Variant report

Variant	rs234637
Chromosome Location	chr1:184905827-184905828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184905184..184907440-chr1:184921171..184922826,2	K562	blood:
2	chr1:184897304..184900091-chr1:184904364..184906858,2	K562	blood:
3	chr1:184904288..184906671-chr1:185015109..185016828,2	K562	blood:

Variant related genes	Relation type
ENSG00000121481	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs16823452	1.00[EUR][1000 genomes]
rs16823480	1.00[EUR][1000 genomes]
rs16823513	1.00[EUR][1000 genomes]
rs2181240	1.00[EUR][1000 genomes]
rs234638	1.00[EUR][1000 genomes]
rs234639	1.00[EUR][1000 genomes]
rs234666	1.00[EUR][1000 genomes]
rs234671	1.00[EUR][1000 genomes]
rs234675	1.00[EUR][1000 genomes]
rs234685	1.00[ASN][1000 genomes]
rs28521358	1.00[EUR][1000 genomes]
rs35543943	1.00[EUR][1000 genomes]
rs56385425	1.00[EUR][1000 genomes]
rs56796054	1.00[EUR][1000 genomes]
rs58814142	1.00[EUR][1000 genomes]
rs61372488	1.00[EUR][1000 genomes]
rs6664204	1.00[EUR][1000 genomes]
rs6679466	1.00[EUR][1000 genomes]
rs669649	1.00[EUR][1000 genomes]
rs7413163	1.00[EUR][1000 genomes]
rs74132003	1.00[EUR][1000 genomes]
rs74132025	1.00[EUR][1000 genomes]
rs74132034	1.00[EUR][1000 genomes]
rs74132036	1.00[EUR][1000 genomes]
rs74132037	1.00[EUR][1000 genomes]
rs74132038	1.00[EUR][1000 genomes]
rs74132050	1.00[EUR][1000 genomes]
rs74134139	1.00[EUR][1000 genomes]
rs7521888	1.00[EUR][1000 genomes]
rs7526101	1.00[EUR][1000 genomes]
rs7528332	1.00[EUR][1000 genomes]
rs7541371	1.00[EUR][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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv872586	chr1:184814555-184948689	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184889600-184908200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:184898000-184907000	Weak transcription	Lung	lung
3	chr1:184898000-184916600	Weak transcription	Esophagus	oesophagus
4	chr1:184898000-184926200	Weak transcription	Spleen	Spleen
5	chr1:184899400-184913600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:184900000-184907600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:184900000-184910000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:184900000-184913000	Weak transcription	K562	blood
9	chr1:184900000-184913200	Weak transcription	NHEK	skin
10	chr1:184900000-184913800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:184900200-184913800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:184900400-184911800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:184901200-184910600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:184902000-184915000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:184902400-184906800	Weak transcription	Pancreas	Pancrea
16	chr1:184903000-184913800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:184903600-184916600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:184904800-184906000	Enhancers	Left Ventricle	heart
19	chr1:184904800-184910200	Enhancers	Fetal Heart	heart
20	chr1:184905000-184906000	Enhancers	Fetal Muscle Leg	muscle
21	chr1:184905200-184906000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:184905200-184906000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr1:184905200-184907200	Enhancers	Psoas Muscle	Psoas
24	chr1:184905200-184907200	Enhancers	Right Atrium	heart
25	chr1:184905200-184907400	Enhancers	Aorta	Aorta
26	chr1:184905400-184906000	Enhancers	Stomach Smooth Muscle	stomach
27	chr1:184905400-184907000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:184905400-184907200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:184905400-184908800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr1:184905600-184906000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:184905600-184906000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr1:184905600-184906200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:184905600-184906600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:184905600-184906600	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:184905600-184906600	Weak transcription	GM12878-XiMat	blood
36	chr1:184905600-184906800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr1:184905600-184909600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:184905600-184923200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:184905800-184906600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:184905800-184906600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:184905800-184906600	Weak transcription	Right Ventricle	heart
42	chr1:184905800-184906800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:184905800-184906800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:184905800-184907000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:184905800-184907000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:184905800-184909800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr1:184905800-184913000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:184905800-184913600	Weak transcription	Fetal Stomach	stomach
49	chr1:184905800-184921800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:184905800-184923200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links