Variant report

Variant	rs7714195
Chromosome Location	chr5:94042893-94042894
allele	A/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: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10075161	0.89[CEU][hapmap]
rs11135407	0.88[CEU][hapmap]
rs11135411	0.81[EUR][1000 genomes]
rs1124668	0.88[CEU][hapmap]
rs12515845	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs12523457	0.82[EUR][1000 genomes]
rs12651956	0.84[EUR][1000 genomes]
rs12653116	0.84[EUR][1000 genomes]
rs12655521	0.88[CEU][hapmap]
rs12655665	0.94[CEU][hapmap]
rs12656300	0.87[CEU][hapmap]
rs12659597	0.88[CEU][hapmap]
rs1390642	0.89[CEU][hapmap]
rs1451735	0.88[CEU][hapmap]
rs17083945	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs2003118	0.82[EUR][1000 genomes]
rs2044911	0.89[CEU][hapmap]
rs2047318	0.88[CEU][hapmap]
rs2122984	0.89[CEU][hapmap]
rs2122985	0.89[CEU][hapmap]
rs2132548	0.89[CEU][hapmap]
rs2270626	0.88[CEU][hapmap]
rs35111621	0.81[EUR][1000 genomes]
rs61152231	0.81[EUR][1000 genomes]
rs6556850	0.89[CEU][hapmap]
rs6556851	0.89[CEU][hapmap]
rs66666052	0.84[EUR][1000 genomes]
rs66901899	0.85[EUR][1000 genomes]
rs67573880	0.81[EUR][1000 genomes]
rs67577452	0.81[EUR][1000 genomes]
rs67674687	0.85[EUR][1000 genomes]
rs6879384	0.89[CEU][hapmap]
rs6883128	0.88[CEU][hapmap]
rs6883326	0.89[CEU][hapmap]
rs6890092	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs6891545	0.82[CEU][hapmap]
rs6897550	0.89[CEU][hapmap]
rs72773593	0.81[EUR][1000 genomes]
rs7446179	0.88[CEU][hapmap]
rs755900	0.89[CEU][hapmap]
rs7718956	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7735473	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs7735924	0.95[CHB][hapmap];0.81[JPT][hapmap];0.89[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

No data

Chromatin state (count:86 , 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	chr5:94028000-94043000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:94028000-94050600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:94028000-94051600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:94029000-94051400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:94029200-94045800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:94029200-94049000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:94029200-94050400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:94029200-94051800	Weak transcription	Brain Germinal Matrix	brain
37	chr5:94029200-94052400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:94029400-94048800	Weak transcription	HMEC	breast
39	chr5:94029400-94051200	Weak transcription	Fetal Brain Male	brain
40	chr5:94029400-94051400	Weak transcription	Fetal Heart	heart
41	chr5:94029800-94050000	Weak transcription	Osteobl	bone
42	chr5:94030200-94051400	Weak transcription	HSMM	muscle
43	chr5:94031000-94045600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:94031000-94047400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:94031000-94050000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr5:94031000-94050000	Weak transcription	Liver	Liver
47	chr5:94031000-94051200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr5:94031000-94052000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:94031200-94043000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:94031200-94044000	Weak transcription	Primary T cells fromperipheralblood	blood

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