Variant report

Variant	rs7735924
Chromosome Location	chr5:94043353-94043354
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94041697..94043970-chr5:94047357..94049354,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10037940	0.93[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10039102	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10039797	0.80[EUR][1000 genomes]
rs10052066	0.82[CEU][hapmap];0.91[GIH][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs10062402	0.87[EUR][1000 genomes]
rs10072894	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs10078522	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs1031389	0.80[MEX][hapmap]
rs10476614	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs1124667	0.82[CEU][hapmap];0.91[GIH][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs11948061	0.85[ASW][hapmap];0.96[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs12189060	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs1451734	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs1549179	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs2112448	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2112449	0.82[CEU][hapmap];0.91[GIH][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs2112450	0.85[ASW][hapmap];0.92[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs2636	0.92[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2638	0.93[ASW][hapmap];0.92[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs306574	0.81[EUR][1000 genomes]
rs306578	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs306580	0.82[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap]
rs421521	0.83[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs432449	0.81[CHD][hapmap];0.91[GIH][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes]
rs449798	0.85[YRI][hapmap]
rs6556849	0.87[EUR][1000 genomes]
rs6889062	0.85[YRI][hapmap]
rs747880	0.87[EUR][1000 genomes]
rs755899	0.85[EUR][1000 genomes]
rs755901	0.92[EUR][1000 genomes]
rs7709494	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs7711363	0.90[YRI][hapmap]
rs7714195	0.95[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs7718956	0.80[CHB][hapmap];0.82[CHD][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462254	chr5:93956937-94056825	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv598953	chr5:93956937-94056825	ZNF genes & repeats Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv882387	chr5:94001476-94071404	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7735924	ANKRD32	Cis_1M	lymphoblastoid	RTeQTL
rs7735924	C5orf36	cis	cerebellum	SCAN
rs7735924	MCTP1	Cis_1M	lymphoblastoid	RTeQTL
rs7735924	MCTP1	cis	lymphoblastoid	seeQTL
rs7735924	ANKRD32	cis	parietal	SCAN

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93991200-94049000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:93994200-94047200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:93994400-94048800	Weak transcription	Small Intestine	intestine
4	chr5:93995600-94050400	Weak transcription	Esophagus	oesophagus
5	chr5:93996600-94048400	Weak transcription	Lung	lung
6	chr5:94012600-94048400	Weak transcription	Aorta	Aorta
7	chr5:94012600-94048400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr5:94012600-94049000	Weak transcription	Left Ventricle	heart
9	chr5:94012600-94051000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:94012600-94053600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:94020200-94048400	Weak transcription	Psoas Muscle	Psoas
12	chr5:94020800-94050000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:94023200-94045600	Weak transcription	Primary B cells from cord blood	blood
14	chr5:94023200-94046400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:94023200-94049800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:94023200-94050400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr5:94023200-94051000	Weak transcription	Thymus	Thymus
18	chr5:94023400-94044200	Weak transcription	Primary T cells from cord blood	blood
19	chr5:94023400-94045000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr5:94023400-94050400	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:94023400-94051800	Weak transcription	Fetal Intestine Small	intestine
22	chr5:94024600-94046600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr5:94024600-94051800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr5:94025800-94046200	Weak transcription	Adipose Nuclei	Adipose
25	chr5:94025800-94050800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:94025800-94050800	Weak transcription	K562	blood
27	chr5:94025800-94051400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:94026400-94051600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr5:94028000-94050600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:94028000-94051600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:94029000-94051400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:94029200-94045800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:94029200-94049000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:94029200-94050400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:94029200-94051800	Weak transcription	Brain Germinal Matrix	brain
36	chr5:94029200-94052400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:94029400-94048800	Weak transcription	HMEC	breast
38	chr5:94029400-94051200	Weak transcription	Fetal Brain Male	brain
39	chr5:94029400-94051400	Weak transcription	Fetal Heart	heart
40	chr5:94029800-94050000	Weak transcription	Osteobl	bone
41	chr5:94030200-94051400	Weak transcription	HSMM	muscle
42	chr5:94031000-94045600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:94031000-94047400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:94031000-94050000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:94031000-94050000	Weak transcription	Liver	Liver
46	chr5:94031000-94051200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr5:94031000-94052000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:94031200-94044000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr5:94031200-94045000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr5:94031200-94046800	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links