Variant report

Variant	rs11721653
Chromosome Location	chr4:88274597-88274598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:88274380..88275024-chr4:88386955..88387766,2	MCF-7	breast:
2	chr4:88274412..88275303-chr4:88464991..88465582,2	MCF-7	breast:
3	chr4:88274390..88275203-chr4:88387077..88388072,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11097131	0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes]
rs11097147	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11726577	0.90[EUR][1000 genomes]
rs11734257	1.00[CHB][hapmap]
rs11734330	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11737402	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11930147	0.98[EUR][1000 genomes]
rs11930151	0.98[EUR][1000 genomes]
rs11939415	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11946007	0.98[EUR][1000 genomes]
rs12505484	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3923434	1.00[CHB][hapmap]
rs55764266	0.88[EUR][1000 genomes]
rs55895035	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55932175	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56141705	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56258452	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs56284919	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56385009	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56390566	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56788263	0.97[EUR][1000 genomes]
rs58360495	0.93[EUR][1000 genomes]
rs60597105	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62305726	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs62305728	0.98[EUR][1000 genomes]
rs62305729	0.98[EUR][1000 genomes]
rs62305730	0.95[EUR][1000 genomes]
rs62305731	0.98[EUR][1000 genomes]
rs62305732	0.98[EUR][1000 genomes]
rs62305753	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62319084	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72652029	0.94[EUR][1000 genomes]
rs7664717	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7665549	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7667669	1.00[CHB][hapmap]
rs7668684	1.00[CHB][hapmap]
rs7671557	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs7674658	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs7690170	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870296	chr4:88173534-88295927	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats 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 miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv4412	chr4:88237813-88283368	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv3513966	chr4:88267269-88274737	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2559237	chr4:88267456-88274841	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3388226	chr4:88267578-88275176	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88253800-88274600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:88254800-88311800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:88255000-88292400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:88255200-88285600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr4:88255200-88293800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:88255800-88278200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:88256000-88274800	Weak transcription	A549	lung
8	chr4:88256200-88292800	Weak transcription	Gastric	stomach
9	chr4:88256200-88310600	Weak transcription	Right Ventricle	heart
10	chr4:88257000-88291000	Weak transcription	HUVEC	blood vessel
11	chr4:88257800-88311800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:88258000-88278000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:88258000-88285400	Weak transcription	Small Intestine	intestine
14	chr4:88259200-88277200	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:88259200-88283000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:88261000-88280000	Weak transcription	Left Ventricle	heart
17	chr4:88261000-88283200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:88261200-88285000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:88262200-88280200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:88263000-88274600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr4:88263000-88274600	Weak transcription	Colonic Mucosa	Colon
22	chr4:88263000-88277000	Weak transcription	Lung	lung
23	chr4:88263000-88277000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr4:88263000-88278000	Weak transcription	Stomach Mucosa	stomach
25	chr4:88263000-88280000	Weak transcription	Pancreas	Pancrea
26	chr4:88263200-88281600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr4:88263600-88274600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr4:88264000-88277000	Weak transcription	HSMM	muscle
29	chr4:88264200-88285600	Weak transcription	Spleen	Spleen
30	chr4:88264400-88279800	Weak transcription	Hela-S3	cervix
31	chr4:88266200-88285000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr4:88266400-88275000	Weak transcription	Aorta	Aorta
33	chr4:88266400-88278200	Weak transcription	Brain Angular Gyrus	brain
34	chr4:88266400-88292200	Weak transcription	Fetal Brain Male	brain
35	chr4:88266600-88275000	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:88266600-88275200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:88266600-88275200	Weak transcription	Fetal Muscle Leg	muscle
38	chr4:88266600-88278000	Weak transcription	Thymus	Thymus
39	chr4:88266600-88288200	Weak transcription	Brain Germinal Matrix	brain
40	chr4:88267200-88274600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr4:88267200-88281400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr4:88267400-88274600	Weak transcription	Adipose Nuclei	Adipose
43	chr4:88267400-88278000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr4:88267400-88278000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr4:88267400-88290600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr4:88267400-88308000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr4:88267600-88274600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:88267600-88277000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr4:88267600-88292400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr4:88267800-88274600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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