Variant report

Variant	rs2481638
Chromosome Location	chr1:176067069-176067070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10753116	1.00[EUR][1000 genomes]
rs10798426	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10913130	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1858182	1.00[AMR][1000 genomes]
rs2049256	1.00[AMR][1000 genomes]
rs2177205	1.00[EUR][1000 genomes]
rs2481645	1.00[EUR][1000 genomes]
rs2481654	1.00[EUR][1000 genomes]
rs2502846	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3979615	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4361950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4622022	1.00[EUR][1000 genomes]
rs4631649	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650931	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6657175	1.00[EUR][1000 genomes]
rs6662293	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6693536	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7551432	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs812066	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv872564	chr1:176027978-176102808	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv548246	chr1:176043797-176136273	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv872565	chr1:176058782-176172795	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:176028200-176079200	Weak transcription	HSMMtube	muscle
3	chr1:176035000-176069800	Weak transcription	NHEK	skin
4	chr1:176035200-176067600	Weak transcription	Colonic Mucosa	Colon
5	chr1:176035400-176067200	Weak transcription	HUVEC	blood vessel
6	chr1:176037200-176067200	Weak transcription	Small Intestine	intestine
7	chr1:176037200-176067400	Weak transcription	Osteobl	bone
8	chr1:176038600-176068800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:176039200-176068800	Weak transcription	HMEC	breast
10	chr1:176042800-176067200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:176046600-176082200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:176048400-176067600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:176048800-176107000	Weak transcription	HepG2	liver
14	chr1:176049200-176067200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:176050400-176067200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:176050400-176067200	Weak transcription	HSMM	muscle
17	chr1:176050400-176067200	Weak transcription	NHDF-Ad	bronchial
18	chr1:176052800-176068400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:176054400-176131600	Weak transcription	NH-A	brain
20	chr1:176055000-176141600	Weak transcription	Hela-S3	cervix
21	chr1:176058000-176070000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:176059400-176070200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:176059600-176068400	Weak transcription	Dnd41	blood
24	chr1:176060200-176067200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:176060400-176067200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:176061200-176072800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:176062400-176072000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr1:176063200-176068800	Weak transcription	Spleen	Spleen
29	chr1:176064000-176067200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr1:176064000-176068800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:176064400-176072800	ZNF genes & repeats	Primary T cells from cord blood	blood
32	chr1:176064400-176072800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:176064600-176067600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
34	chr1:176064600-176070400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:176064600-176072800	ZNF genes & repeats	Liver	Liver
36	chr1:176064800-176068600	Weak transcription	Right Ventricle	heart
37	chr1:176064800-176070400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:176065000-176068200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:176065000-176069800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:176065000-176071800	ZNF genes & repeats	Adipose Nuclei	Adipose
41	chr1:176065200-176067200	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:176065200-176067200	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr1:176065200-176067400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:176065200-176067400	ZNF genes & repeats	Fetal Muscle Leg	muscle
45	chr1:176065200-176068200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:176065200-176068400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:176065200-176069000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
48	chr1:176065200-176070000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr1:176065400-176067200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr1:176065400-176067400	ZNF genes & repeats	Fetal Muscle Trunk	muscle

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