Variant report

Variant	rs1972221
Chromosome Location	chr14:55785381-55785382
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55775205..55778244-chr14:55782229..55785495,4	MCF-7	breast:
2	chr14:55784132..55786327-chr14:55792215..55794872,2	MCF-7	breast:

Extended variants
information (count: 156 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs10129505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10131562	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10131730	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10131913	0.82[ASN][1000 genomes]
rs10132453	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10134317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10134339	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs10136596	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs10137307	0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs10139000	0.82[ASN][1000 genomes]
rs10139083	0.98[ASN][1000 genomes]
rs10139337	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10139683	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10140063	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10140869	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10141396	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10141483	0.83[ASN][1000 genomes]
rs10141552	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10142448	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10142547	0.82[ASN][1000 genomes]
rs10142803	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10143136	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10144418	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[ASN][1000 genomes]
rs10145203	0.98[ASN][1000 genomes]
rs10146637	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10147765	0.83[ASN][1000 genomes]
rs10150760	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1045002	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[ASN][1000 genomes]
rs1045004	0.95[JPT][hapmap];0.85[YRI][hapmap]
rs1109170	0.86[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs11158034	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]
rs11158037	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11621089	0.83[EUR][1000 genomes]
rs11621265	0.95[JPT][hapmap]
rs11622636	0.92[CEU][hapmap]
rs11625001	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11625423	0.95[ASN][1000 genomes]
rs11625968	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs11626751	0.83[ASN][1000 genomes]
rs11628437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11848456	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11848575	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11851169	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12050099	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12050123	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1572611	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[ASN][1000 genomes]
rs17672364	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs17674463	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17674563	0.83[ASN][1000 genomes]
rs17675223	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17740551	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17740741	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17741542	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[ASN][1000 genomes]
rs17741831	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2016931	0.82[ASN][1000 genomes]
rs2026633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2209808	0.86[ASN][1000 genomes]
rs2296489	0.88[CEU][hapmap]
rs2297816	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2341622	0.86[CHB][hapmap]
rs28428911	0.82[ASN][1000 genomes]
rs28430823	0.83[ASN][1000 genomes]
rs28452705	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28493647	0.83[ASN][1000 genomes]
rs28504448	0.89[ASN][1000 genomes]
rs28568813	0.81[ASN][1000 genomes]
rs28612464	0.83[ASN][1000 genomes]
rs28660594	0.82[ASN][1000 genomes]
rs2880103	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35112084	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742569	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3759667	0.84[CEU][hapmap]
rs3783648	0.83[ASN][1000 genomes]
rs3783649	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[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];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3783652	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3825614	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs3825616	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs4040064	0.86[EUR][1000 genomes]
rs4366639	0.94[ASN][1000 genomes]
rs4496026	0.94[ASN][1000 genomes]
rs4580079	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4597235	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs56166765	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56949365	0.92[ASN][1000 genomes]
rs58260073	0.95[ASN][1000 genomes]
rs58269011	0.86[EUR][1000 genomes]
rs58296156	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58458194	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59629906	0.98[ASN][1000 genomes]
rs59871474	0.95[ASN][1000 genomes]
rs60248556	0.95[ASN][1000 genomes]
rs61210954	0.82[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	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66551709	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66696758	0.97[ASN][1000 genomes]
rs67008693	0.88[EUR][1000 genomes]
rs67386901	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67412516	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67416413	0.88[EUR][1000 genomes]
rs67514154	0.97[ASN][1000 genomes]
rs67795323	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67822108	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68046603	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs68138420	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140628	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7144737	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7147136	0.83[ASN][1000 genomes]
rs7147247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148171	0.82[ASN][1000 genomes]
rs7150234	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7150763	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7151581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7151754	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7152390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7153110	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7153612	0.98[ASN][1000 genomes]
rs7153645	0.98[ASN][1000 genomes]
rs7154796	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7154831	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[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];0.90[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7157308	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7158768	0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs7158791	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7158861	0.94[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];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7161439	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72715769	0.97[ASN][1000 genomes]
rs72717738	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73263927	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8003279	0.82[CEU][hapmap]
rs8005117	0.93[EUR][1000 genomes]
rs8005450	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8006525	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs8008119	0.83[ASN][1000 genomes]
rs8013027	0.86[JPT][hapmap]
rs8013713	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs8014477	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8014540	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8015211	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8021583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8022225	0.80[ASN][1000 genomes]
rs8023197	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs9323285	0.96[CEU][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs946059	0.86[JPT][hapmap]
rs9919923	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9919926	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[ASN][1000 genomes]
rs9919932	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55768800-55786400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:55776600-55786600	Weak transcription	Fetal Brain Male	brain
3	chr14:55777000-55792800	Weak transcription	Brain Angular Gyrus	brain
4	chr14:55777000-55795000	Weak transcription	NHDF-Ad	bronchial
5	chr14:55777200-55799000	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:55777400-55795000	Weak transcription	Osteobl	bone
7	chr14:55777400-55799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:55779200-55793800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:55779200-55798800	Weak transcription	K562	blood
10	chr14:55779200-55817600	Weak transcription	Hela-S3	cervix
11	chr14:55779600-55789200	Weak transcription	HUVEC	blood vessel
12	chr14:55779600-55795200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr14:55779600-55796800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:55779600-55796800	Weak transcription	Ovary	ovary
15	chr14:55779600-55797200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:55779600-55799600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:55779600-55801200	Weak transcription	Esophagus	oesophagus
18	chr14:55779800-55787200	Weak transcription	Placenta	Placenta
19	chr14:55779800-55794400	Weak transcription	HepG2	liver
20	chr14:55779800-55794800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:55779800-55795400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:55779800-55800800	Weak transcription	Adipose Nuclei	Adipose
23	chr14:55780000-55797200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr14:55780000-55797800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:55780200-55785600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:55780200-55790000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:55780200-55792600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:55780200-55793600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr14:55780200-55807800	Weak transcription	Thymus	Thymus
30	chr14:55780400-55790400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr14:55780400-55793600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr14:55780600-55787600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:55780600-55789200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr14:55780600-55792600	Weak transcription	Brain Hippocampus Middle	brain
35	chr14:55780600-55795200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:55780600-55796800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:55780600-55799000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr14:55780600-55800600	Weak transcription	NHEK	skin
39	chr14:55780600-55806200	Weak transcription	HMEC	breast
40	chr14:55780800-55799400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr14:55780800-55800800	Weak transcription	Lung	lung
42	chr14:55780800-55817200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr14:55781000-55785400	Weak transcription	Fetal Muscle Leg	muscle
44	chr14:55781400-55799600	Weak transcription	NH-A	brain
45	chr14:55781600-55787200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr14:55782000-55786000	Enhancers	Fetal Intestine Large	intestine
47	chr14:55782000-55786400	Enhancers	Fetal Intestine Small	intestine
48	chr14:55782000-55817200	Weak transcription	HSMM	muscle
49	chr14:55782200-55786000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:55782200-55792400	Weak transcription	Brain Anterior Caudate	brain

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