Variant report

Variant	rs2081054
Chromosome Location	chr19:21203552-21203553
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21203269..21205162-chr19:21263863..21266449,2	MCF-7	breast:
2	chr19:21203226..21204874-chr19:21207837..21209473,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271598	Chromatin interaction
ENSG00000160352	Chromatin interaction

Extended variants
information (count: 137 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10164375	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10401931	1.00[JPT][hapmap]
rs10406661	1.00[JPT][hapmap]
rs10408496	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs10409844	0.82[ASN][1000 genomes]
rs10409877	1.00[JPT][hapmap]
rs10410901	1.00[CEU][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10412267	1.00[JPT][hapmap]
rs10412509	0.94[JPT][hapmap]
rs10412688	0.92[ASN][1000 genomes]
rs10413692	0.92[ASN][1000 genomes]
rs10414134	0.90[AMR][1000 genomes]
rs10417165	0.94[ASN][1000 genomes]
rs10418706	0.98[ASN][1000 genomes]
rs10421392	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10421819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10422193	0.89[ASN][1000 genomes]
rs10423541	1.00[JPT][hapmap]
rs10425969	0.82[ASN][1000 genomes]
rs10854042	1.00[CEU][hapmap]
rs11085424	0.94[ASN][1000 genomes]
rs11085431	1.00[JPT][hapmap]
rs11666640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11671894	0.94[ASN][1000 genomes]
rs11672142	0.82[ASN][1000 genomes]
rs11672727	1.00[JPT][hapmap]
rs11672747	1.00[JPT][hapmap]
rs11878599	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12104387	1.00[ASN][1000 genomes]
rs12608931	0.93[ASN][1000 genomes]
rs12609005	0.82[ASN][1000 genomes]
rs12609167	0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs12609510	0.94[ASN][1000 genomes]
rs12609831	0.94[ASN][1000 genomes]
rs12611115	0.92[ASN][1000 genomes]
rs12973921	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12975789	0.94[ASN][1000 genomes]
rs12976796	0.98[ASN][1000 genomes]
rs12981855	0.81[ASN][1000 genomes]
rs1470021	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1470022	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1609441	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1968523	1.00[JPT][hapmap]
rs2013048	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2081050	0.92[ASN][1000 genomes]
rs2081052	0.87[ASN][1000 genomes]
rs2081055	0.93[ASN][1000 genomes]
rs2081056	0.93[ASN][1000 genomes]
rs2081057	1.00[ASN][1000 genomes]
rs2098681	0.95[ASN][1000 genomes]
rs2099648	0.98[ASN][1000 genomes]
rs2112803	0.93[ASN][1000 genomes]
rs2115493	1.00[JPT][hapmap]
rs2115494	1.00[JPT][hapmap]
rs2115495	1.00[JPT][hapmap]
rs2115496	0.94[JPT][hapmap]
rs2164988	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2164989	0.82[ASN][1000 genomes]
rs2195453	1.00[JPT][hapmap]
rs2195454	1.00[JPT][hapmap]
rs2358792	0.95[ASN][1000 genomes]
rs2358795	0.94[ASN][1000 genomes]
rs2358804	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2884548	1.00[ASN][1000 genomes]
rs2884554	1.00[JPT][hapmap]
rs388229	1.00[CEU][hapmap]
rs4255903	1.00[ASN][1000 genomes]
rs4292035	0.97[ASN][1000 genomes]
rs4365405	0.92[ASN][1000 genomes]
rs4488591	1.00[JPT][hapmap]
rs4808273	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4809122	1.00[JPT][hapmap]
rs62122564	0.93[ASN][1000 genomes]
rs62122565	0.93[ASN][1000 genomes]
rs6511175	0.90[ASN][1000 genomes]
rs6511179	0.91[ASN][1000 genomes]
rs6511181	0.92[ASN][1000 genomes]
rs6511183	0.82[ASN][1000 genomes]
rs6511184	0.82[ASN][1000 genomes]
rs6511188	1.00[JPT][hapmap]
rs6511191	1.00[JPT][hapmap]
rs6511192	1.00[JPT][hapmap]
rs6511194	0.94[JPT][hapmap]
rs6511195	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6511196	1.00[JPT][hapmap]
rs6511198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6511200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6511206	1.00[CEU][hapmap]
rs7246723	1.00[JPT][hapmap]
rs7247413	0.94[ASN][1000 genomes]
rs7247553	0.98[ASN][1000 genomes]
rs7248087	0.95[ASN][1000 genomes]
rs7249283	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7249736	1.00[JPT][hapmap]
rs7250987	1.00[CEU][hapmap]
rs7251158	1.00[CEU][hapmap]
rs7251646	1.00[CEU][hapmap]
rs7252277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7253530	0.94[ASN][1000 genomes]
rs7254047	1.00[JPT][hapmap]
rs7254053	1.00[JPT][hapmap]
rs7254722	0.91[ASN][1000 genomes]
rs7254768	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7256576	1.00[CEU][hapmap]
rs7258477	1.00[ASN][1000 genomes]
rs7258831	0.85[ASN][1000 genomes]
rs7259653	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7260268	1.00[JPT][hapmap]
rs7260600	1.00[JPT][hapmap]
rs8102966	1.00[ASN][1000 genomes]
rs8103696	0.94[ASN][1000 genomes]
rs8106801	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8106923	1.00[JPT][hapmap]
rs8107638	1.00[JPT][hapmap]
rs8107982	0.82[ASN][1000 genomes]
rs8109577	0.85[ASN][1000 genomes]
rs8111827	1.00[JPT][hapmap]
rs8112054	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs8112216	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs8113541	1.00[JPT][hapmap]
rs8182465	1.00[JPT][hapmap]
rs9304980	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9304981	0.93[JPT][hapmap]
rs9304982	1.00[JPT][hapmap]
rs9941463	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9967619	0.82[JPT][hapmap]

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	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription 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	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv911411	chr19:21184533-21263518	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv578949	chr19:21190572-21244049	ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	esv3387197	chr19:21201612-21203810	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
11	esv3407422	chr19:21201712-21203910	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21202800-21204200	Active TSS	Duodenum Mucosa	Duodenum
2	chr19:21202800-21204400	Active TSS	Brain Angular Gyrus	brain
3	chr19:21202800-21204600	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr19:21202800-21204800	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr19:21202800-21204800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr19:21202800-21204800	Active TSS	Stomach Smooth Muscle	stomach
7	chr19:21203000-21203600	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr19:21203000-21203800	Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr19:21203000-21203800	Active TSS	Monocytes-CD14+_RO01746	blood
10	chr19:21203000-21204000	Active TSS	Primary B cells from cord blood	blood
11	chr19:21203000-21204000	Active TSS	Primary B cells from peripheral blood	blood
12	chr19:21203000-21204000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr19:21203000-21204000	Active TSS	Placenta	Placenta
14	chr19:21203000-21204000	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr19:21203000-21204200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr19:21203000-21204200	Active TSS	Primary hematopoietic stem cells	blood
17	chr19:21203000-21204200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:21203000-21204200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:21203000-21204200	Active TSS	Adipose Nuclei	Adipose
20	chr19:21203000-21204200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr19:21203000-21204200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr19:21203000-21204200	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr19:21203000-21204200	Active TSS	HUVEC	blood vessel
24	chr19:21203000-21204400	Active TSS	Primary T cells from cord blood	blood
25	chr19:21203000-21204400	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr19:21203000-21204400	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr19:21203000-21204400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:21203000-21204400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr19:21203000-21204400	Active TSS	Aorta	Aorta
30	chr19:21203000-21204400	Active TSS	Brain Substantia Nigra	brain
31	chr19:21203000-21204400	Active TSS	Colonic Mucosa	Colon
32	chr19:21203000-21204400	Active TSS	Colon Smooth Muscle	Colon
33	chr19:21203000-21204400	Active TSS	Esophagus	oesophagus
34	chr19:21203000-21204400	Active TSS	Fetal Brain Male	brain
35	chr19:21203000-21204400	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr19:21203000-21204400	Active TSS	Fetal Muscle Trunk	muscle
37	chr19:21203000-21204400	Active TSS	Fetal Stomach	stomach
38	chr19:21203000-21204400	Active TSS	Left Ventricle	heart
39	chr19:21203000-21204400	Active TSS	Pancreas	Pancrea
40	chr19:21203000-21204400	Active TSS	Psoas Muscle	Psoas
41	chr19:21203000-21204400	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr19:21203000-21204400	Active TSS	Rectal Smooth Muscle	rectum
43	chr19:21203000-21204400	Active TSS	Right Ventricle	heart
44	chr19:21203000-21204400	Active TSS	NHEK	skin
45	chr19:21203000-21204600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr19:21203000-21204600	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr19:21203000-21204600	Active TSS	Brain Cingulate Gyrus	brain
48	chr19:21203000-21204600	Active TSS	Brain Hippocampus Middle	brain
49	chr19:21203000-21204600	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr19:21203000-21204600	Active TSS	Fetal Intestine Large	intestine

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