Variant report

Variant	rs12544138
Chromosome Location	chr8:107678043-107678044
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:107677870..107679876-chr8:107686793..107689768,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10086709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10087077	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10088694	0.85[CHB][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs10089357	0.87[EUR][1000 genomes]
rs10089618	0.85[EUR][1000 genomes]
rs10089890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10090534	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10091390	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[EUR][1000 genomes]
rs10091611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10092665	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10099361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10100839	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10101102	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10102112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104941	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[EUR][1000 genomes]
rs10106834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10108240	1.00[CEU][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs10110610	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs10283128	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10283130	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[EUR][1000 genomes]
rs1115200	0.88[CEU][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes]
rs12543558	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[EUR][1000 genomes]
rs12547372	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12547608	0.87[EUR][1000 genomes]
rs12548149	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13254031	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13255878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13259080	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[EUR][1000 genomes]
rs13268490	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16875002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875065	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16875066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1872282	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2035515	0.85[EUR][1000 genomes]
rs2126580	0.85[EUR][1000 genomes]
rs28422868	0.87[EUR][1000 genomes]
rs28808577	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28921372	0.86[EUR][1000 genomes]
rs28921395	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35108468	0.87[EUR][1000 genomes]
rs35499727	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35919651	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36011510	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3736179	0.87[EUR][1000 genomes]
rs3779996	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59316573	0.81[EUR][1000 genomes]
rs6651199	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7461484	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[EUR][1000 genomes]
rs9297385	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6342	chr8:107644092-107688898	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107670800-107685800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:107671200-107697200	Weak transcription	HSMM	muscle
3	chr8:107672200-107718800	Weak transcription	Psoas Muscle	Psoas
4	chr8:107672400-107685800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:107672400-107718600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:107672600-107678800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:107672600-107678800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:107672600-107679200	Weak transcription	Primary T cells from cord blood	blood
9	chr8:107672600-107679200	Weak transcription	NHEK	skin
10	chr8:107672600-107681200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:107672600-107682200	Weak transcription	Aorta	Aorta
12	chr8:107672600-107683600	Weak transcription	Hela-S3	cervix
13	chr8:107672600-107684400	Weak transcription	Fetal Intestine Small	intestine
14	chr8:107672600-107684800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:107672600-107686000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:107672600-107696000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:107672800-107680600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:107672800-107685800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr8:107672800-107696000	Weak transcription	Fetal Kidney	kidney
20	chr8:107673000-107680600	Weak transcription	Small Intestine	intestine
21	chr8:107673000-107684800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:107673200-107678800	Weak transcription	Right Ventricle	heart
23	chr8:107673400-107680000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:107674400-107678400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr8:107674400-107678600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:107674400-107682000	Weak transcription	Adipose Nuclei	Adipose
27	chr8:107674400-107685800	Weak transcription	Fetal Stomach	stomach
28	chr8:107674400-107696000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr8:107675000-107680600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:107676000-107678800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr8:107676200-107678800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:107676200-107685800	Weak transcription	Esophagus	oesophagus
33	chr8:107676200-107685800	Weak transcription	Gastric	stomach
34	chr8:107676200-107697400	Weak transcription	Left Ventricle	heart
35	chr8:107676400-107678400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr8:107676400-107678400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr8:107676400-107678800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr8:107676400-107678800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr8:107676400-107681600	Weak transcription	HepG2	liver
40	chr8:107676400-107682000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr8:107676400-107682200	Weak transcription	Right Atrium	heart
42	chr8:107676600-107678600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:107676600-107682200	Weak transcription	K562	blood
44	chr8:107676800-107678600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr8:107676800-107678800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:107676800-107680600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr8:107676800-107682600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:107677200-107678200	Enhancers	Liver	Liver
49	chr8:107677200-107679200	Enhancers	Colon Smooth Muscle	Colon
50	chr8:107677400-107678600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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