Variant report

Variant	rs2051912
Chromosome Location	chr7:7647714-7647715
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	chr7:7645252..7648963-chr7:7651944..7654788,5	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1013002	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1016028	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10229961	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10276434	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11773679	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11976831	0.86[EUR][1000 genomes]
rs11983756	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12535954	0.82[EUR][1000 genomes]
rs2051910	1.00[EUR][1000 genomes]
rs2051913	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2051914	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2108063	0.95[EUR][1000 genomes]
rs2108064	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2108067	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2190247	0.91[EUR][1000 genomes]
rs2190248	0.86[EUR][1000 genomes]
rs2348265	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2348339	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2881888	0.82[CEU][hapmap]
rs2881890	0.95[EUR][1000 genomes]
rs3757532	1.00[CEU][hapmap]
rs4380838	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4720741	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4725005	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6463696	0.82[CEU][hapmap]
rs6463702	1.00[CEU][hapmap]
rs6463705	1.00[EUR][1000 genomes]
rs6463706	0.87[EUR][1000 genomes]
rs6946022	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs6946425	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6948157	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6957976	1.00[CEU][hapmap]
rs6958110	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6962939	0.82[CEU][hapmap]
rs6964397	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6974246	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7384200	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7783239	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7789187	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7789287	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7791344	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7791808	0.82[CEU][hapmap]
rs7796709	0.86[EUR][1000 genomes]
rs7801367	0.91[EUR][1000 genomes]
rs7805565	1.00[EUR][1000 genomes]
rs7806046	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7808788	0.86[EUR][1000 genomes]
rs7810367	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9640043	0.86[EUR][1000 genomes]
rs9640044	1.00[EUR][1000 genomes]
rs9640045	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs972600	0.86[EUR][1000 genomes]
rs974320	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	84 gene(s)	inside rSNPs	diseases
5	nsv887470	chr7:7310023-7655094	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv887474	chr7:7519603-7679644	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv887475	chr7:7519603-7679644	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv887476	chr7:7519603-7680697	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
14	nsv1034199	chr7:7617835-7691176	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7607200-7648400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:7607400-7648200	Weak transcription	Lung	lung
3	chr7:7607600-7648400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:7608200-7648800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:7608400-7648600	Weak transcription	NH-A	brain
6	chr7:7609400-7648400	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:7609400-7649000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:7609600-7649000	Weak transcription	Right Ventricle	heart
9	chr7:7609600-7650400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:7609600-7651000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:7609600-7652600	Weak transcription	Fetal Brain Male	brain
12	chr7:7609800-7648000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr7:7609800-7648800	Weak transcription	Brain Germinal Matrix	brain
14	chr7:7610600-7648200	Weak transcription	Pancreas	Pancrea
15	chr7:7610600-7654400	Weak transcription	Gastric	stomach
16	chr7:7611200-7652400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr7:7614000-7648600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:7617400-7649200	Weak transcription	Psoas Muscle	Psoas
19	chr7:7621600-7648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:7621600-7656400	Weak transcription	Aorta	Aorta
21	chr7:7622600-7650400	Weak transcription	HUVEC	blood vessel
22	chr7:7629200-7648000	Weak transcription	Small Intestine	intestine
23	chr7:7630000-7648600	Weak transcription	Brain Angular Gyrus	brain
24	chr7:7635000-7650000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:7636200-7648400	Weak transcription	NHEK	skin
26	chr7:7636200-7651400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr7:7636600-7652000	Weak transcription	Hela-S3	cervix
28	chr7:7636800-7648400	Weak transcription	Fetal Stomach	stomach
29	chr7:7637400-7649200	Weak transcription	Brain Substantia Nigra	brain
30	chr7:7637600-7648200	Weak transcription	HepG2	liver
31	chr7:7637600-7651400	Weak transcription	Thymus	Thymus
32	chr7:7637600-7658000	Weak transcription	Fetal Intestine Small	intestine
33	chr7:7638000-7648200	Weak transcription	Ovary	ovary
34	chr7:7638000-7651600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr7:7639600-7648400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:7639600-7649000	Weak transcription	Fetal Lung	lung
37	chr7:7639600-7649400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:7639600-7653800	Weak transcription	Fetal Heart	heart
39	chr7:7639600-7657200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr7:7639800-7648000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr7:7639800-7649000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:7639800-7649200	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:7639800-7651800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:7639800-7674600	Weak transcription	A549	lung
45	chr7:7640000-7648000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:7640000-7648200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:7640000-7650600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:7640000-7651000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:7645000-7647800	Strong transcription	GM12878-XiMat	blood
50	chr7:7645200-7648000	Strong transcription	Primary T cells from cord blood	blood

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