Variant report

Variant	rs10130571
Chromosome Location	chr14:31056876-31056877
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	chr14:31055032..31057154-chr14:31089293..31092128,2	MCF-7	breast:
2	chr14:31055576..31058014-chr14:31058559..31061042,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092108	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10129681	0.81[AMR][1000 genomes]
rs10132255	0.81[AMR][1000 genomes]
rs10132507	1.00[AMR][1000 genomes]
rs10135625	0.81[AMR][1000 genomes]
rs10135741	0.81[AMR][1000 genomes]
rs10140530	0.81[AMR][1000 genomes]
rs10141104	0.81[AMR][1000 genomes]
rs10141346	0.81[AMR][1000 genomes]
rs10141827	0.81[AMR][1000 genomes]
rs10142125	0.81[AMR][1000 genomes]
rs10142747	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143105	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148278	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148782	1.00[AMR][1000 genomes]
rs10151934	0.81[AMR][1000 genomes]
rs10152019	0.81[AMR][1000 genomes]
rs10152074	0.81[AMR][1000 genomes]
rs10220596	0.81[AMR][1000 genomes]
rs2157700	0.82[AMR][1000 genomes]
rs28440085	0.81[AMR][1000 genomes]
rs28495989	0.81[AMR][1000 genomes]
rs28542156	0.81[AMR][1000 genomes]
rs28649144	0.81[AMR][1000 genomes]
rs28649328	0.81[AMR][1000 genomes]
rs28721907	0.81[AMR][1000 genomes]
rs28798220	0.81[AMR][1000 genomes]
rs28860821	0.81[AMR][1000 genomes]
rs2889991	0.81[AMR][1000 genomes]
rs56250330	0.81[AMR][1000 genomes]
rs60108812	0.81[AMR][1000 genomes]
rs6571355	0.81[AMR][1000 genomes]
rs7144286	0.81[AMR][1000 genomes]
rs7149384	0.81[AMR][1000 genomes]
rs7150097	0.81[AMR][1000 genomes]
rs7154354	0.81[AMR][1000 genomes]
rs7156057	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7157203	0.81[AMR][1000 genomes]
rs7159972	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7359107	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74041103	0.81[AMR][1000 genomes]
rs74041112	0.81[AMR][1000 genomes]
rs74041117	0.81[AMR][1000 genomes]
rs74041128	0.81[AMR][1000 genomes]
rs8004508	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs8006594	0.81[AMR][1000 genomes]
rs8012029	0.81[AMR][1000 genomes]
rs8014497	0.81[AMR][1000 genomes]
rs8022976	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9806012	0.81[AMR][1000 genomes]
rs9944142	0.81[AMR][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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31029000-31071800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:31029200-31071800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:31029400-31059400	Weak transcription	Left Ventricle	heart
4	chr14:31029400-31060400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr14:31030400-31059200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:31032000-31067400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr14:31032400-31067200	Weak transcription	Fetal Stomach	stomach
8	chr14:31033800-31070000	Weak transcription	Lung	lung
9	chr14:31034000-31059200	Weak transcription	Fetal Lung	lung
10	chr14:31040200-31069800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:31040600-31057400	Weak transcription	Hela-S3	cervix
12	chr14:31043000-31079600	Weak transcription	Gastric	stomach
13	chr14:31043000-31090600	Weak transcription	Small Intestine	intestine
14	chr14:31045000-31070000	Weak transcription	Aorta	Aorta
15	chr14:31045800-31067400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:31046800-31069800	Weak transcription	Fetal Kidney	kidney
17	chr14:31047000-31058800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr14:31047000-31058800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr14:31047000-31059000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:31047000-31059000	Weak transcription	NH-A	brain
21	chr14:31047000-31069800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:31047000-31079600	Weak transcription	Pancreas	Pancrea
23	chr14:31047200-31059000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr14:31047200-31063600	Weak transcription	Fetal Intestine Small	intestine
25	chr14:31048600-31060800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:31049000-31060400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr14:31049600-31079600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:31050200-31079800	Weak transcription	Brain Angular Gyrus	brain
29	chr14:31050400-31059000	Weak transcription	Placenta	Placenta
30	chr14:31050600-31057400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:31050800-31067800	Weak transcription	Ovary	ovary
32	chr14:31051000-31059800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:31051000-31060600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:31051200-31057200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:31051800-31064600	Strong transcription	HSMM	muscle
36	chr14:31051800-31079600	Weak transcription	Fetal Brain Male	brain
37	chr14:31052000-31077400	Weak transcription	Psoas Muscle	Psoas
38	chr14:31052400-31060400	Weak transcription	NHLF	lung
39	chr14:31053600-31058600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr14:31053600-31079800	Weak transcription	Brain Substantia Nigra	brain
41	chr14:31053800-31057800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:31053800-31059200	Weak transcription	Primary T cells from cord blood	blood
43	chr14:31053800-31059400	Weak transcription	Fetal Muscle Leg	muscle
44	chr14:31053800-31059800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr14:31053800-31067600	Weak transcription	Brain Anterior Caudate	brain
46	chr14:31053800-31070200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr14:31053800-31090600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr14:31054000-31058800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:31054000-31060400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr14:31054200-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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