Variant report

Variant	rs2048617
Chromosome Location	chr12:123905185-123905186
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123884955..123886643-chr12:123903886..123905556,2	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10734902	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10744152	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10744153	0.85[ASN][1000 genomes]
rs10744154	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10773018	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10846517	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10846519	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10846523	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11057283	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11057287	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11612234	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11613711	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28414347	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28417583	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28418709	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28501453	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28517382	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28537583	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28546238	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28587386	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28594416	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28595660	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28602967	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28611282	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28613486	0.87[ASN][1000 genomes]
rs28627651	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28631903	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28681105	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28703745	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28706693	0.82[ASN][1000 genomes]
rs28718696	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28759130	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28865692	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28885203	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3803001	0.83[ASN][1000 genomes]
rs3825141	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4759374	0.83[ASN][1000 genomes]
rs4759376	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4759421	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57356592	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57416942	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57801345	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58491161	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58537268	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58948739	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59295450	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60755632	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61058270	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61751327	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6488869	0.85[ASN][1000 genomes]
rs6488870	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6488871	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6488872	0.85[ASN][1000 genomes]
rs7137243	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7297649	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7301163	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7310756	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7311304	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73216937	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7484644	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7485967	0.85[ASN][1000 genomes]
rs7486223	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7488340	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7952835	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7955367	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7959415	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7970080	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7971557	0.80[ASN][1000 genomes]
rs7973131	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7973878	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7977563	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9284166	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9300256	0.82[ASN][1000 genomes]
rs9300257	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9300259	0.84[ASN][1000 genomes]
rs9669169	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9739565	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9795593	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]

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	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123882000-123911600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:123889600-123917000	Weak transcription	K562	blood
3	chr12:123890800-123917200	Weak transcription	Fetal Kidney	kidney
4	chr12:123891200-123920400	Weak transcription	Psoas Muscle	Psoas
5	chr12:123891400-123908600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:123891600-123919800	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:123891600-123920000	Weak transcription	Small Intestine	intestine
8	chr12:123892000-123911400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:123892200-123905200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:123892200-123905200	Weak transcription	Brain Angular Gyrus	brain
11	chr12:123892200-123905200	Weak transcription	HMEC	breast
12	chr12:123892200-123910000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:123892200-123916800	Weak transcription	NHEK	skin
14	chr12:123892200-123920200	Weak transcription	NH-A	brain
15	chr12:123892600-123907000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:123892800-123920000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:123893400-123905200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:123893400-123918200	Weak transcription	Hela-S3	cervix
19	chr12:123893600-123905200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:123893600-123905200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:123893800-123905200	Weak transcription	Gastric	stomach
22	chr12:123893800-123908200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:123893800-123909600	Weak transcription	Brain Germinal Matrix	brain
24	chr12:123894000-123907800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:123894000-123920600	Weak transcription	HSMMtube	muscle
26	chr12:123894200-123905200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:123894200-123905400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:123894200-123908000	Weak transcription	Fetal Intestine Large	intestine
29	chr12:123894200-123911600	Weak transcription	Esophagus	oesophagus
30	chr12:123894200-123917000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:123894200-123917000	Weak transcription	HUVEC	blood vessel
32	chr12:123894400-123905200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:123894400-123905200	Weak transcription	Osteobl	bone
34	chr12:123894400-123907000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:123894800-123908200	Weak transcription	Fetal Intestine Small	intestine
36	chr12:123894800-123911600	Weak transcription	Colonic Mucosa	Colon
37	chr12:123894800-123920000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:123895000-123905200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:123895000-123905800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:123895000-123907200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:123895200-123905200	Weak transcription	Right Ventricle	heart
42	chr12:123895200-123905400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr12:123895200-123905800	Weak transcription	NHDF-Ad	bronchial
44	chr12:123895200-123907000	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:123895200-123911600	Weak transcription	Fetal Lung	lung
46	chr12:123895200-123918200	Weak transcription	Pancreas	Pancrea
47	chr12:123895200-123920000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:123895200-123920000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr12:123895200-123920000	Weak transcription	HSMM	muscle
50	chr12:123895200-123920000	Weak transcription	NHLF	lung

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