401..30237558-chr22:30387473..30391733,6	MCF-7	breast:
2	chr22:30162215..30164078-chr22:30387745..30390340,2	MCF-7	breast:
3	chr22:30376984..30378787-chr22:30386876..30389530,2	MCF-7	breast:
4	chr22:30388182..30392809-chr22:30393222..30398050,6	K562	blood:
5	chr22:30388182..30391432-chr22:30393585..30396816,3	K562	blood:
6	chr22:30387371..30390104-chr22:30390840..30392967,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184076	Chromatin interaction
ENSG00000100325	Chromatin interaction
ENSG00000100319	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12710565	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1807508	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1807513	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2007446	0.90[EUR][1000 genomes]
rs2007458	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2189802	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2285667	0.89[EUR][1000 genomes]
rs3747149	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747150	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788420	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41155	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41156	0.83[EUR][1000 genomes]
rs41157	0.83[EUR][1000 genomes]
rs41158	0.86[ASN][1000 genomes]
rs41159	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41161	0.87[EUR][1000 genomes]
rs41165	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41173	0.81[EUR][1000 genomes]
rs4630869	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4820824	1.00[ASN][1000 genomes]
rs55805200	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5752973	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5752975	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5752992	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763559	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5763565	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763581	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763589	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5763591	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5763614	0.82[EUR][1000 genomes]
rs5763638	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763645	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763646	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5763649	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763650	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5763651	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5763670	0.88[EUR][1000 genomes]
rs5763671	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763688	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59663694	0.88[EUR][1000 genomes]
rs5997546	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6006300	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7289604	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73162764	0.87[EUR][1000 genomes]
rs737939	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs960987	0.83[EUR][1000 genomes]
rs997913	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv3591	chr22:30344208-30388897	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30350600-30402600	Weak transcription	Aorta	Aorta
2	chr22:30352800-30388600	Weak transcription	HepG2	liver
3	chr22:30354600-30390200	Weak transcription	Colonic Mucosa	Colon
4	chr22:30354800-30390400	Weak transcription	Small Intestine	intestine
5	chr22:30363400-30427800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr22:30366600-30390800	Weak transcription	Gastric	stomach
7	chr22:30367000-30426600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr22:30367400-30397800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr22:30369400-30388400	Weak transcription	NH-A	brain
10	chr22:30370000-30391000	Weak transcription	Fetal Heart	heart
11	chr22:30370200-30388400	Weak transcription	NHLF	lung
12	chr22:30370600-30390800	Weak transcription	Right Ventricle	heart
13	chr22:30370800-30390000	Weak transcription	Stomach Mucosa	stomach
14	chr22:30373400-30388600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr22:30373600-30388600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr22:30373800-30391400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr22:30374200-30389600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr22:30375200-30389800	Weak transcription	K562	blood
19	chr22:30375200-30403200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr22:30375400-30390800	Weak transcription	Pancreas	Pancrea
21	chr22:30375800-30388400	Weak transcription	A549	lung
22	chr22:30375800-30389800	Weak transcription	HUVEC	blood vessel
23	chr22:30376200-30389800	Weak transcription	Hela-S3	cervix
24	chr22:30376200-30394800	Weak transcription	GM12878-XiMat	blood
25	chr22:30377000-30389400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr22:30377200-30388400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr22:30377200-30388400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr22:30377400-30388400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr22:30377400-30388400	Weak transcription	NHEK	skin
30	chr22:30377600-30388400	Weak transcription	HSMMtube	muscle
31	chr22:30377600-30402800	Weak transcription	Fetal Brain Male	brain
32	chr22:30378200-30398800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr22:30378400-30391400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr22:30379200-30391200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr22:30379800-30390800	Weak transcription	Esophagus	oesophagus
36	chr22:30380800-30391800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr22:30381000-30397600	Weak transcription	Fetal Kidney	kidney
38	chr22:30382000-30389600	Strong transcription	Liver	Liver
39	chr22:30382000-30390600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr22:30382200-30389200	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr22:30382400-30388800	Weak transcription	HSMM	muscle
42	chr22:30382600-30388400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr22:30382600-30392000	Strong transcription	Primary T cells from cord blood	blood
44	chr22:30383000-30388600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr22:30383200-30389200	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr22:30383200-30390400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:30383600-30388400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr22:30383800-30391600	Strong transcription	Primary B cells from cord blood	blood
49	chr22:30384000-30388800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:30384200-30391000	Weak transcription	Brain Substantia Nigra	brain

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