Variant report

Variant	rs11563641
Chromosome Location	chr7:126999456-126999457
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:126989599..126991125-chr7:126999110..127001691,2	K562	blood:
2	chr7:126994441..126996750-chr7:126997785..127000283,3	K562	blood:
3	chr7:126992206..126994276-chr7:126998893..127000633,3	K562	blood:
4	chr7:126999289..127001644-chr7:127001695..127003278,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224138	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10487480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10954149	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11563346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11563460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11563467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11563624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11563628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11563629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11563630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11563634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11563648	0.97[ASN][1000 genomes]
rs11563650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11563652	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12672573	1.00[CEU][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12706780	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706783	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12706784	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12706785	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13228039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13233168	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419398	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1419399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17862368	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17862369	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17863291	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17863295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17863297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17864195	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17865345	0.90[ASN][1000 genomes]
rs17867824	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17867840	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17867842	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027954	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2040500	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2269729	0.81[CHB][hapmap]
rs2402860	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3944151	0.97[ASN][1000 genomes]
rs4731350	0.90[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap];0.85[TSI][hapmap];1.00[ASN][1000 genomes]
rs6972420	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs71578227	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7781891	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796747	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7805194	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7805256	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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	nsv1017145	chr7:126995304-127015459	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11563641	ZNF800	cis	cerebellum	SCAN
rs11563641	ZNF800	cis	parietal	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126984400-127000800	Weak transcription	HSMMtube	muscle
2	chr7:126987800-127020600	Weak transcription	Spleen	Spleen
3	chr7:126988200-127001000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:126988400-126999800	Weak transcription	Primary T cells from cord blood	blood
5	chr7:126988400-127000000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:126988400-127000000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:126988400-127000000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:126988400-127000200	Weak transcription	Adipose Nuclei	Adipose
9	chr7:126988400-127000400	Weak transcription	Hela-S3	cervix
10	chr7:126988400-127000600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:126988400-127000600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:126988400-127000600	Weak transcription	Fetal Intestine Large	intestine
13	chr7:126988400-127000800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:126988400-127000800	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:126988400-127000800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:126988400-127000800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:126988400-127001000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:126988400-127001000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:126988400-127001000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:126988400-127001000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:126988400-127001000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:126988400-127001000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:126988400-127001000	Weak transcription	Aorta	Aorta
24	chr7:126988400-127001000	Weak transcription	Brain Angular Gyrus	brain
25	chr7:126988400-127001000	Weak transcription	Esophagus	oesophagus
26	chr7:126988400-127001000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:126988400-127001000	Weak transcription	Fetal Stomach	stomach
28	chr7:126988400-127001000	Weak transcription	Left Ventricle	heart
29	chr7:126988400-127001000	Weak transcription	Lung	lung
30	chr7:126988400-127001000	Weak transcription	Right Ventricle	heart
31	chr7:126988400-127001000	Weak transcription	Thymus	Thymus
32	chr7:126988400-127001000	Weak transcription	NH-A	brain
33	chr7:126988400-127001000	Weak transcription	NHLF	lung
34	chr7:126988400-127001200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:126988400-127002200	Weak transcription	Fetal Heart	heart
36	chr7:126988400-127004400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:126988400-127006400	Weak transcription	Psoas Muscle	Psoas
38	chr7:126988400-127012600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:126988400-127013000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:126988400-127013000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr7:126988400-127013200	Weak transcription	NHEK	skin
42	chr7:126988400-127013400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:126988400-127014000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr7:126988400-127030200	Weak transcription	Fetal Intestine Small	intestine
45	chr7:126988400-127031400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:126988400-127031400	Weak transcription	Colonic Mucosa	Colon
47	chr7:126988400-127031400	Weak transcription	Pancreas	Pancrea
48	chr7:126988600-127000000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr7:126988600-127000600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:126988600-127000800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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