Variant report

Variant	rs150938
Chromosome Location	chr5:118855889-118855890
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10064000	0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10077888	0.82[CHB][hapmap]
rs10478422	0.90[CHB][hapmap]
rs10478424	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs11205	1.00[CHB][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs11241507	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1155777	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11949608	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]
rs12187149	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1490756	0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1509144	0.83[CHB][hapmap]
rs154596	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs161853	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs161854	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs161855	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1620133	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1651227	0.82[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs165995	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs17145464	0.82[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1848554	0.95[CHB][hapmap]
rs1995794	0.91[CHB][hapmap]
rs2451814	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs2451815	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2459727	0.93[ASN][1000 genomes]
rs257969	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257979	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs257980	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257983	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs257985	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2914210	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs366568	0.81[EUR][1000 genomes]
rs3797368	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3797372	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3822527	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3933553	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs455991	0.86[CHB][hapmap]
rs6897978	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs7716785	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7721752	0.90[CHB][hapmap]
rs924623	0.86[CHB][hapmap]

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	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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118794800-118861200	Weak transcription	HSMM	muscle
2	chr5:118804200-118879600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:118832400-118878200	Weak transcription	NH-A	brain
4	chr5:118832600-118868600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:118833000-118860200	Weak transcription	Stomach Mucosa	stomach
6	chr5:118838000-118869200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:118840200-118878400	Weak transcription	Psoas Muscle	Psoas
8	chr5:118841000-118856600	Strong transcription	Liver	Liver
9	chr5:118841000-118880000	Weak transcription	Brain Germinal Matrix	brain
10	chr5:118841200-118880000	Weak transcription	A549	lung
11	chr5:118841400-118873200	Weak transcription	Fetal Brain Male	brain
12	chr5:118842200-118860200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:118845800-118868800	Weak transcription	Fetal Heart	heart
14	chr5:118846800-118857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:118846800-118860200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:118846800-118862800	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:118846800-118878200	Weak transcription	NHLF	lung
18	chr5:118847000-118860000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:118847000-118863000	Weak transcription	NHDF-Ad	bronchial
20	chr5:118847000-118868000	Weak transcription	K562	blood
21	chr5:118847200-118873200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr5:118847200-118877800	Weak transcription	Small Intestine	intestine
23	chr5:118847200-118878200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:118847200-118879800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:118847400-118856400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:118847400-118861000	Weak transcription	Hela-S3	cervix
27	chr5:118847400-118863000	Weak transcription	HMEC	breast
28	chr5:118847400-118872000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr5:118847400-118873000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr5:118847400-118873200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr5:118847400-118873800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr5:118847400-118875800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr5:118847400-118876000	Weak transcription	Colonic Mucosa	Colon
34	chr5:118847400-118878200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr5:118847400-118879800	Weak transcription	HSMMtube	muscle
36	chr5:118847600-118863400	Weak transcription	Brain Angular Gyrus	brain
37	chr5:118847600-118865000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr5:118847600-118873200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr5:118847600-118873400	Weak transcription	Fetal Muscle Leg	muscle
40	chr5:118847600-118873600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:118847600-118877600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:118847600-118878200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:118847600-118879800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr5:118848000-118863400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr5:118848200-118863200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:118848600-118863800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr5:118850000-118865600	Weak transcription	GM12878-XiMat	blood
48	chr5:118851200-118861200	Weak transcription	HUVEC	blood vessel
49	chr5:118851400-118860400	Weak transcription	Primary B cells from cord blood	blood
50	chr5:118851400-118861000	Weak transcription	Rectal Mucosa Donor 29	rectum

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