Variant report

Variant	rs61991213
Chromosome Location	chr14:71796441-71796442
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	chr14:71785991..71787659-chr14:71794952..71796874,2	K562	blood:
2	chr14:71791240..71793345-chr14:71795264..71797079,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197555	Chromatin interaction

Extended variants
information (count: 169 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:167)

rs_ID	r²[population]
rs10483836	0.80[EUR][1000 genomes]
rs11620632	0.80[ASN][1000 genomes]
rs11627918	0.80[ASN][1000 genomes]
rs11845249	0.80[ASN][1000 genomes]
rs11849508	0.80[ASN][1000 genomes]
rs12127	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12878989	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12879243	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12880188	0.80[EUR][1000 genomes]
rs12880291	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12880611	0.87[EUR][1000 genomes]
rs12881643	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12881957	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12884929	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12887261	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12889866	0.87[EUR][1000 genomes]
rs12891975	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892512	0.80[EUR][1000 genomes]
rs12894016	0.86[EUR][1000 genomes]
rs12894478	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12896900	0.85[EUR][1000 genomes]
rs12896986	0.87[EUR][1000 genomes]
rs14030	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17178045	0.87[EUR][1000 genomes]
rs17178206	0.87[EUR][1000 genomes]
rs17178234	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17178387	0.85[EUR][1000 genomes]
rs17767386	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17767392	0.87[EUR][1000 genomes]
rs17767398	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17767410	0.88[EUR][1000 genomes]
rs17767446	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17767499	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17767523	0.87[EUR][1000 genomes]
rs17767553	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17767680	0.80[EUR][1000 genomes]
rs17767686	0.80[EUR][1000 genomes]
rs1990241	0.88[EUR][1000 genomes]
rs2108049	0.87[EUR][1000 genomes]
rs2108057	0.80[EUR][1000 genomes]
rs2108707	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2109276	0.87[EUR][1000 genomes]
rs2286409	0.81[AFR][1000 genomes]
rs2877729	0.86[EUR][1000 genomes]
rs33994051	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34011442	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34057981	0.86[EUR][1000 genomes]
rs34061264	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34169215	0.80[EUR][1000 genomes]
rs34176710	0.85[EUR][1000 genomes]
rs34281405	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34281934	0.88[EUR][1000 genomes]
rs34320622	0.87[EUR][1000 genomes]
rs34347034	0.86[EUR][1000 genomes]
rs34388001	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34454371	0.86[EUR][1000 genomes]
rs34469007	0.87[EUR][1000 genomes]
rs34480562	0.80[EUR][1000 genomes]
rs34524083	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34528013	0.87[EUR][1000 genomes]
rs34528131	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34533948	0.90[EUR][1000 genomes]
rs34649709	0.89[EUR][1000 genomes]
rs34674149	0.88[EUR][1000 genomes]
rs34725136	0.90[EUR][1000 genomes]
rs34746156	0.89[EUR][1000 genomes]
rs34748537	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34767050	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34873919	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34911660	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34957192	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34991781	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34993988	0.89[EUR][1000 genomes]
rs35051046	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35054229	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35094946	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35122644	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35151594	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35231795	0.80[EUR][1000 genomes]
rs35260692	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35415083	0.80[EUR][1000 genomes]
rs35468256	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35589413	0.84[EUR][1000 genomes]
rs35609708	0.85[EUR][1000 genomes]
rs35613269	0.87[EUR][1000 genomes]
rs35620527	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35621718	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35625243	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35680546	0.85[EUR][1000 genomes]
rs35692397	0.87[EUR][1000 genomes]
rs35760654	0.80[EUR][1000 genomes]
rs35796129	0.90[EUR][1000 genomes]
rs35822724	0.91[EUR][1000 genomes]
rs35831373	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35854505	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35866366	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35971049	0.80[EUR][1000 genomes]
rs36052007	0.85[EUR][1000 genomes]
rs36057816	0.87[EUR][1000 genomes]
rs36072220	0.81[EUR][1000 genomes]
rs36093218	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3784066	0.80[EUR][1000 genomes]
rs4453405	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4899394	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902928	0.84[ASN][1000 genomes]
rs4902938	0.80[EUR][1000 genomes]
rs55883127	0.80[EUR][1000 genomes]
rs56180634	0.82[EUR][1000 genomes]
rs56363446	0.87[EUR][1000 genomes]
rs56407721	0.89[EUR][1000 genomes]
rs59697713	0.80[ASN][1000 genomes]
rs61989245	0.80[ASN][1000 genomes]
rs61989246	0.80[ASN][1000 genomes]
rs61989247	0.80[ASN][1000 genomes]
rs61989250	0.80[ASN][1000 genomes]
rs61989257	0.80[ASN][1000 genomes]
rs61989367	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61989373	0.87[EUR][1000 genomes]
rs61989374	0.87[EUR][1000 genomes]
rs61989377	0.86[EUR][1000 genomes]
rs61989379	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61989382	0.85[EUR][1000 genomes]
rs61989383	0.80[EUR][1000 genomes]
rs61989386	0.85[EUR][1000 genomes]
rs61991192	0.84[ASN][1000 genomes]
rs61991199	0.89[EUR][1000 genomes]
rs61991200	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61991201	0.89[EUR][1000 genomes]
rs61991202	0.90[EUR][1000 genomes]
rs61991203	0.87[EUR][1000 genomes]
rs61991204	0.87[EUR][1000 genomes]
rs61991205	0.88[EUR][1000 genomes]
rs61991243	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61991246	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61991247	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61991248	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61991249	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61991250	0.89[EUR][1000 genomes]
rs61991254	0.83[EUR][1000 genomes]
rs61991255	0.87[EUR][1000 genomes]
rs66645707	0.85[EUR][1000 genomes]
rs67489015	0.89[EUR][1000 genomes]
rs68073803	0.90[EUR][1000 genomes]
rs7140354	0.87[EUR][1000 genomes]
rs7142180	0.87[EUR][1000 genomes]
rs7142214	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7145755	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7147434	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7147668	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7152674	0.80[EUR][1000 genomes]
rs7152842	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7156460	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7157241	0.80[EUR][1000 genomes]
rs7160460	0.80[ASN][1000 genomes]
rs722633	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs723966	0.87[EUR][1000 genomes]
rs725673	0.87[EUR][1000 genomes]
rs72726701	0.80[ASN][1000 genomes]
rs72726702	0.82[ASN][1000 genomes]
rs72728403	0.84[ASN][1000 genomes]
rs72728427	0.91[EUR][1000 genomes]
rs757850	0.80[EUR][1000 genomes]
rs8007068	0.91[EUR][1000 genomes]
rs8013161	0.82[EUR][1000 genomes]
rs8015644	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8019721	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9672060	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv1831401	chr14:71786411-71845264	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71788600-71811200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:71788600-71817000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:71789000-71800600	Weak transcription	Esophagus	oesophagus
4	chr14:71789200-71796800	Weak transcription	Fetal Intestine Small	intestine
5	chr14:71789200-71800400	Weak transcription	Aorta	Aorta
6	chr14:71789400-71802200	Weak transcription	Fetal Intestine Large	intestine
7	chr14:71789800-71797000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:71789800-71820000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:71790200-71798000	Weak transcription	Brain Angular Gyrus	brain
10	chr14:71791800-71806400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:71792000-71801800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:71792200-71800000	Weak transcription	Brain Hippocampus Middle	brain
13	chr14:71792200-71819400	Weak transcription	NHEK	skin
14	chr14:71792400-71800000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:71792400-71811800	Weak transcription	Fetal Kidney	kidney
16	chr14:71792600-71798200	Weak transcription	Small Intestine	intestine
17	chr14:71792600-71798600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr14:71792600-71798800	Weak transcription	Thymus	Thymus
19	chr14:71792800-71798200	Weak transcription	Adipose Nuclei	Adipose
20	chr14:71792800-71798200	Weak transcription	Brain Anterior Caudate	brain
21	chr14:71792800-71800000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr14:71792800-71800000	Weak transcription	Brain Substantia Nigra	brain
23	chr14:71792800-71803600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr14:71792800-71806600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:71792800-71811800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:71792800-71813000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:71792800-71820000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:71792800-71820000	Weak transcription	Pancreas	Pancrea
29	chr14:71793000-71810400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr14:71794800-71799400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:71794800-71799800	Weak transcription	Hela-S3	cervix
32	chr14:71794800-71816400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:71795000-71811400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr14:71795000-71821800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:71795200-71797000	Weak transcription	Spleen	Spleen
36	chr14:71795200-71798200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr14:71795200-71798200	Weak transcription	Stomach Mucosa	stomach
38	chr14:71795200-71802000	Weak transcription	HepG2	liver
39	chr14:71795200-71804200	Weak transcription	HMEC	breast
40	chr14:71795200-71811400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr14:71795200-71812800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:71795200-71819600	Weak transcription	HSMM	muscle
43	chr14:71795200-71820000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr14:71795200-71821600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:71795400-71796600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr14:71795400-71798200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr14:71795400-71798400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr14:71795400-71798800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr14:71795400-71799200	Weak transcription	Colon Smooth Muscle	Colon
50	chr14:71795400-71803000	Weak transcription	Duodenum Mucosa	Duodenum

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