Variant report

Variant	rs8003077
Chromosome Location	chr14:64188593-64188594
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	chr14:64184690..64191125-chr14:64192176..64195844,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126821	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10498511	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs11158502	1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs11158503	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11158504	0.96[EUR][1000 genomes]
rs11158506	1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11844499	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11845405	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11845471	0.96[EUR][1000 genomes]
rs11845514	0.82[EUR][1000 genomes]
rs11845765	0.96[EUR][1000 genomes]
rs11846081	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11847188	1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs11847332	1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs11849082	0.96[EUR][1000 genomes]
rs12147926	0.87[EUR][1000 genomes]
rs17101346	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17101348	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17101355	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17101371	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs17101374	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2031940	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2031941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3742622	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4346121	1.00[EUR][1000 genomes]
rs55665448	0.91[EUR][1000 genomes]
rs55706628	0.91[EUR][1000 genomes]
rs55758170	0.82[EUR][1000 genomes]
rs55763522	0.87[EUR][1000 genomes]
rs55797516	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55874427	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55919053	0.96[EUR][1000 genomes]
rs56015314	0.91[EUR][1000 genomes]
rs56021364	0.82[EUR][1000 genomes]
rs56051693	0.96[EUR][1000 genomes]
rs56060943	0.82[EUR][1000 genomes]
rs56094435	0.91[EUR][1000 genomes]
rs56105514	0.96[EUR][1000 genomes]
rs56113838	0.91[EUR][1000 genomes]
rs56169803	0.82[EUR][1000 genomes]
rs56247501	0.91[EUR][1000 genomes]
rs56280069	0.96[EUR][1000 genomes]
rs56301550	0.82[EUR][1000 genomes]
rs56342043	0.91[EUR][1000 genomes]
rs56388534	0.96[EUR][1000 genomes]
rs56858295	0.91[EUR][1000 genomes]
rs56973820	0.91[EUR][1000 genomes]
rs61692440	0.87[EUR][1000 genomes]
rs61984031	0.82[EUR][1000 genomes]
rs61984033	0.82[EUR][1000 genomes]
rs61984036	0.82[EUR][1000 genomes]
rs61984045	0.82[EUR][1000 genomes]
rs61984046	0.82[EUR][1000 genomes]
rs61984048	0.82[EUR][1000 genomes]
rs61984051	0.87[EUR][1000 genomes]
rs61984055	0.82[EUR][1000 genomes]
rs61985669	0.91[EUR][1000 genomes]
rs61985670	0.91[EUR][1000 genomes]
rs61985671	0.91[EUR][1000 genomes]
rs61985672	0.91[EUR][1000 genomes]
rs61985674	0.87[EUR][1000 genomes]
rs61985677	0.91[EUR][1000 genomes]
rs61985680	0.91[EUR][1000 genomes]
rs61985681	0.91[EUR][1000 genomes]
rs61985682	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61985687	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61985689	0.91[EUR][1000 genomes]
rs61985690	0.91[EUR][1000 genomes]
rs61985691	0.82[EUR][1000 genomes]
rs6573528	0.91[EUR][1000 genomes]
rs6573529	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7141460	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs7142737	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7144490	1.00[CEU][hapmap]
rs7145740	1.00[CEU][hapmap]
rs7148755	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs7149625	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7154057	1.00[JPT][hapmap]
rs7154718	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs7154795	1.00[JPT][hapmap]
rs7154883	0.91[EUR][1000 genomes]
rs7155351	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7156219	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7156468	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7157815	1.00[EUR][1000 genomes]
rs73263634	0.91[EUR][1000 genomes]
rs73263671	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73263676	0.87[EUR][1000 genomes]
rs73265705	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73265719	0.96[EUR][1000 genomes]
rs73265743	0.96[EUR][1000 genomes]
rs73267621	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73267644	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8003101	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs8003314	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs8006901	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8010642	0.91[EUR][1000 genomes]
rs8012866	1.00[JPT][hapmap]
rs8013242	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8017282	0.87[EUR][1000 genomes]
rs8017835	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8018034	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8018194	0.87[EUR][1000 genomes]
rs8018382	0.91[EUR][1000 genomes]
rs8018872	0.91[EUR][1000 genomes]
rs8019280	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8020831	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8020833	0.91[EUR][1000 genomes]
rs8020893	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs9671362	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1048645	chr14:64057327-64283872	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1037824	chr14:64119493-64254025	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1044325	chr14:64142976-64201537	Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv3432445	chr14:64162248-64191918	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64130800-64192600	Weak transcription	Right Ventricle	heart
2	chr14:64145200-64192600	Weak transcription	HSMM	muscle
3	chr14:64179200-64192400	Weak transcription	Ovary	ovary
4	chr14:64180000-64192600	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:64180800-64190600	Weak transcription	Pancreas	Pancrea
6	chr14:64181000-64192200	Weak transcription	HUVEC	blood vessel
7	chr14:64181000-64192400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:64181200-64192600	Weak transcription	K562	blood
9	chr14:64181400-64190000	Weak transcription	Hela-S3	cervix
10	chr14:64182600-64192000	Weak transcription	NHLF	lung
11	chr14:64183000-64192600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr14:64184400-64190600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:64184800-64189800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr14:64184800-64190800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:64184800-64192400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:64185000-64190800	Weak transcription	Primary T cells from cord blood	blood
17	chr14:64185000-64192000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr14:64185000-64192000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:64185000-64192400	Weak transcription	Aorta	Aorta
20	chr14:64185000-64192600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:64185000-64193400	Weak transcription	Left Ventricle	heart
22	chr14:64185400-64189400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr14:64185400-64190800	Weak transcription	Brain Angular Gyrus	brain
24	chr14:64185400-64192000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:64185400-64192000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr14:64185400-64192200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:64185400-64192200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:64185400-64192200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr14:64185400-64192200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:64185400-64192400	Weak transcription	A549	lung
31	chr14:64185600-64192200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:64185600-64192200	Weak transcription	Adipose Nuclei	Adipose
33	chr14:64185600-64192400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr14:64185800-64192600	Weak transcription	Colonic Mucosa	Colon
35	chr14:64186000-64190400	Weak transcription	Brain Anterior Caudate	brain
36	chr14:64186200-64190800	Weak transcription	Primary B cells from cord blood	blood
37	chr14:64186200-64193400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr14:64186400-64192400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:64186400-64192800	Weak transcription	Fetal Muscle Leg	muscle
40	chr14:64186600-64190800	Weak transcription	Dnd41	blood
41	chr14:64186800-64189000	Strong transcription	Placenta	Placenta
42	chr14:64187000-64189600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:64187000-64192000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr14:64187000-64192400	Weak transcription	Fetal Brain Female	brain
45	chr14:64187000-64193800	Weak transcription	Lung	lung
46	chr14:64187200-64188800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr14:64187200-64190200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:64187200-64192200	Weak transcription	Liver	Liver
49	chr14:64187200-64192400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:64187200-64193200	Weak transcription	Fetal Intestine Small	intestine

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