Variant report

Variant	rs273980
Chromosome Location	chr7:137618322-137618323
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137615597..137618364-chr7:137618491..137620760,2	K562	blood:
2	chr7:137601426..137603845-chr7:137616116..137618626,2	K562	blood:
3	chr7:137611909..137614588-chr7:137616790..137618864,2	K562	blood:
4	chr7:137600305..137602461-chr7:137615591..137618449,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182158	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs110595	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs112417	0.93[CHB][hapmap];0.93[JPT][hapmap];0.86[YRI][hapmap];0.89[ASN][1000 genomes]
rs273974	0.85[ASN][1000 genomes]
rs273975	0.85[CHB][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.98[TSI][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs273976	0.88[ASN][1000 genomes]
rs273977	0.93[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs273978	0.80[CEU][hapmap];0.85[CHB][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs273979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273981	0.93[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs273983	0.85[CHB][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs273984	0.93[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs273985	0.85[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs273986	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273988	0.93[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs273989	0.93[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs273990	0.93[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.85[ASN][1000 genomes]
rs273991	0.93[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs273992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273994	0.85[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs273995	0.93[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs273996	0.93[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs273998	0.84[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes]
rs273999	0.82[EUR][1000 genomes]
rs274000	0.85[CHB][hapmap];0.93[JPT][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap]
rs274001	0.88[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs274002	1.00[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs274003	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs274004	0.92[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs274005	0.86[JPT][hapmap]
rs274008	0.86[JPT][hapmap]
rs274009	0.87[GIH][hapmap];0.86[JPT][hapmap]
rs274010	0.84[GIH][hapmap];0.86[JPT][hapmap]
rs274012	0.85[CHB][hapmap]
rs9886131	0.86[JPT][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	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	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
3	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137588800-137618400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:137588800-137620200	Weak transcription	Dnd41	blood
3	chr7:137600200-137618400	Weak transcription	Fetal Thymus	thymus
4	chr7:137605800-137618400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:137606400-137619000	Weak transcription	Primary T cells from cord blood	blood
6	chr7:137611400-137620600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:137612000-137618400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:137612000-137620800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:137612800-137620400	Weak transcription	Fetal Lung	lung
10	chr7:137613000-137618400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:137613000-137618400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:137613000-137619200	Weak transcription	Thymus	Thymus
13	chr7:137613000-137621000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:137613200-137618600	Weak transcription	Colonic Mucosa	Colon
15	chr7:137613200-137621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:137613400-137620200	Enhancers	Placenta	Placenta
17	chr7:137613600-137619000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:137613600-137620800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:137614200-137620800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:137614800-137621000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:137615000-137619800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:137615000-137619800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:137615000-137622200	Enhancers	HUVEC	blood vessel
24	chr7:137615400-137618400	Weak transcription	Spleen	Spleen
25	chr7:137615400-137619200	Enhancers	NH-A	brain
26	chr7:137615400-137619400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:137615600-137635600	Weak transcription	Hela-S3	cervix
28	chr7:137615800-137618800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:137616200-137622200	Enhancers	Fetal Intestine Large	intestine
30	chr7:137616800-137618600	Enhancers	Fetal Kidney	kidney
31	chr7:137616800-137619400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr7:137617000-137619600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr7:137617000-137620600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr7:137617000-137622200	Enhancers	Small Intestine	intestine
35	chr7:137617000-137622400	Enhancers	Colon Smooth Muscle	Colon
36	chr7:137617200-137618400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:137617200-137618400	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr7:137617200-137618800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:137617200-137619200	Enhancers	Primary T cells fromperipheralblood	blood
40	chr7:137617200-137619200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:137617200-137619200	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr7:137617200-137619200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:137617200-137619200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:137617200-137619400	Enhancers	Left Ventricle	heart
45	chr7:137617200-137619400	Enhancers	Pancreas	Pancrea
46	chr7:137617200-137619400	Enhancers	Rectal Smooth Muscle	rectum
47	chr7:137617200-137619600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr7:137617200-137619600	Enhancers	Gastric	stomach
49	chr7:137617200-137619600	Enhancers	Psoas Muscle	Psoas
50	chr7:137617200-137619800	Enhancers	Primary monocytes fromperipheralblood	blood

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