Variant report

Variant	rs193562
Chromosome Location	chr7:116811037-116811038
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:116810934..116811888-chr7:116842719..116843797,4	MCF-7	breast:
2	chr7:116764308..116765220-chr7:116810970..116811902,9	MCF-7	breast:
3	chr7:116810934..116811888-chr7:116842719..116843797,5	MCF-7	breast:
4	chr7:116805094..116807764-chr7:116809060..116811331,2	MCF-7	breast:
5	chr7:116764308..116765261-chr7:116810924..116811922,17	MCF-7	breast:
6	chr7:116807557..116811257-chr7:116811969..116815908,5	K562	blood:
7	chr7:116764216..116765330-chr7:116810998..116811966,11	MCF-7	breast:
8	chr7:116811007..116811834-chr7:116852794..116853748,2	MCF-7	breast:
9	chr7:116810950..116813600-chr7:116821490..116824139,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000004866	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10224047	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10224800	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10228205	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10235357	0.90[ASN][1000 genomes]
rs10253112	0.90[ASN][1000 genomes]
rs10258677	0.81[ASW][hapmap];0.81[JPT][hapmap]
rs10260273	0.91[ASN][1000 genomes]
rs10260934	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10262380	1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs10269684	0.82[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10270156	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10270160	0.90[ASN][1000 genomes]
rs10278192	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10280789	0.90[ASN][1000 genomes]
rs10487358	0.82[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.90[TSI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12333554	1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs12333994	1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs12670227	1.00[ASN][1000 genomes]
rs12671521	0.90[ASN][1000 genomes]
rs153015	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs153016	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17139387	1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs17139390	1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs171552	0.94[ASN][1000 genomes]
rs171553	1.00[ASN][1000 genomes]
rs173496	1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs185187	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.99[ASN][1000 genomes]
rs192238	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs193555	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[ASN][1000 genomes]
rs193556	0.99[ASN][1000 genomes]
rs193557	1.00[ASN][1000 genomes]
rs193559	1.00[ASN][1000 genomes]
rs193560	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs193561	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs193563	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs193564	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs193565	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs193566	1.00[ASN][1000 genomes]
rs193567	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.99[ASN][1000 genomes]
rs193568	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs193569	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs193570	1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap];0.99[ASN][1000 genomes]
rs2188692	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs2214167	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2402154	0.91[ASN][1000 genomes]
rs2402155	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs2402156	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs2402157	1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs2402158	1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs2402159	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs28481622	1.00[ASN][1000 genomes]
rs28626669	1.00[ASN][1000 genomes]
rs3808215	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3824031	0.99[ASN][1000 genomes]
rs38861	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs38862	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs38863	0.99[ASN][1000 genomes]
rs38864	0.99[ASN][1000 genomes]
rs38865	0.99[ASN][1000 genomes]
rs38866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs38867	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs38868	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs38869	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs38870	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs38871	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs38872	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs38873	0.99[ASN][1000 genomes]
rs38874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs38875	0.88[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs38876	0.99[ASN][1000 genomes]
rs38877	0.99[ASN][1000 genomes]
rs38878	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs38879	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs38880	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs38881	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs38882	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs38883	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.99[ASN][1000 genomes]
rs38884	0.99[ASN][1000 genomes]
rs38885	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs38886	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs38887	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs38888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs38889	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs467	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[ASN][1000 genomes]
rs57238791	0.91[ASN][1000 genomes]
rs57518803	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57609520	0.94[ASN][1000 genomes]
rs57778199	0.94[ASN][1000 genomes]
rs60653618	0.99[ASN][1000 genomes]
rs60877331	0.81[EUR][1000 genomes]
rs66535855	0.94[ASN][1000 genomes]
rs66668879	0.90[ASN][1000 genomes]
rs67039230	0.90[ASN][1000 genomes]
rs67452319	0.91[ASN][1000 genomes]
rs68189831	0.89[ASN][1000 genomes]
rs6966117	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6976661	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71564582	0.81[EUR][1000 genomes]
rs73211938	0.81[EUR][1000 genomes]
rs739556	1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs7806551	0.82[EUR][1000 genomes]
rs9784960	0.91[ASN][1000 genomes]
rs9785047	0.91[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	nsv831108	chr7:116749534-116952011	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116776400-116830200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:116779600-116811200	Weak transcription	Fetal Brain Female	brain
3	chr7:116785200-116856600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:116787200-116830200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:116787400-116834000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:116793200-116811400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:116793400-116830600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:116793800-116811200	Weak transcription	HepG2	liver
9	chr7:116795400-116812200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:116795600-116814600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:116795600-116830200	Weak transcription	Fetal Intestine Small	intestine
12	chr7:116796000-116811200	Weak transcription	Fetal Intestine Large	intestine
13	chr7:116796800-116829400	Weak transcription	Fetal Brain Male	brain
14	chr7:116798000-116811200	Weak transcription	Lung	lung
15	chr7:116798000-116811200	Weak transcription	Ovary	ovary
16	chr7:116798000-116811200	Weak transcription	K562	blood
17	chr7:116798000-116829800	Weak transcription	Gastric	stomach
18	chr7:116798000-116850000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:116798200-116811200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:116798200-116813200	Weak transcription	Aorta	Aorta
21	chr7:116798200-116866600	Weak transcription	HMEC	breast
22	chr7:116798400-116849800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:116798600-116811200	Weak transcription	Right Ventricle	heart
24	chr7:116798600-116812000	Weak transcription	Fetal Stomach	stomach
25	chr7:116798600-116830000	Weak transcription	Brain Angular Gyrus	brain
26	chr7:116798800-116811200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr7:116798800-116811200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:116798800-116811200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:116799000-116811200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:116799000-116812600	Weak transcription	Brain Anterior Caudate	brain
31	chr7:116799200-116811200	Weak transcription	HSMMtube	muscle
32	chr7:116799200-116813600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:116800200-116830000	Weak transcription	Colon Smooth Muscle	Colon
34	chr7:116801200-116811200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:116802400-116816400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr7:116805000-116813400	Weak transcription	Esophagus	oesophagus
37	chr7:116805200-116811200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:116805200-116811200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:116805200-116813400	Weak transcription	NHLF	lung
40	chr7:116805200-116816000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:116805200-116830000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:116805200-116850000	Weak transcription	Psoas Muscle	Psoas
43	chr7:116805400-116811200	Weak transcription	Adipose Nuclei	Adipose
44	chr7:116805400-116812200	Weak transcription	Osteobl	bone
45	chr7:116805400-116826200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:116806000-116811200	Weak transcription	Left Ventricle	heart
47	chr7:116806600-116820600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr7:116807600-116857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:116808400-116815000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr7:116808400-116871800	Weak transcription	Rectal Smooth Muscle	rectum

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