Variant report

Variant	rs11760595
Chromosome Location	chr7:100160109-100160110
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100142201..100145553-chr7:100159344..100161288,4	K562	blood:
2	chr7:100159179..100163772-chr7:100270408..100273972,8	MCF-7	breast:
3	chr7:100156986..100159057-chr7:100159059..100162046,2	MCF-7	breast:
4	chr7:100086603..100088649-chr7:100158252..100161070,2	K562	blood:
5	chr7:100154874..100158507-chr7:100159713..100161365,3	K562	blood:
6	chr7:100067056..100068774-chr7:100159541..100162040,2	K562	blood:
7	chr7:100065531..100068774-chr7:100159541..100162040,4	K562	blood:
8	chr7:100080963..100083770-chr7:100159070..100161021,2	MCF-7	breast:
9	chr7:100156184..100160431-chr7:100180126..100184186,4	MCF-7	breast:
10	chr7:100159589..100162211-chr7:100271268..100274081,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266372	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000166925	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000077454	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11761260	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap]
rs11765024	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11770880	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs11773620	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2686815	0.86[JPT][hapmap]
rs34183059	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs35257323	0.82[JPT][hapmap]
rs3807475	0.82[JPT][hapmap]
rs4727456	0.82[JPT][hapmap]
rs5015755	0.81[CHB][hapmap]
rs59120146	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73405382	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
3	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
4	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
5	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
6	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
8	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
9	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11760595	MOGAT3	cis	cerebellum	SCAN
rs11760595	ZSCAN21	cis	parietal	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100144200-100167000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:100145200-100167400	Weak transcription	HSMM	muscle
3	chr7:100146200-100165000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:100146600-100167200	Weak transcription	Fetal Heart	heart
5	chr7:100148600-100160400	Weak transcription	Fetal Lung	lung
6	chr7:100148600-100161800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:100148600-100165000	Weak transcription	Primary B cells from cord blood	blood
8	chr7:100151400-100161400	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:100151400-100167400	Weak transcription	Psoas Muscle	Psoas
10	chr7:100152000-100160400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:100152000-100160400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:100152000-100164600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:100152000-100165600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:100152000-100166000	Weak transcription	NHEK	skin
15	chr7:100153600-100160800	Weak transcription	NHLF	lung
16	chr7:100153600-100165000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:100154000-100164600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:100154000-100166800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:100154200-100161800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:100154400-100161800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:100154400-100165200	Weak transcription	A549	lung
22	chr7:100154400-100165600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:100154400-100165600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:100154400-100166200	Weak transcription	Small Intestine	intestine
25	chr7:100154400-100166600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:100154400-100167400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr7:100154400-100167400	Weak transcription	HMEC	breast
28	chr7:100154600-100164800	Weak transcription	NH-A	brain
29	chr7:100154600-100165200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:100154600-100173600	Weak transcription	HSMMtube	muscle
31	chr7:100154800-100163800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr7:100154800-100166200	Weak transcription	Left Ventricle	heart
33	chr7:100155000-100160600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:100155000-100167000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:100155000-100167200	Weak transcription	Osteobl	bone
36	chr7:100155200-100160600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:100155200-100161600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:100155600-100161400	Genic enhancers	Liver	Liver
39	chr7:100155800-100166600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:100156800-100161400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:100157000-100166800	Weak transcription	HUVEC	blood vessel
42	chr7:100157600-100161400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr7:100157600-100164200	Strong transcription	Fetal Intestine Small	intestine
44	chr7:100157800-100160400	Weak transcription	Brain Substantia Nigra	brain
45	chr7:100157800-100161400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr7:100157800-100161400	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr7:100157800-100161400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:100157800-100161400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr7:100157800-100161400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr7:100157800-100161600	Strong transcription	Fetal Stomach	stomach

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