Variant report

Variant	rs11761566
Chromosome Location	chr7:138249986-138249987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:138245855..138247730-chr7:138249211..138250756,2	K562	blood:
2	chr7:138144597..138147178-chr7:138247813..138250121,2	MCF-7	breast:
3	chr7:138143492..138146637-chr7:138248575..138251275,3	MCF-7	breast:
4	chr7:138145044..138147071-chr7:138248876..138251719,2	K562	blood:
5	chr7:138245855..138248023-chr7:138249211..138253236,3	K562	blood:

Variant related genes	Relation type
ENSG00000122779	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10236035	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10271000	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10272245	0.85[CEU][hapmap]
rs12707387	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12707388	1.00[CEU][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2353353	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs3213902	0.89[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.86[LWK][hapmap];0.90[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4535683	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6467774	0.85[CEU][hapmap]
rs6467777	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6467779	0.92[CEU][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6467781	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6946420	0.92[CEU][hapmap];0.92[GIH][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6962037	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6970145	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73164647	1.00[ASN][1000 genomes]
rs7782453	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7794786	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7799818	0.83[GIH][hapmap];0.90[MEX][hapmap]
rs7803989	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7811152	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11761566	ZC3HAV1L	cis	cerebellum	SCAN
rs11761566	UBN2	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138228400-138252600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:138235000-138257400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:138235800-138253000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:138235800-138253200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr7:138236000-138254200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:138236800-138250800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr7:138237000-138251200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
8	chr7:138237000-138251600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:138237000-138252400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr7:138237200-138252600	ZNF genes & repeats	Dnd41	blood
11	chr7:138237400-138251400	ZNF genes & repeats	Primary B cells from cord blood	blood
12	chr7:138238200-138251200	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr7:138238400-138250800	ZNF genes & repeats	Thymus	Thymus
14	chr7:138238400-138251400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:138238400-138251400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
16	chr7:138238400-138251400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
17	chr7:138238400-138253600	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr7:138238600-138251200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:138238600-138251600	ZNF genes & repeats	Brain Germinal Matrix	brain
20	chr7:138238600-138251800	ZNF genes & repeats	Fetal Muscle Leg	muscle
21	chr7:138238600-138252200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
22	chr7:138239200-138251000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr7:138239400-138251000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr7:138239400-138252600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
25	chr7:138239600-138250800	ZNF genes & repeats	Fetal Brain Female	brain
26	chr7:138241400-138251000	ZNF genes & repeats	Fetal Stomach	stomach
27	chr7:138241400-138251200	ZNF genes & repeats	Placenta	Placenta
28	chr7:138242600-138272400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:138242800-138251400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
30	chr7:138244400-138250000	Weak transcription	Psoas Muscle	Psoas
31	chr7:138244600-138251000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
32	chr7:138245200-138251000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
33	chr7:138246000-138251200	ZNF genes & repeats	Fetal Thymus	thymus
34	chr7:138246200-138250800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chr7:138246200-138250800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:138246200-138250800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:138246200-138250800	ZNF genes & repeats	Fetal Kidney	kidney
38	chr7:138246200-138251200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:138246200-138251200	ZNF genes & repeats	Lung	lung
40	chr7:138246200-138251200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
41	chr7:138246200-138251400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:138246200-138251600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
43	chr7:138246200-138252000	ZNF genes & repeats	Primary T cells from cord blood	blood
44	chr7:138246400-138250800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:138246600-138250600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:138246600-138251200	ZNF genes & repeats	Spleen	Spleen
47	chr7:138246800-138250800	ZNF genes & repeats	Pancreas	Pancrea
48	chr7:138246800-138251400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
49	chr7:138246800-138251400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr7:138246800-138251400	ZNF genes & repeats	GM12878-XiMat	blood

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