Variant report

Variant	rs273995
Chromosome Location	chr7:137629146-137629147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137627790..137630235-chr7:137645055..137648680,3	K562	blood:
2	chr7:137620870..137622447-chr7:137627955..137630199,2	K562	blood:
3	chr7:137627223..137629575-chr7:137685502..137688202,2	K562	blood:
4	chr7:137627051..137629539-chr7:137676163..137677717,2	K562	blood:

Variant related genes	Relation type
ENSG00000122787	Chromatin interaction
ENSG00000182158	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs110595	0.85[ASN][1000 genomes]
rs112417	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12534066	0.81[LWK][hapmap]
rs273973	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs273974	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs273975	0.81[JPT][hapmap]
rs273976	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs273977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273978	0.87[JPT][hapmap]
rs273979	0.93[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs273980	0.93[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs273981	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273983	0.87[JPT][hapmap]
rs273984	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273986	0.89[ASN][1000 genomes]
rs273987	0.93[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs273988	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273989	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273990	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273992	0.93[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs273994	0.87[JPT][hapmap]
rs273996	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273998	0.86[JPT][hapmap]
rs274000	0.87[JPT][hapmap]
rs274001	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs274002	1.00[CEU][hapmap];0.93[CHB][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.84[ASN][1000 genomes]
rs274003	0.89[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs274004	0.85[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs274005	0.81[JPT][hapmap]
rs274007	0.85[CEU][hapmap];0.87[GIH][hapmap]
rs274008	0.81[JPT][hapmap]
rs274009	0.81[JPT][hapmap]
rs274010	0.81[JPT][hapmap]
rs7795277	0.84[EUR][1000 genomes]
rs9886131	0.81[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	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137615600-137635600	Weak transcription	Hela-S3	cervix
2	chr7:137618200-137637200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:137621200-137638000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:137621400-137651800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr7:137621800-137633800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:137622000-137643000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:137622200-137636600	Weak transcription	Esophagus	oesophagus
8	chr7:137622200-137638200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:137622200-137643200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr7:137622400-137638400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:137624000-137629200	Enhancers	Placenta	Placenta
12	chr7:137624000-137629400	Enhancers	Fetal Intestine Large	intestine
13	chr7:137624200-137629400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:137624200-137633400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:137624400-137629200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr7:137624400-137629400	Enhancers	Fetal Intestine Small	intestine
17	chr7:137624600-137629200	Enhancers	Stomach Mucosa	stomach
18	chr7:137624800-137629400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr7:137625200-137629200	Enhancers	Pancreas	Pancrea
20	chr7:137625800-137629400	Enhancers	Colon Smooth Muscle	Colon
21	chr7:137625800-137637200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:137625800-137638200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:137626000-137629200	Enhancers	Fetal Stomach	stomach
24	chr7:137626000-137629800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:137626000-137632800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:137626000-137637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:137626000-137637000	Weak transcription	NHEK	skin
28	chr7:137626000-137646200	Weak transcription	HMEC	breast
29	chr7:137626200-137629400	Enhancers	Rectal Smooth Muscle	rectum
30	chr7:137626400-137630800	Weak transcription	Gastric	stomach
31	chr7:137626400-137631800	Weak transcription	Lung	lung
32	chr7:137626400-137637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:137626400-137637400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr7:137626800-137629400	Enhancers	Brain Cingulate Gyrus	brain
35	chr7:137626800-137631400	Enhancers	Stomach Smooth Muscle	stomach
36	chr7:137627000-137629200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:137627000-137629200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr7:137627000-137629400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:137627000-137629400	Enhancers	NHDF-Ad	bronchial
40	chr7:137627200-137629200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:137627200-137629400	Enhancers	Liver	Liver
42	chr7:137627200-137629400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr7:137627400-137629200	Enhancers	Brain Angular Gyrus	brain
44	chr7:137627400-137629400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:137627400-137629400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr7:137627400-137629400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr7:137627400-137638200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:137627600-137629200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:137627600-137629200	Strong transcription	Primary B cells from cord blood	blood
50	chr7:137627600-137629200	Enhancers	A549	lung

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