Variant report

Variant	rs4595710
Chromosome Location	chr14:31806943-31806944
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	chr14:31674459..31678432-chr14:31805100..31811566,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092148	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10130574	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10132752	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10134212	0.95[EUR][1000 genomes]
rs10145767	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10147468	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10148707	0.87[ASN][1000 genomes]
rs10149123	0.95[EUR][1000 genomes]
rs11156668	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11627179	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11844036	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11850326	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12586712	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12883276	0.86[AMR][1000 genomes]
rs12885363	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12886557	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17097814	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2094131	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182256	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2378851	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2378852	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2378853	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2378857	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28396248	1.00[EUR][1000 genomes]
rs28505754	1.00[EUR][1000 genomes]
rs28738723	1.00[EUR][1000 genomes]
rs28791187	0.95[EUR][1000 genomes]
rs3736918	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3887865	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4981093	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4981838	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981840	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5025288	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6571408	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6571409	0.83[AMR][1000 genomes]
rs7149420	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7151153	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7151378	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7156569	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7158257	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7159084	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7160175	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7161078	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72642559	0.87[ASN][1000 genomes]
rs8007411	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8008358	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8012940	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8016487	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs942907	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31762800-31811800	Weak transcription	Fetal Heart	heart
2	chr14:31770000-31812600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:31772400-31825200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr14:31774600-31811200	Weak transcription	HUVEC	blood vessel
6	chr14:31782200-31813000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:31782200-31814000	Weak transcription	Fetal Kidney	kidney
8	chr14:31782200-31875200	Weak transcription	Gastric	stomach
9	chr14:31782400-31827000	Weak transcription	Aorta	Aorta
10	chr14:31787200-31809200	Weak transcription	NHLF	lung
11	chr14:31791200-31812600	Weak transcription	Colon Smooth Muscle	Colon
12	chr14:31796800-31808800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:31797000-31809000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:31798200-31807600	Strong transcription	Osteobl	bone
15	chr14:31799600-31827000	Weak transcription	Right Ventricle	heart
16	chr14:31799800-31808000	Weak transcription	Lung	lung
17	chr14:31799800-31811800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:31799800-31814400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr14:31799800-31815600	Weak transcription	Colonic Mucosa	Colon
20	chr14:31799800-31829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:31799800-31866800	Weak transcription	Esophagus	oesophagus
22	chr14:31800200-31839800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:31800400-31807400	Strong transcription	Adipose Nuclei	Adipose
24	chr14:31800400-31838200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:31800800-31812200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr14:31801000-31812000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr14:31801000-31812800	Weak transcription	HMEC	breast
28	chr14:31801200-31810200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:31801200-31812600	Weak transcription	Brain Angular Gyrus	brain
30	chr14:31801200-31823400	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr14:31801200-31883800	Weak transcription	Small Intestine	intestine
32	chr14:31801400-31862800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr14:31801400-31875600	Weak transcription	Brain Germinal Matrix	brain
34	chr14:31801600-31824000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr14:31801600-31872400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:31801800-31811600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr14:31801800-31824400	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr14:31801800-31862600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:31802400-31808600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr14:31802400-31825000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr14:31802400-31827200	Weak transcription	Brain Substantia Nigra	brain
42	chr14:31802400-31842800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:31802600-31807200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr14:31802600-31825000	Weak transcription	GM12878-XiMat	blood
45	chr14:31802800-31811600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr14:31802800-31872000	Weak transcription	Fetal Brain Male	brain
47	chr14:31803200-31811200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr14:31803200-31814200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr14:31803400-31809800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:31803400-31810600	Weak transcription	Fetal Intestine Small	intestine

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