Variant report

Variant	rs11158034
Chromosome Location	chr14:55753560-55753561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:55753467-55754004	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:55747841..55751316-chr14:55753172..55757171,4	K562	blood:
2	chr14:55746310..55750691-chr14:55751454..55754283,3	MCF-7	breast:
3	chr14:55737035..55739484-chr14:55751324..55753806,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239686	TF binding region
ENSG00000258413	Chromatin interaction
ENSG00000178974	Chromatin interaction
ENSG00000239686	Chromatin interaction

Extended variants
information (count: 166 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:165)

rs_ID	r²[population]
rs10129505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10131562	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10131730	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[ASN][1000 genomes]
rs10131913	0.81[ASN][1000 genomes]
rs10132453	0.83[ASN][1000 genomes]
rs10134317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10134339	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs10136596	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs10137307	0.90[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs10139000	0.81[ASN][1000 genomes]
rs10139083	0.96[ASN][1000 genomes]
rs10139337	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10139678	0.81[ASN][1000 genomes]
rs10139683	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10140063	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10140869	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10141396	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10141483	0.81[ASN][1000 genomes]
rs10141552	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10142448	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10142547	0.81[ASN][1000 genomes]
rs10142803	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10143136	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10144418	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs10145203	0.95[ASN][1000 genomes]
rs10146637	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10147765	0.82[ASN][1000 genomes]
rs10150760	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1045002	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs1045004	0.95[JPT][hapmap];1.00[YRI][hapmap]
rs1109170	0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs11158037	0.83[ASN][1000 genomes]
rs11621265	0.95[JPT][hapmap];0.95[YRI][hapmap]
rs11622636	0.92[CEU][hapmap]
rs11625001	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11625423	0.94[ASN][1000 genomes]
rs11625968	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs11626751	0.81[ASN][1000 genomes]
rs11628437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11848456	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11848575	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11851169	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12050099	0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12050123	0.83[ASN][1000 genomes]
rs13379169	0.81[ASN][1000 genomes]
rs1572611	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs17253695	0.88[CEU][hapmap]
rs17672058	0.82[EUR][1000 genomes]
rs17672364	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs17674463	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17674563	0.82[ASN][1000 genomes]
rs17740551	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17740741	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17741542	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs17741831	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1972221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2016931	0.81[ASN][1000 genomes]
rs2026633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2094436	0.82[EUR][1000 genomes]
rs2147970	0.82[EUR][1000 genomes]
rs2209808	0.85[ASN][1000 genomes]
rs2296489	0.88[CEU][hapmap]
rs2297816	0.83[ASN][1000 genomes]
rs2340936	0.82[EUR][1000 genomes]
rs2341622	0.86[CHB][hapmap]
rs28428911	0.81[ASN][1000 genomes]
rs28430823	0.81[ASN][1000 genomes]
rs28452705	0.82[ASN][1000 genomes]
rs28493647	0.82[ASN][1000 genomes]
rs28504448	0.87[ASN][1000 genomes]
rs28612464	0.81[ASN][1000 genomes]
rs28660594	0.81[ASN][1000 genomes]
rs2880103	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35112084	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3742569	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3759667	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs3783648	0.81[ASN][1000 genomes]
rs3783649	0.82[ASN][1000 genomes]
rs3783650	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs3783651	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs3783652	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3825614	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs3825616	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs4040064	0.90[EUR][1000 genomes]
rs4366639	0.92[ASN][1000 genomes]
rs4496026	0.92[ASN][1000 genomes]
rs4525413	0.81[EUR][1000 genomes]
rs4580079	1.00[CEU][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4597235	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs56166765	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56949365	0.91[ASN][1000 genomes]
rs58260073	0.93[ASN][1000 genomes]
rs58269011	0.90[EUR][1000 genomes]
rs58296156	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58458194	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59629906	0.95[ASN][1000 genomes]
rs59871474	0.92[ASN][1000 genomes]
rs60248556	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs61210954	0.81[ASN][1000 genomes]
rs6573013	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs6573014	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs6573017	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs6573020	0.82[JPT][hapmap]
rs66464079	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66476033	0.82[EUR][1000 genomes]
rs66551709	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66696758	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs67008693	0.91[EUR][1000 genomes]
rs67092614	0.82[EUR][1000 genomes]
rs67215571	0.82[EUR][1000 genomes]
rs67386901	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67412516	0.82[ASN][1000 genomes]
rs67416413	0.91[EUR][1000 genomes]
rs67514154	0.95[ASN][1000 genomes]
rs67588230	0.82[EUR][1000 genomes]
rs67795323	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67822108	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67958555	0.82[EUR][1000 genomes]
rs68046603	0.96[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs68138420	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7140628	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7144737	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7146748	0.82[ASN][1000 genomes]
rs7147136	0.82[ASN][1000 genomes]
rs7147247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7148171	0.82[ASN][1000 genomes]
rs7150234	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7150763	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7151581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7151754	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7152390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7153110	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7153612	0.96[ASN][1000 genomes]
rs7153645	0.96[ASN][1000 genomes]
rs7154796	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7154831	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7154889	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs7155954	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157308	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7158768	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7158791	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7158861	0.92[ASN][1000 genomes]
rs7159144	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs7159824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7161439	0.82[ASN][1000 genomes]
rs72715769	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs72717738	0.82[ASN][1000 genomes]
rs73263927	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8003279	0.82[CEU][hapmap]
rs8005117	0.96[EUR][1000 genomes]
rs8005450	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8006525	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs8008119	0.82[ASN][1000 genomes]
rs8013027	0.86[JPT][hapmap]
rs8013713	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs8014477	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs8014540	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[ASN][1000 genomes]
rs8015211	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[ASN][1000 genomes]
rs8021583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs8023197	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs9323285	0.96[CEU][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap]
rs946059	0.86[JPT][hapmap]
rs9919923	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9919926	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9919932	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55739000-55755600	Weak transcription	Gastric	stomach
2	chr14:55739200-55768400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr14:55740000-55770600	Weak transcription	Colonic Mucosa	Colon
4	chr14:55740200-55754200	Weak transcription	Hela-S3	cervix
5	chr14:55741000-55764600	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:55741000-55773200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr14:55741200-55754000	Weak transcription	Fetal Brain Male	brain
8	chr14:55741800-55763800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:55741800-55763800	Weak transcription	NHEK	skin
10	chr14:55741800-55764600	Weak transcription	HMEC	breast
11	chr14:55742000-55765400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr14:55742200-55754000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr14:55742200-55754200	Weak transcription	Brain Hippocampus Middle	brain
14	chr14:55742200-55754600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:55742600-55754400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:55742800-55754200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:55744000-55767800	Weak transcription	K562	blood
18	chr14:55744800-55754600	Weak transcription	HepG2	liver
19	chr14:55744800-55757800	Weak transcription	Fetal Intestine Large	intestine
20	chr14:55744800-55764800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:55744800-55765400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:55744800-55767800	Weak transcription	Pancreas	Pancrea
23	chr14:55745000-55761000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:55745000-55764000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:55745000-55768400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr14:55745000-55774000	Weak transcription	Liver	Liver
27	chr14:55745200-55761000	Weak transcription	Thymus	Thymus
28	chr14:55745200-55764000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr14:55745200-55778400	Weak transcription	Fetal Thymus	thymus
30	chr14:55745400-55754400	Weak transcription	Brain Anterior Caudate	brain
31	chr14:55745400-55758400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:55745400-55759400	Weak transcription	Dnd41	blood
33	chr14:55745400-55764000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr14:55745600-55754000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr14:55745600-55754000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:55745600-55754400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:55745600-55761000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr14:55745600-55764200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:55745600-55764200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr14:55745600-55764400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr14:55745600-55769200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr14:55745800-55765400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr14:55745800-55765400	Weak transcription	Fetal Stomach	stomach
44	chr14:55746400-55754000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr14:55746800-55764000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr14:55747200-55760400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr14:55747400-55768400	Weak transcription	NHLF	lung
48	chr14:55748000-55759200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:55748000-55770000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr14:55748400-55759200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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