Variant report

Variant	rs1440005
Chromosome Location	chr2:64174242-64174243
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10167126	0.86[EUR][1000 genomes]
rs10184342	0.86[EUR][1000 genomes]
rs10207972	0.86[EUR][1000 genomes]
rs13391983	0.86[EUR][1000 genomes]
rs13392513	0.86[EUR][1000 genomes]
rs1975295	0.86[EUR][1000 genomes]
rs1975296	0.86[EUR][1000 genomes]
rs2422112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2901644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35121160	0.86[EUR][1000 genomes]
rs4381767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4507090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61389158	0.86[EUR][1000 genomes]
rs71393340	1.00[AFR][1000 genomes]
rs73935051	0.80[EUR][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	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv521717	chr2:64104132-64186582	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv874236	chr2:64154215-64179235	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1002209	chr2:64160385-64238475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64114000-64212000	Weak transcription	Small Intestine	intestine
2	chr2:64114200-64174800	Weak transcription	Right Ventricle	heart
3	chr2:64129600-64201000	Weak transcription	Hela-S3	cervix
4	chr2:64130400-64211200	Weak transcription	Fetal Brain Male	brain
5	chr2:64130800-64174800	Weak transcription	Stomach Mucosa	stomach
6	chr2:64137400-64204800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:64139800-64220600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:64140400-64187600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:64140400-64188800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:64141200-64187600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:64141400-64189200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:64142800-64189200	Weak transcription	Brain Substantia Nigra	brain
13	chr2:64147600-64178000	Weak transcription	A549	lung
14	chr2:64154400-64176800	Weak transcription	Colonic Mucosa	Colon
15	chr2:64154400-64202600	Weak transcription	Spleen	Spleen
16	chr2:64154600-64174800	Weak transcription	Thymus	Thymus
17	chr2:64154600-64202600	Weak transcription	Pancreas	Pancrea
18	chr2:64154800-64175000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:64154800-64175200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:64154800-64177400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
22	chr2:64155000-64174800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:64159200-64181400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr2:64159400-64175600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:64159600-64197800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:64159600-64211600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:64162800-64183600	Weak transcription	HSMMtube	muscle
28	chr2:64163200-64207600	Weak transcription	HUVEC	blood vessel
29	chr2:64165600-64175000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:64165600-64177000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:64165600-64193600	Weak transcription	NHLF	lung
32	chr2:64165800-64174800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:64165800-64202600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:64166000-64175000	Weak transcription	Lung	lung
35	chr2:64166800-64202600	Weak transcription	HMEC	breast
36	chr2:64167200-64174800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:64167400-64178000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:64168200-64174800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr2:64168200-64175000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:64168400-64198000	Weak transcription	Fetal Heart	heart
41	chr2:64168600-64174800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:64168600-64177000	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:64168600-64188000	Weak transcription	NH-A	brain
44	chr2:64168600-64202600	Weak transcription	Esophagus	oesophagus
45	chr2:64168600-64202600	Weak transcription	K562	blood
46	chr2:64168800-64174600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:64168800-64175000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:64168800-64177000	Weak transcription	NHDF-Ad	bronchial
49	chr2:64168800-64178000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:64168800-64192800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links