Variant report

Variant	rs8011244
Chromosome Location	chr14:39616856-39616857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:39614921..39617347-chr14:39736328..39738748,2	MCF-7	breast:
2	chr14:39591967..39594442-chr14:39615758..39618049,2	MCF-7	breast:
3	chr14:39615859..39619392-chr14:39639334..39641256,3	MCF-7	breast:
4	chr14:39616786..39619391-chr14:39641245..39644143,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150527	Chromatin interaction
ENSG00000182400	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs12882909	0.80[EUR][1000 genomes]
rs12883114	0.91[CEU][hapmap];0.89[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs12896963	0.81[EUR][1000 genomes]
rs12897381	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12897593	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17616347	0.91[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs17617123	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17617289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17679493	0.95[CEU][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1884383	0.91[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs1950508	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs1980611	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1980612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1980613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2038359	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2038360	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2144527	0.87[CEU][hapmap];0.89[CHB][hapmap]
rs2273315	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2415533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2753596	0.94[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs28364834	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34328534	0.80[EUR][1000 genomes]
rs35006421	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35114880	0.96[ASN][1000 genomes]
rs35270180	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35395604	0.80[EUR][1000 genomes]
rs35412542	0.81[EUR][1000 genomes]
rs35502984	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35534904	0.81[EUR][1000 genomes]
rs35767652	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36057038	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55902358	0.81[EUR][1000 genomes]
rs55993688	0.81[EUR][1000 genomes]
rs57550673	0.81[EUR][1000 genomes]
rs59881143	0.81[EUR][1000 genomes]
rs60085216	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66488055	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67190795	0.81[EUR][1000 genomes]
rs67849341	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67968129	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7140282	0.91[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs7140321	0.96[ASN][1000 genomes]
rs7145712	0.80[EUR][1000 genomes]
rs7145856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7152392	0.80[EUR][1000 genomes]
rs715267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7157774	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72673356	0.82[ASN][1000 genomes]
rs8007240	0.91[CEU][hapmap];0.89[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs8008726	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8011494	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8020013	0.87[CEU][hapmap];0.89[CHB][hapmap]
rs8020321	0.91[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs8022864	0.82[ASN][1000 genomes]
rs9743466	0.81[EUR][1000 genomes]
rs9743749	0.81[EUR][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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39583800-39626000	Weak transcription	Spleen	Spleen
2	chr14:39584000-39623600	Weak transcription	Esophagus	oesophagus
3	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
4	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:39584400-39617200	Weak transcription	Psoas Muscle	Psoas
6	chr14:39584400-39620800	Weak transcription	Colonic Mucosa	Colon
7	chr14:39584400-39626600	Weak transcription	Aorta	Aorta
8	chr14:39584600-39625800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:39588600-39635400	Weak transcription	Fetal Brain Male	brain
10	chr14:39589200-39618000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:39589200-39626400	Weak transcription	Fetal Heart	heart
12	chr14:39592600-39622200	Weak transcription	Right Ventricle	heart
13	chr14:39592800-39618000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:39592800-39626600	Weak transcription	NHLF	lung
15	chr14:39594000-39620800	Weak transcription	Hela-S3	cervix
16	chr14:39596200-39621200	Weak transcription	Brain Substantia Nigra	brain
17	chr14:39598600-39618000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr14:39598800-39636200	Weak transcription	Stomach Mucosa	stomach
19	chr14:39603600-39617200	Weak transcription	Left Ventricle	heart
20	chr14:39604200-39617000	Weak transcription	NHDF-Ad	bronchial
21	chr14:39604400-39635400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr14:39604800-39622400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:39605200-39621200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:39605800-39625200	Weak transcription	HSMMtube	muscle
25	chr14:39606800-39621200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:39607000-39617200	Weak transcription	Colon Smooth Muscle	Colon
27	chr14:39607000-39617800	Weak transcription	HSMM	muscle
28	chr14:39607000-39621200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr14:39607000-39625400	Weak transcription	Fetal Kidney	kidney
30	chr14:39607200-39619400	Weak transcription	HMEC	breast
31	chr14:39607200-39623800	Weak transcription	Ovary	ovary
32	chr14:39607400-39617000	Weak transcription	Primary B cells from cord blood	blood
33	chr14:39607400-39617200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr14:39607600-39617200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:39607800-39617000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:39608000-39617200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr14:39608200-39617000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:39608200-39617000	Weak transcription	HUVEC	blood vessel
39	chr14:39608200-39617200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr14:39608200-39618000	Weak transcription	Brain Hippocampus Middle	brain
41	chr14:39608200-39620000	Weak transcription	Brain Angular Gyrus	brain
42	chr14:39608200-39622000	Weak transcription	Brain Anterior Caudate	brain
43	chr14:39608200-39630600	Weak transcription	NHEK	skin
44	chr14:39608400-39617000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr14:39608800-39617200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:39608800-39620000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr14:39609600-39617200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr14:39609600-39618200	Weak transcription	Osteobl	bone
49	chr14:39609800-39617200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr14:39610000-39617200	Weak transcription	Adipose Nuclei	Adipose

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