Variant report

Variant	rs1998036
Chromosome Location	chr14:66138199-66138200
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:66136933..66139072-chr14:66142582..66145379,2	MCF-7	breast:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10483780	0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs10483785	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1054218	0.85[CEU][hapmap]
rs1075566	0.82[EUR][1000 genomes]
rs11158601	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11158602	0.82[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11158611	0.82[EUR][1000 genomes]
rs11621680	0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs11622014	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11622271	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11622829	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11624045	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11624104	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11625362	0.82[EUR][1000 genomes]
rs11625882	0.82[EUR][1000 genomes]
rs11627067	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11627084	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs11627184	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11627185	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11627578	0.82[EUR][1000 genomes]
rs11627605	0.82[EUR][1000 genomes]
rs11628765	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11628840	0.83[EUR][1000 genomes]
rs12050182	0.81[EUR][1000 genomes]
rs12050231	0.82[EUR][1000 genomes]
rs12586842	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12588838	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12879805	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12882200	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12883382	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12886334	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12887134	0.96[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12887673	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12887957	0.81[EUR][1000 genomes]
rs12888212	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12889002	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12890123	0.80[ASN][1000 genomes]
rs12890902	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12890978	0.83[CHB][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes]
rs12894034	0.82[EUR][1000 genomes]
rs12894466	0.82[EUR][1000 genomes]
rs12894902	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12896663	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1535173	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1958561	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2064694	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2149841	0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs2184603	0.80[EUR][1000 genomes]
rs2268961	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2268962	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2300865	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2411351	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2411355	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2411357	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2411404	0.82[EUR][1000 genomes]
rs2411405	0.82[EUR][1000 genomes]
rs2411816	0.81[EUR][1000 genomes]
rs35664643	0.80[AMR][1000 genomes]
rs3783709	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3825640	0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap]
rs4143898	0.92[CEU][hapmap]
rs4581615	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4902407	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4902415	0.83[EUR][1000 genomes]
rs4902416	0.82[EUR][1000 genomes]
rs6573624	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6573626	0.81[EUR][1000 genomes]
rs67957534	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7142165	0.81[EUR][1000 genomes]
rs7142219	0.80[EUR][1000 genomes]
rs7142651	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7146742	0.89[CEU][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7146829	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7149301	0.83[EUR][1000 genomes]
rs7153297	0.80[EUR][1000 genomes]
rs7155541	0.96[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7157449	0.82[EUR][1000 genomes]
rs7161123	1.00[CEU][hapmap];0.89[CHB][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs730807	0.82[EUR][1000 genomes]
rs743084	0.82[EUR][1000 genomes]
rs743085	0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7493004	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs761831	0.82[EUR][1000 genomes]
rs8005710	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8010876	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8012278	0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8018278	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs927004	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9796385	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription 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	35 gene(s)	inside rSNPs	diseases
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv902026	chr14:66061020-66171541	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66081400-66142200	Weak transcription	Thymus	Thymus
2	chr14:66090800-66145000	Weak transcription	Small Intestine	intestine
3	chr14:66092800-66141000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:66099200-66144000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr14:66100600-66160000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:66105000-66143400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:66105000-66149600	Weak transcription	Fetal Thymus	thymus
8	chr14:66105000-66157400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:66113400-66141400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:66125600-66138200	Weak transcription	NHLF	lung
11	chr14:66125600-66146600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:66125600-66157400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:66126400-66146800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:66126800-66153400	Weak transcription	Aorta	Aorta
15	chr14:66128200-66138600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:66129400-66143200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:66130400-66141800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr14:66130400-66146600	Weak transcription	Brain Angular Gyrus	brain
19	chr14:66130800-66141600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:66131000-66143400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr14:66131400-66141200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:66131800-66138400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:66132000-66138400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:66132400-66139600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:66133000-66140000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:66133400-66138600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:66133800-66138600	Weak transcription	Brain Anterior Caudate	brain
28	chr14:66134200-66153200	Weak transcription	Ovary	ovary
29	chr14:66134600-66141200	Weak transcription	Fetal Intestine Large	intestine
30	chr14:66134600-66141400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:66134600-66141400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr14:66134600-66141600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:66134600-66142000	Weak transcription	Adipose Nuclei	Adipose
34	chr14:66135000-66138400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr14:66135000-66140400	Strong transcription	Dnd41	blood
36	chr14:66135000-66140600	Strong transcription	Primary B cells from cord blood	blood
37	chr14:66135200-66139200	Strong transcription	Primary T cells from cord blood	blood
38	chr14:66135400-66140200	Strong transcription	GM12878-XiMat	blood
39	chr14:66135600-66139000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr14:66135600-66141000	Weak transcription	NH-A	brain
41	chr14:66135800-66140400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:66136000-66138200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:66136000-66143400	Weak transcription	NHDF-Ad	bronchial
44	chr14:66136200-66141200	Weak transcription	Left Ventricle	heart
45	chr14:66136200-66141800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:66136200-66155400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:66136400-66139000	Weak transcription	Brain Germinal Matrix	brain
48	chr14:66136400-66148600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr14:66136600-66139000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:66136800-66141200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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