Variant report

Variant	rs72964361
Chromosome Location	chr2:128109498-128109499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:128107155..128109690-chr2:128143179..128145881,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169967	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10169028	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10178188	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10195774	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10206392	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10211382	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10221754	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10439213	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10439214	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10451530	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1128974	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1129121	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385611	0.80[ASN][1000 genomes]
rs13406313	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13421256	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13424947	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13429050	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13431911	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1607437	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271026	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755310	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4150448	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150487	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150507	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4150512	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4150515	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55826634	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56276844	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57011781	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57547812	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57878090	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59283013	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59306090	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6710541	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6711086	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6727155	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740067	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740368	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6743815	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750648	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72956480	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72956485	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964335	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72964338	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964344	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964352	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564189	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584829	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7586961	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs878461	0.90[EUR][1000 genomes]
rs908787	0.90[EUR][1000 genomes]
rs9808452	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv3459771	chr2:128103479-128114160	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv3459772	chr2:128103655-128114047	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128059400-128109600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:128069000-128117000	Weak transcription	Small Intestine	intestine
3	chr2:128072200-128109600	Weak transcription	Esophagus	oesophagus
4	chr2:128072200-128111800	Weak transcription	K562	blood
5	chr2:128072600-128112000	Weak transcription	NHEK	skin
6	chr2:128077000-128116200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:128077200-128122800	Weak transcription	Aorta	Aorta
8	chr2:128078600-128109600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:128079800-128114600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:128082000-128114600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:128083600-128117000	Weak transcription	Brain Anterior Caudate	brain
12	chr2:128086600-128112000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:128090800-128112000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:128092600-128122000	Weak transcription	Pancreas	Pancrea
15	chr2:128092800-128109600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:128093200-128122800	Weak transcription	Fetal Kidney	kidney
17	chr2:128095600-128122000	Weak transcription	Brain Angular Gyrus	brain
18	chr2:128096400-128112000	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:128096400-128122200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:128096800-128117800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr2:128096800-128119600	Weak transcription	HSMM	muscle
22	chr2:128100000-128112000	Weak transcription	Fetal Lung	lung
23	chr2:128100200-128109600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:128100200-128110000	Weak transcription	Fetal Intestine Large	intestine
25	chr2:128100200-128119600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:128100400-128118400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:128100600-128119800	Weak transcription	NHDF-Ad	bronchial
28	chr2:128101600-128116400	Weak transcription	Fetal Thymus	thymus
29	chr2:128101600-128117800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:128102600-128122400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:128103600-128109800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr2:128103800-128111800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:128104600-128119400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:128105400-128109800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr2:128105600-128127400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr2:128106000-128109600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:128106400-128111800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:128106400-128111800	Weak transcription	A549	lung
39	chr2:128106400-128112200	Weak transcription	Dnd41	blood
40	chr2:128106400-128119200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:128106600-128111800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:128106600-128112000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:128106600-128112200	Weak transcription	Brain Substantia Nigra	brain
44	chr2:128107000-128112000	Weak transcription	Primary T cells from cord blood	blood
45	chr2:128107000-128122800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:128107200-128122800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:128107800-128109600	Weak transcription	Psoas Muscle	Psoas
48	chr2:128107800-128119400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:128107800-128140200	Weak transcription	Gastric	stomach
50	chr2:128108000-128109600	Weak transcription	Primary B cells from peripheral blood	blood

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