Variant report

Variant	rs56340136
Chromosome Location	chr1:172326143-172326144
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172221315..172226024-chr1:172325981..172331432,5	MCF-7	breast:
2	chr1:172293750..172296257-chr1:172325539..172327779,3	MCF-7	breast:
3	chr1:171972033..171974516-chr1:172324931..172327450,2	MCF-7	breast:
4	chr1:172319507..172323495-chr1:172324646..172327530,4	MCF-7	breast:
5	chr1:172324502..172327438-chr1:172328565..172330761,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10489286	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1052256	1.00[ASN][1000 genomes]
rs10752953	1.00[ASN][1000 genomes]
rs1132148	1.00[ASN][1000 genomes]
rs12031216	1.00[ASN][1000 genomes]
rs17277918	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17277932	1.00[ASN][1000 genomes]
rs17368942	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17369011	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2422139	1.00[ASN][1000 genomes]
rs4916185	1.00[ASN][1000 genomes]
rs4916255	1.00[ASN][1000 genomes]
rs4916256	1.00[ASN][1000 genomes]
rs56259646	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61806074	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61806089	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61806090	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61806091	1.00[ASN][1000 genomes]
rs6660051	1.00[ASN][1000 genomes]
rs6674018	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425307	1.00[ASN][1000 genomes]
rs9425309	1.00[ASN][1000 genomes]
rs9425314	1.00[ASN][1000 genomes]
rs9425315	1.00[ASN][1000 genomes]
rs9425610	1.00[ASN][1000 genomes]
rs978875	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3543	chr1:172323563-172334586	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172313400-172327000	Weak transcription	Aorta	Aorta
2	chr1:172320800-172332800	Enhancers	Fetal Intestine Small	intestine
3	chr1:172321200-172326400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:172321200-172327000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:172321200-172327200	Weak transcription	Right Atrium	heart
6	chr1:172321200-172329600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:172321400-172326600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:172321400-172327000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:172321400-172327000	Weak transcription	Small Intestine	intestine
10	chr1:172321400-172327200	Weak transcription	Ovary	ovary
11	chr1:172321600-172327200	Weak transcription	Fetal Heart	heart
12	chr1:172322000-172327000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:172322000-172327000	Weak transcription	Fetal Stomach	stomach
14	chr1:172322400-172326400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:172322400-172327000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:172322400-172327000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:172322400-172327000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:172322400-172327600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:172322400-172329600	Weak transcription	Gastric	stomach
20	chr1:172322400-172331000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:172322600-172327800	Weak transcription	Psoas Muscle	Psoas
22	chr1:172322600-172328000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:172323000-172333000	Enhancers	Fetal Intestine Large	intestine
24	chr1:172323200-172326400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:172323200-172326800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:172323400-172327000	Enhancers	NH-A	brain
27	chr1:172323600-172326400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:172323600-172328200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr1:172323800-172326800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr1:172324000-172326200	Weak transcription	Stomach Mucosa	stomach
31	chr1:172324000-172326400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:172324000-172327000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:172324000-172327000	Enhancers	Colon Smooth Muscle	Colon
34	chr1:172324200-172326400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:172324200-172326800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:172324200-172327000	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:172324400-172327000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:172324600-172326400	Enhancers	GM12878-XiMat	blood
39	chr1:172324600-172327000	Enhancers	Hela-S3	cervix
40	chr1:172324800-172327000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:172324800-172327000	Enhancers	Osteobl	bone
42	chr1:172325000-172327000	Enhancers	Fetal Kidney	kidney
43	chr1:172325000-172327000	Enhancers	Rectal Smooth Muscle	rectum
44	chr1:172325000-172327200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr1:172325200-172326600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:172325200-172327000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:172325200-172327000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:172325200-172327000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:172325200-172327000	Enhancers	HUVEC	blood vessel
50	chr1:172325200-172327000	Enhancers	NHEK	skin

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