Variant report

Variant	rs73066711
Chromosome Location	chr2:208871986-208871987
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	chr2:208870697..208873511-chr2:208873704..208876068,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10176919	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10189041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10195504	0.95[AFR][1000 genomes]
rs10200892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10209093	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10497889	0.95[AFR][1000 genomes]
rs11895970	0.95[AFR][1000 genomes]
rs11896789	0.95[AFR][1000 genomes]
rs13392361	0.88[AFR][1000 genomes]
rs13405165	0.92[AFR][1000 genomes]
rs13418213	0.95[AFR][1000 genomes]
rs13422017	0.95[AFR][1000 genomes]
rs13423906	0.95[AFR][1000 genomes]
rs16840280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2362781	0.90[AFR][1000 genomes]
rs59206831	0.90[AFR][1000 genomes]
rs59524824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6435400	0.90[AFR][1000 genomes]
rs6707468	0.90[AFR][1000 genomes]
rs6711353	0.90[AFR][1000 genomes]
rs6715281	0.95[AFR][1000 genomes]
rs73064902	0.96[AFR][1000 genomes]
rs73066707	0.96[AFR][1000 genomes]
rs73066710	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208836000-208878400	Weak transcription	Fetal Kidney	kidney
2	chr2:208854200-208889400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:208856600-208882000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:208857000-208877200	Weak transcription	Pancreas	Pancrea
5	chr2:208857200-208888000	Weak transcription	Fetal Brain Male	brain
6	chr2:208858800-208878600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:208861000-208874800	Weak transcription	Small Intestine	intestine
8	chr2:208862800-208872800	Weak transcription	HUVEC	blood vessel
9	chr2:208862800-208877400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:208865200-208889000	Weak transcription	Brain Substantia Nigra	brain
11	chr2:208865400-208878400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr2:208865400-208878800	Weak transcription	Brain Anterior Caudate	brain
13	chr2:208865600-208877800	Weak transcription	HepG2	liver
14	chr2:208865600-208878400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:208866000-208878200	Weak transcription	Lung	lung
16	chr2:208866200-208878200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:208866200-208882400	Weak transcription	Aorta	Aorta
18	chr2:208866400-208874800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:208866400-208875200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:208866400-208877200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr2:208866400-208877200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:208866400-208882000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:208866400-208888200	Weak transcription	Ovary	ovary
24	chr2:208866600-208875000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr2:208866600-208875000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:208866600-208875200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:208866600-208878200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:208866600-208888200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:208866600-208889000	Weak transcription	Fetal Stomach	stomach
30	chr2:208866600-208889600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:208866800-208874200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr2:208866800-208874200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr2:208866800-208874800	Weak transcription	Fetal Intestine Small	intestine
34	chr2:208866800-208875000	Weak transcription	Adipose Nuclei	Adipose
35	chr2:208866800-208875200	Weak transcription	Fetal Intestine Large	intestine
36	chr2:208866800-208877000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:208866800-208877200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:208866800-208877200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:208866800-208877200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:208866800-208882400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:208866800-208884400	Weak transcription	Primary B cells from cord blood	blood
42	chr2:208866800-208885000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:208866800-208887200	Weak transcription	Fetal Brain Female	brain
44	chr2:208866800-208888200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:208866800-208889400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:208867000-208878400	Weak transcription	Liver	Liver
47	chr2:208867000-208888200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr2:208867400-208875000	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:208867400-208875000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr2:208867400-208877200	Weak transcription	Rectal Mucosa Donor 29	rectum

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