Variant report

Variant	rs8004236
Chromosome Location	chr14:35737035-35737036
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35734999..35737663-chr14:35744257..35745770,2	MCF-7	breast:
2	chr14:35736271..35738491-chr14:35800943..35803870,2	MCF-7	breast:
3	chr14:35736632..35741307-chr14:35872574..35875942,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10047949	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10131625	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10132920	1.00[ASN][1000 genomes]
rs10134308	1.00[ASN][1000 genomes]
rs10136978	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137019	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10142846	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10144857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146133	0.85[ASN][1000 genomes]
rs10146691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10147645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10149823	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10498331	0.84[CEU][hapmap]
rs1064248	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11156874	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11844031	0.96[ASN][1000 genomes]
rs11845183	0.96[ASN][1000 genomes]
rs11845364	1.00[ASN][1000 genomes]
rs11848309	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11849461	0.96[ASN][1000 genomes]
rs11850487	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11851344	0.84[CEU][hapmap]
rs11851820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11852178	0.96[ASN][1000 genomes]
rs12100582	1.00[ASN][1000 genomes]
rs12100841	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12100980	1.00[ASN][1000 genomes]
rs12436351	0.96[ASN][1000 genomes]
rs12436663	0.84[CEU][hapmap]
rs12436672	0.84[CEU][hapmap]
rs17091807	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17103013	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17103033	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17103044	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17103047	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17103111	0.93[ASN][1000 genomes]
rs17103147	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17103166	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17386684	0.85[ASN][1000 genomes]
rs17456067	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1807162	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs1884715	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2005535	1.00[CHB][hapmap];0.89[YRI][hapmap]
rs2008130	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2145622	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2277459	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2277461	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2415258	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2415271	0.84[CEU][hapmap]
rs2415278	1.00[ASN][1000 genomes]
rs2415284	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28470932	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28504476	0.96[ASN][1000 genomes]
rs28505171	0.93[ASN][1000 genomes]
rs28595436	1.00[ASN][1000 genomes]
rs28665705	1.00[ASN][1000 genomes]
rs28708376	1.00[ASN][1000 genomes]
rs28736779	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2899832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34509212	0.85[ASN][1000 genomes]
rs4494460	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs55907319	1.00[ASN][1000 genomes]
rs58064181	0.96[ASN][1000 genomes]
rs60940685	0.96[ASN][1000 genomes]
rs62625039	0.85[ASN][1000 genomes]
rs6571694	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6571695	0.85[ASN][1000 genomes]
rs6571697	0.84[CEU][hapmap]
rs6571709	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7142115	0.84[YRI][hapmap]
rs7142246	0.84[CEU][hapmap]
rs7144806	0.84[CEU][hapmap]
rs7148424	1.00[ASN][1000 genomes]
rs7149602	1.00[ASN][1000 genomes]
rs7150725	0.84[CEU][hapmap]
rs7151250	0.84[CEU][hapmap]
rs7153807	1.00[ASN][1000 genomes]
rs7154292	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7154637	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155335	0.93[ASN][1000 genomes]
rs7155697	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7156770	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664840	0.85[ASN][1000 genomes]
rs72664843	0.85[ASN][1000 genomes]
rs72664854	0.85[ASN][1000 genomes]
rs72664855	0.85[ASN][1000 genomes]
rs73239026	0.96[ASN][1000 genomes]
rs73239030	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73239072	1.00[ASN][1000 genomes]
rs73239074	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240720	0.96[ASN][1000 genomes]
rs73240721	0.96[ASN][1000 genomes]
rs74043875	0.96[ASN][1000 genomes]
rs743226	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs743227	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7493705	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8005261	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8007575	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8007822	1.00[ASN][1000 genomes]
rs8009666	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8010905	1.00[ASN][1000 genomes]
rs8011195	0.85[ASN][1000 genomes]
rs8011549	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8014760	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8016140	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8019482	0.85[ASN][1000 genomes]
rs8019523	0.85[ASN][1000 genomes]
rs8019700	0.85[ASN][1000 genomes]
rs8019709	0.85[ASN][1000 genomes]
rs876996	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9646144	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv1044515	chr14:35510785-35756317	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
8	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
9	esv2754534	chr14:35690978-35744839	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1038396	chr14:35714499-35788189	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1045288	chr14:35735886-35788189	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35672000-35742200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:35684600-35760800	Weak transcription	HSMM	muscle
3	chr14:35700200-35738000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:35705400-35749800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:35706800-35760800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:35709800-35753600	Weak transcription	Small Intestine	intestine
7	chr14:35716600-35739200	Weak transcription	Adipose Nuclei	Adipose
8	chr14:35716800-35760600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:35716800-35761000	Weak transcription	Spleen	Spleen
10	chr14:35717000-35760800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr14:35717600-35753800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr14:35718200-35741000	Weak transcription	Fetal Lung	lung
13	chr14:35720000-35744800	Weak transcription	Fetal Brain Male	brain
14	chr14:35722000-35754000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr14:35722000-35760800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr14:35724200-35739000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr14:35724200-35756400	Weak transcription	Left Ventricle	heart
18	chr14:35724400-35742400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr14:35727200-35741800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:35727200-35742400	Weak transcription	Osteobl	bone
21	chr14:35727200-35742600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr14:35727200-35744200	Weak transcription	Fetal Heart	heart
23	chr14:35727200-35754600	Weak transcription	NHDF-Ad	bronchial
24	chr14:35727200-35756400	Weak transcription	Stomach Mucosa	stomach
25	chr14:35727200-35761000	Weak transcription	NHLF	lung
26	chr14:35727400-35739400	Weak transcription	NHEK	skin
27	chr14:35727400-35754000	Weak transcription	HUVEC	blood vessel
28	chr14:35727600-35742200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:35727600-35743400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr14:35728000-35750200	Weak transcription	Ovary	ovary
31	chr14:35728400-35743200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr14:35728400-35748400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr14:35728400-35754600	Weak transcription	K562	blood
34	chr14:35728400-35755000	Weak transcription	Colonic Mucosa	Colon
35	chr14:35729800-35739400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr14:35729800-35745400	Weak transcription	Brain Angular Gyrus	brain
37	chr14:35730000-35739000	Weak transcription	Pancreas	Pancrea
38	chr14:35730000-35739600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:35730000-35742600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:35730000-35747200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr14:35730000-35751000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:35730200-35742200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:35730200-35742600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:35730200-35760600	Weak transcription	Fetal Brain Female	brain
45	chr14:35730400-35739200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:35730400-35741400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr14:35730400-35742200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:35730400-35742200	Weak transcription	Thymus	Thymus
49	chr14:35730400-35747000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:35730400-35753400	Weak transcription	Primary B cells from peripheral blood	blood

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