Variant report

Variant	rs7708710
Chromosome Location	chr5:74722427-74722428
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	chr5:74722161..74724280-chr5:74725505..74728463,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1004201	1.00[EUR][1000 genomes]
rs1363460	1.00[EUR][1000 genomes]
rs16872663	1.00[EUR][1000 genomes]
rs17244862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1820647	1.00[EUR][1000 genomes]
rs3097154	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs3889900	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744573	1.00[EUR][1000 genomes]
rs5744574	1.00[EUR][1000 genomes]
rs5744590	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs5744607	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs5744614	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs5744690	1.00[CEU][hapmap]
rs5744702	1.00[EUR][1000 genomes]
rs58548840	1.00[EUR][1000 genomes]
rs58900885	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59896135	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6885301	1.00[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	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7708710	ENC1	cis	lymphoblastoid	seeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74656400-74725600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:74656800-74731400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:74660000-74722800	Weak transcription	Fetal Heart	heart
4	chr5:74667000-74723200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr5:74670800-74731400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:74671000-74722800	Weak transcription	Hela-S3	cervix
7	chr5:74674400-74761400	Weak transcription	Esophagus	oesophagus
8	chr5:74677400-74722800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:74677600-74734200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:74677800-74725000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:74677800-74731400	Weak transcription	Aorta	Aorta
12	chr5:74678000-74730800	Weak transcription	Psoas Muscle	Psoas
13	chr5:74680800-74722600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr5:74681000-74723200	Weak transcription	HUVEC	blood vessel
15	chr5:74684000-74731200	Weak transcription	HSMMtube	muscle
16	chr5:74695400-74723200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:74699600-74731200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr5:74703800-74722600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr5:74703800-74723000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr5:74704200-74723200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:74706000-74731400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:74706200-74756400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:74708400-74725400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:74708400-74746000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr5:74708600-74724600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:74708600-74727800	Weak transcription	NHLF	lung
27	chr5:74709400-74726600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:74709600-74726600	Weak transcription	Pancreas	Pancrea
29	chr5:74709600-74732000	Weak transcription	Spleen	Spleen
30	chr5:74709600-74760200	Weak transcription	Gastric	stomach
31	chr5:74709800-74722800	Weak transcription	K562	blood
32	chr5:74711800-74722800	Weak transcription	Stomach Mucosa	stomach
33	chr5:74712000-74723000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:74712800-74723000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:74713200-74753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:74714200-74722800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr5:74714400-74731600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:74715000-74722800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr5:74715200-74722800	Weak transcription	Fetal Brain Female	brain
40	chr5:74715600-74723000	Weak transcription	NHEK	skin
41	chr5:74716600-74722800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:74717200-74722600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:74717400-74722600	Strong transcription	GM12878-XiMat	blood
44	chr5:74718200-74722600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr5:74718200-74722600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr5:74718400-74722800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:74718600-74726600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr5:74718800-74742200	Weak transcription	Colon Smooth Muscle	Colon
49	chr5:74719000-74726600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:74719000-74731400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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