Variant report

Variant	rs10040931
Chromosome Location	chr5:127296677-127296678
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127294744..127297859-chr5:127418074..127420896,5	MCF-7	breast:
2	chr5:127292969..127298749-chr5:127417448..127421101,7	MCF-7	breast:
3	chr5:127296445..127298165-chr5:127301266..127303118,2	MCF-7	breast:
4	chr5:127216714..127218320-chr5:127295438..127298339,2	MCF-7	breast:
5	chr5:127291358..127294527-chr5:127295144..127299558,4	K562	blood:
6	chr5:127296452..127298313-chr5:127306696..127308736,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064651	Chromatin interaction
ENSG00000245937	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10041355	0.92[EUR][1000 genomes]
rs10041388	0.92[EUR][1000 genomes]
rs10052149	0.84[EUR][1000 genomes]
rs10055964	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs10057048	0.84[EUR][1000 genomes]
rs10059403	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs10076010	0.83[EUR][1000 genomes]
rs1013374	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1013375	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10478786	0.93[EUR][1000 genomes]
rs10478787	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs10478788	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs10478790	0.83[EUR][1000 genomes]
rs10478792	0.85[CEU][hapmap]
rs10519966	0.84[ASN][1000 genomes]
rs10519968	0.83[CEU][hapmap]
rs10519977	0.82[CEU][hapmap]
rs11745009	0.94[EUR][1000 genomes]
rs11745023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12523625	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs13161109	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13174053	0.93[EUR][1000 genomes]
rs13177354	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs13180050	0.94[EUR][1000 genomes]
rs1558149	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs17164449	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17606751	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs17674953	0.84[ASN][1000 genomes]
rs17839662	0.84[ASN][1000 genomes]
rs1860058	0.84[ASN][1000 genomes]
rs2041143	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2108652	0.84[EUR][1000 genomes]
rs2108654	0.93[EUR][1000 genomes]
rs2159110	0.86[EUR][1000 genomes]
rs2409038	0.92[EUR][1000 genomes]
rs2409039	0.92[EUR][1000 genomes]
rs2409040	0.89[EUR][1000 genomes]
rs2898077	0.93[EUR][1000 genomes]
rs34498802	0.80[EUR][1000 genomes]
rs35713319	0.83[EUR][1000 genomes]
rs3749746	0.84[ASN][1000 genomes]
rs4835934	0.93[EUR][1000 genomes]
rs5008451	0.93[CEU][hapmap]
rs56053416	0.84[ASN][1000 genomes]
rs56100852	0.84[ASN][1000 genomes]
rs56181801	0.84[ASN][1000 genomes]
rs56275766	0.84[ASN][1000 genomes]
rs59634534	0.93[EUR][1000 genomes]
rs59913942	0.84[ASN][1000 genomes]
rs6867103	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs6867442	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs6867465	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs6867644	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs6881456	0.93[EUR][1000 genomes]
rs6889393	0.83[EUR][1000 genomes]
rs6892704	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs6895467	0.84[ASN][1000 genomes]
rs6897057	0.84[ASN][1000 genomes]
rs72792241	0.84[ASN][1000 genomes]
rs72792242	0.84[ASN][1000 genomes]
rs72792259	0.84[ASN][1000 genomes]
rs732235	0.94[EUR][1000 genomes]
rs732236	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs768528	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7711592	0.84[ASN][1000 genomes]
rs7711776	0.82[CEU][hapmap]
rs7713304	0.84[ASN][1000 genomes]
rs7713606	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7717705	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7718065	0.84[ASN][1000 genomes]
rs7732912	0.81[EUR][1000 genomes]
rs9327458	0.82[CEU][hapmap]
rs9327460	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs9327461	0.82[EUR][1000 genomes]
rs9327462	0.82[CEU][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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127285800-127303800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr5:127287400-127297200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr5:127290600-127332000	Weak transcription	Aorta	Aorta
4	chr5:127290800-127297400	Weak transcription	Spleen	Spleen
5	chr5:127292200-127297600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:127292600-127298400	Enhancers	Fetal Intestine Large	intestine
7	chr5:127292600-127298600	Enhancers	Fetal Intestine Small	intestine
8	chr5:127292800-127297200	Enhancers	Fetal Lung	lung
9	chr5:127292800-127297600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr5:127292800-127297800	Enhancers	HUVEC	blood vessel
11	chr5:127292800-127298400	Enhancers	Fetal Heart	heart
12	chr5:127292800-127314400	Weak transcription	Pancreas	Pancrea
13	chr5:127293000-127297600	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr5:127293000-127298600	Enhancers	Stomach Mucosa	stomach
15	chr5:127293200-127297400	Weak transcription	Gastric	stomach
16	chr5:127293200-127301800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:127293200-127301800	Weak transcription	Ovary	ovary
18	chr5:127293200-127303600	Weak transcription	Esophagus	oesophagus
19	chr5:127293400-127297200	Weak transcription	Right Atrium	heart
20	chr5:127293600-127301800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:127294200-127297200	Enhancers	Dnd41	blood
22	chr5:127294200-127297600	Enhancers	Adipose Nuclei	Adipose
23	chr5:127294200-127297600	Enhancers	Rectal Smooth Muscle	rectum
24	chr5:127294400-127302800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:127294800-127297000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr5:127294800-127297200	Weak transcription	Thymus	Thymus
27	chr5:127295000-127296800	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr5:127295000-127297800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:127295000-127297800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:127295000-127298000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr5:127295000-127298400	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr5:127295200-127297800	Enhancers	Primary T cells from cord blood	blood
33	chr5:127295200-127298400	Enhancers	Small Intestine	intestine
34	chr5:127295200-127298600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr5:127295400-127297800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr5:127295400-127298000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr5:127295600-127297800	Enhancers	HSMMtube	muscle
38	chr5:127295600-127302600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:127295600-127304400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:127295800-127297000	Enhancers	A549	lung
41	chr5:127295800-127301800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:127295800-127322800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:127296000-127297000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:127296000-127299400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:127296000-127301800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr5:127296200-127297200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:127296200-127297400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr5:127296200-127298400	Enhancers	Right Ventricle	heart
49	chr5:127296200-127298600	Enhancers	Duodenum Mucosa	Duodenum
50	chr5:127296200-127299200	Weak transcription	NHDF-Ad	bronchial

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