Variant report

Variant	rs62183769
Chromosome Location	chr2:172838074-172838075
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172837079..172839859-chr2:172842621..172845693,4	K562	blood:
2	chr2:172836942..172840182-chr2:172865086..172867545,3	K562	blood:
3	chr2:172837171..172840943-chr2:172841139..172845693,4	K562	blood:
4	chr2:172835762..172838464-chr2:172846457..172848123,2	K562	blood:
5	chr2:172837275..172840182-chr2:172865086..172867056,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11676438	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35468668	0.81[AMR][1000 genomes]
rs4581870	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55653103	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62182403	0.84[AMR][1000 genomes]
rs62182436	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62183766	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62183770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183782	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62183784	0.87[AMR][1000 genomes]
rs62183785	0.87[AMR][1000 genomes]
rs62183800	0.85[AMR][1000 genomes]
rs62183801	0.87[AMR][1000 genomes]
rs6718013	0.87[AMR][1000 genomes]
rs6729945	0.85[AMR][1000 genomes]
rs6730085	0.85[AMR][1000 genomes]
rs6733794	0.86[AMR][1000 genomes]
rs6737308	0.82[ASN][1000 genomes]
rs6746701	0.85[AMR][1000 genomes]
rs7557612	0.85[AMR][1000 genomes]
rs7584187	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv436276	chr2:172831435-172841517	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3458695	chr2:172832445-172841110	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3458694	chr2:172832493-172841085	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3458693	chr2:172832508-172841056	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3458697	chr2:172832579-172841009	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv12560	chr2:172832837-172840816	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv442838	chr2:172834843-172840385	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62183769	AC068039.4	cis	Thyroid	GTEx
rs62183769	AC068039.4	cis	Muscle Skeletal	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172780200-172840400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:172780600-172847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
5	chr2:172783600-172851000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:172796000-172855200	Weak transcription	Gastric	stomach
7	chr2:172807400-172845400	Weak transcription	Spleen	Spleen
8	chr2:172808000-172847200	Weak transcription	Fetal Brain Female	brain
9	chr2:172808000-172849400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:172810000-172862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:172811400-172846200	Weak transcription	Brain Substantia Nigra	brain
12	chr2:172811800-172852200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:172811800-172855600	Weak transcription	Fetal Heart	heart
14	chr2:172812400-172845200	Weak transcription	Colonic Mucosa	Colon
15	chr2:172813000-172859200	Weak transcription	Fetal Brain Male	brain
16	chr2:172814000-172844400	Weak transcription	Pancreas	Pancrea
17	chr2:172815400-172850000	Weak transcription	HSMMtube	muscle
18	chr2:172816800-172844200	Weak transcription	NHLF	lung
19	chr2:172817800-172845200	Weak transcription	Psoas Muscle	Psoas
20	chr2:172821000-172838600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:172821000-172862800	Weak transcription	Brain Angular Gyrus	brain
22	chr2:172823000-172850400	Weak transcription	Right Ventricle	heart
23	chr2:172823200-172843600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:172823800-172839800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:172823800-172842600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:172823800-172843800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:172823800-172844000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr2:172823800-172851200	Weak transcription	Fetal Kidney	kidney
29	chr2:172824000-172841000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:172824000-172841200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:172824000-172842600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:172824000-172857800	Weak transcription	Brain Anterior Caudate	brain
33	chr2:172824000-172857800	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:172824200-172838400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:172824200-172850000	Weak transcription	NHDF-Ad	bronchial
36	chr2:172824200-172850400	Weak transcription	HMEC	breast
37	chr2:172824400-172843800	Weak transcription	NHEK	skin
38	chr2:172824400-172847200	Weak transcription	NH-A	brain
39	chr2:172825600-172842600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:172825800-172838200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:172825800-172846400	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:172826200-172843200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:172826400-172848400	Weak transcription	Hela-S3	cervix
44	chr2:172828800-172841400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:172829200-172847000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:172829600-172841200	Weak transcription	HepG2	liver
47	chr2:172829600-172842000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr2:172829800-172848000	Weak transcription	HUVEC	blood vessel
49	chr2:172830600-172842400	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:172832400-172839800	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links