Variant report

Variant	rs11949608
Chromosome Location	chr5:118866048-118866049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118863717..118866521-chr5:118868164..118871056,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10064000	0.88[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10478422	0.85[CHB][hapmap]
rs1112247	0.86[CHB][hapmap]
rs11205	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs11241507	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1155777	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12187149	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13155880	0.83[CHB][hapmap]
rs1490756	0.84[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs150938	0.81[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs154596	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs161853	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs161854	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs161855	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1620133	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1651227	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs165995	0.94[CHB][hapmap];0.83[ASN][1000 genomes]
rs17145464	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1848554	0.90[CHB][hapmap]
rs1995794	0.86[CHB][hapmap]
rs2451815	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2459727	0.90[ASN][1000 genomes]
rs246968	0.81[ASN][1000 genomes]
rs250299	0.82[CHB][hapmap]
rs257969	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs257979	0.84[ASN][1000 genomes]
rs257980	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs257983	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs257985	0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2914210	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs32658	0.82[CHB][hapmap]
rs3797368	0.88[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3797372	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3813308	0.86[CHB][hapmap]
rs3822527	0.84[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3933553	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs455991	0.81[CHB][hapmap]
rs7716785	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7721752	0.85[CHB][hapmap]
rs924623	0.81[CHB][hapmap]

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	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv882776	chr5:118859546-118915408	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv969943	chr5:118864122-118868093	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118804200-118879600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:118832400-118878200	Weak transcription	NH-A	brain
3	chr5:118832600-118868600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:118838000-118869200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:118840200-118878400	Weak transcription	Psoas Muscle	Psoas
6	chr5:118841000-118880000	Weak transcription	Brain Germinal Matrix	brain
7	chr5:118841200-118880000	Weak transcription	A549	lung
8	chr5:118841400-118873200	Weak transcription	Fetal Brain Male	brain
9	chr5:118845800-118868800	Weak transcription	Fetal Heart	heart
10	chr5:118846800-118878200	Weak transcription	NHLF	lung
11	chr5:118847000-118868000	Weak transcription	K562	blood
12	chr5:118847200-118873200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:118847200-118877800	Weak transcription	Small Intestine	intestine
14	chr5:118847200-118878200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:118847200-118879800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:118847400-118872000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:118847400-118873000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:118847400-118873200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:118847400-118873800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:118847400-118875800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr5:118847400-118876000	Weak transcription	Colonic Mucosa	Colon
22	chr5:118847400-118878200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:118847400-118879800	Weak transcription	HSMMtube	muscle
24	chr5:118847600-118873200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:118847600-118873400	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:118847600-118873600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:118847600-118877600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:118847600-118878200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:118847600-118879800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr5:118851800-118876400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr5:118852800-118878200	Weak transcription	Aorta	Aorta
32	chr5:118853000-118880200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:118853400-118878200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:118853400-118878200	Weak transcription	Esophagus	oesophagus
35	chr5:118853400-118878200	Weak transcription	Gastric	stomach
36	chr5:118854200-118875600	Weak transcription	Pancreas	Pancrea
37	chr5:118854400-118877600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:118854400-118878400	Weak transcription	Spleen	Spleen
39	chr5:118854400-118879600	Weak transcription	Fetal Kidney	kidney
40	chr5:118854400-118880600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:118854800-118875600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:118854800-118877600	Weak transcription	Fetal Intestine Small	intestine
43	chr5:118854800-118878200	Weak transcription	Thymus	Thymus
44	chr5:118855200-118867000	Weak transcription	Brain Anterior Caudate	brain
45	chr5:118855200-118873200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr5:118855400-118874200	Weak transcription	Ovary	ovary
47	chr5:118855400-118875800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr5:118855400-118876400	Weak transcription	Lung	lung
49	chr5:118855600-118873200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr5:118855600-118878200	Weak transcription	Fetal Stomach	stomach

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