Variant report

Variant	rs10074995
Chromosome Location	chr5:127304231-127304232
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:127302848..127305903-chr5:127417512..127420188,4	MCF-7	breast:
2	chr5:127212523..127214164-chr5:127301948..127304809,2	MCF-7	breast:
3	chr5:127302540..127306473-chr5:127313949..127316469,3	MCF-7	breast:
4	chr5:127301710..127304376-chr5:127421505..127423068,2	MCF-7	breast:
5	chr5:127216027..127217529-chr5:127303056..127305148,2	MCF-7	breast:
6	chr5:127286727..127288267-chr5:127302316..127305106,2	MCF-7	breast:
7	chr5:127256203..127258500-chr5:127301825..127304365,2	MCF-7	breast:
8	chr5:127297981..127299833-chr5:127300238..127305210,4	MCF-7	breast:
9	chr5:127302253..127305011-chr5:127417884..127420763,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBN2-7	chr5:127304034-127304811	ucscGeneNc_uc003kun_2

No data

Variant related genes	Relation type
ENSG00000064651	Chromatin interaction
ENSG00000245937	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10037914	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10065448	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10072806	0.85[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap]
rs10079317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10463834	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10478787	0.84[JPT][hapmap]
rs10900794	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11740438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11740439	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11741283	0.92[ASN][1000 genomes]
rs12517005	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12523625	0.84[JPT][hapmap]
rs12653621	0.84[ASN][1000 genomes]
rs12658023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13361741	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1520246	1.00[JPT][hapmap];1.00[TSI][hapmap]
rs2286386	0.82[ASN][1000 genomes]
rs2409037	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs28473744	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28542972	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28567046	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28591675	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28636438	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28687461	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28736542	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28816429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4836345	1.00[JPT][hapmap];1.00[TSI][hapmap]
rs55896045	0.92[ASN][1000 genomes]
rs6877403	0.92[ASN][1000 genomes]
rs6892704	0.84[JPT][hapmap]
rs6898956	0.92[ASN][1000 genomes]
rs732236	0.84[JPT][hapmap]
rs9327457	1.00[JPT][hapmap]
rs9327458	0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127290600-127332000	Weak transcription	Aorta	Aorta
2	chr5:127292800-127314400	Weak transcription	Pancreas	Pancrea
3	chr5:127295600-127304400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:127295800-127322800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:127296200-127304800	Weak transcription	Brain Substantia Nigra	brain
6	chr5:127296200-127306000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:127296200-127307200	Weak transcription	NHLF	lung
8	chr5:127296200-127322600	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:127296400-127304800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:127296400-127304800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:127296400-127305200	Weak transcription	Brain Anterior Caudate	brain
12	chr5:127296400-127306400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:127297000-127305200	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:127297600-127304600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:127297600-127313200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:127297600-127332000	Weak transcription	Primary B cells from cord blood	blood
17	chr5:127297800-127306400	Weak transcription	Psoas Muscle	Psoas
18	chr5:127297800-127306400	Weak transcription	Right Atrium	heart
19	chr5:127297800-127323200	Weak transcription	Gastric	stomach
20	chr5:127297800-127323600	Weak transcription	HSMMtube	muscle
21	chr5:127297800-127358400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:127298400-127304800	Weak transcription	Small Intestine	intestine
23	chr5:127298600-127314400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:127300600-127312600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:127302200-127304800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:127302400-127304800	Weak transcription	Right Ventricle	heart
27	chr5:127302400-127306800	Weak transcription	GM12878-XiMat	blood
28	chr5:127302400-127307000	Weak transcription	Ovary	ovary
29	chr5:127302400-127321600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:127302400-127323400	Weak transcription	Fetal Stomach	stomach
31	chr5:127302600-127305800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:127302600-127306400	Weak transcription	Left Ventricle	heart
33	chr5:127302600-127309800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:127302600-127322800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:127302800-127304600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:127302800-127306800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr5:127302800-127306800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:127302800-127306800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:127302800-127306800	Enhancers	HMEC	breast
40	chr5:127302800-127306800	Enhancers	NHEK	skin
41	chr5:127303000-127304600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:127303800-127305000	Enhancers	NHDF-Ad	bronchial
43	chr5:127304000-127333400	Weak transcription	Primary T cells from cord blood	blood
44	chr5:127304200-127305200	Weak transcription	Stomach Mucosa	stomach
45	chr5:127304200-127305400	Weak transcription	Esophagus	oesophagus
46	chr5:127304200-127316000	Weak transcription	A549	lung

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