Variant report

Variant	rs7638643
Chromosome Location	chr3:49565842-49565843
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49565205..49567753-chr3:49570850..49573509,2	K562	blood:
2	chr3:49565566..49567753-chr3:49570850..49572538,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs6774721	1.00[ASN][1000 genomes]
rs73073005	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73073007	1.00[ASN][1000 genomes]
rs73074830	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73074855	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077107	1.00[ASN][1000 genomes]
rs73077157	1.00[ASN][1000 genomes]
rs73079003	1.00[ASN][1000 genomes]
rs73088122	1.00[ASN][1000 genomes]
rs73088161	1.00[ASN][1000 genomes]
rs7623687	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv237516	chr3:49565736-49566283	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7638643	IHPK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49529600-49568600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr3:49539600-49568600	Weak transcription	Small Intestine	intestine
3	chr3:49546200-49577000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr3:49547000-49572000	Weak transcription	Fetal Brain Male	brain
5	chr3:49548400-49577400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:49549200-49568800	Weak transcription	Osteobl	bone
7	chr3:49550800-49568400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:49551400-49571400	Weak transcription	Stomach Mucosa	stomach
9	chr3:49551400-49572200	Weak transcription	NH-A	brain
10	chr3:49551600-49567600	Weak transcription	K562	blood
11	chr3:49551600-49569400	Weak transcription	Fetal Kidney	kidney
12	chr3:49553800-49568400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:49554000-49567000	Weak transcription	A549	lung
14	chr3:49554000-49567600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:49554400-49568200	Weak transcription	NHDF-Ad	bronchial
16	chr3:49555400-49567600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:49555400-49567600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:49555400-49567800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr3:49555400-49568000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr3:49555400-49568200	Weak transcription	NHLF	lung
21	chr3:49555400-49568600	Weak transcription	Fetal Lung	lung
22	chr3:49555600-49567800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:49555800-49568400	Weak transcription	HUVEC	blood vessel
24	chr3:49555800-49572200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr3:49556000-49568000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr3:49556000-49568000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr3:49556000-49568600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr3:49556200-49567000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr3:49556200-49567400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr3:49556200-49567600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr3:49556200-49568000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr3:49556400-49567800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:49556400-49567800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr3:49556600-49566800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr3:49556600-49567200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr3:49557000-49567800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr3:49557000-49567800	Weak transcription	Colonic Mucosa	Colon
38	chr3:49557000-49568400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:49557200-49567800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr3:49557200-49568200	Weak transcription	Colon Smooth Muscle	Colon
41	chr3:49557600-49572000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr3:49557800-49567400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr3:49557800-49567400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr3:49557800-49567600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr3:49558000-49567600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:49558000-49567600	Weak transcription	Aorta	Aorta
47	chr3:49558000-49568000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr3:49558000-49568200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr3:49558000-49568200	Weak transcription	Ovary	ovary
50	chr3:49558200-49567600	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links