Variant report

Variant	rs73234901
Chromosome Location	chr7:127398248-127398249
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127385551..127387981-chr7:127397918..127400507,2	K562	blood:
2	chr7:127383405..127387051-chr7:127397788..127400702,3	K562	blood:
3	chr7:127393820..127395660-chr7:127397100..127399520,2	MCF-7	breast:
4	chr7:127392140..127396702-chr7:127397073..127402376,5	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10954163	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11521053	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11971935	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11972774	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11976841	0.82[AFR][1000 genomes]
rs11976946	0.82[AFR][1000 genomes]
rs12531440	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12533846	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12539728	0.83[ASN][1000 genomes]
rs12540865	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13236900	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13237048	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs141450	0.83[ASN][1000 genomes]
rs17151241	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17151270	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2014583	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2016786	0.83[EUR][1000 genomes]
rs2402867	0.82[AFR][1000 genomes]
rs2402870	0.82[EUR][1000 genomes]
rs325440	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs325442	0.82[AFR][1000 genomes]
rs325444	0.82[AFR][1000 genomes]
rs35121681	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35940771	0.82[EUR][1000 genomes]
rs35971861	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3808092	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3808093	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3808095	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3808097	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4731378	0.83[EUR][1000 genomes]
rs58583807	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6467145	0.83[EUR][1000 genomes]
rs6961381	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6963455	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6968199	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73234880	0.81[AFR][1000 genomes]
rs7797663	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7799882	0.82[EUR][1000 genomes]
rs918793	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs972088	0.82[AFR][1000 genomes]
rs972089	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127362600-127400000	Weak transcription	Small Intestine	intestine
2	chr7:127373200-127410000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:127375400-127417400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:127375600-127401000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:127376800-127409200	Weak transcription	HUVEC	blood vessel
6	chr7:127377000-127409200	Weak transcription	NHLF	lung
7	chr7:127378200-127412200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr7:127378800-127401200	Weak transcription	Placenta	Placenta
9	chr7:127379200-127437400	Weak transcription	Fetal Stomach	stomach
10	chr7:127380000-127409200	Weak transcription	Aorta	Aorta
11	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
12	chr7:127386600-127399800	Weak transcription	Fetal Intestine Large	intestine
13	chr7:127388400-127406200	Weak transcription	Primary B cells from cord blood	blood
14	chr7:127388600-127407000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:127388600-127407000	Weak transcription	Dnd41	blood
16	chr7:127389000-127406000	Weak transcription	NHEK	skin
17	chr7:127390000-127399800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:127390200-127400000	Weak transcription	Fetal Intestine Small	intestine
19	chr7:127390200-127407200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:127390400-127403000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:127391400-127404200	Weak transcription	Fetal Brain Male	brain
22	chr7:127391600-127399400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr7:127391600-127407000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:127391600-127407000	Weak transcription	Primary T cells from cord blood	blood
25	chr7:127391800-127408400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:127392000-127399600	Weak transcription	HepG2	liver
27	chr7:127392000-127406400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:127392000-127408000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:127392000-127408000	Weak transcription	NH-A	brain
30	chr7:127392000-127409000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:127392000-127409600	Weak transcription	HMEC	breast
32	chr7:127392200-127399800	Weak transcription	Gastric	stomach
33	chr7:127392200-127407000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:127392200-127407800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr7:127392200-127408200	Weak transcription	NHDF-Ad	bronchial
36	chr7:127392200-127409000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:127392200-127409200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:127392200-127410400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:127392200-127411000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:127392400-127399800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:127392400-127407000	Weak transcription	HSMM	muscle
42	chr7:127392600-127398800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr7:127392600-127410000	Weak transcription	Left Ventricle	heart
44	chr7:127393000-127404200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:127393200-127400000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr7:127393200-127404400	Weak transcription	GM12878-XiMat	blood
47	chr7:127393200-127422800	Weak transcription	Fetal Thymus	thymus
48	chr7:127393400-127406000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:127393800-127400200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr7:127393800-127404800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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