Variant report

Variant	rs7105709
Chromosome Location	chr11:101787112-101787113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1004352	0.81[EUR][1000 genomes]
rs10791545	0.81[ASW][hapmap];0.84[CEU][hapmap];0.91[LWK][hapmap];0.88[MKK][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs10895220	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs10895224	0.87[YRI][hapmap]
rs10895228	0.83[EUR][1000 genomes]
rs11225080	0.82[EUR][1000 genomes]
rs12281520	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12787877	0.80[EUR][1000 genomes]
rs12802591	0.81[ASW][hapmap];0.95[LWK][hapmap];0.90[MKK][hapmap];0.84[YRI][hapmap]
rs1372414	0.86[LWK][hapmap];0.84[MKK][hapmap]
rs1441929	0.91[LWK][hapmap];0.89[MKK][hapmap]
rs1661409	0.81[TSI][hapmap]
rs1661410	0.84[CEU][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs1661411	0.91[LWK][hapmap];0.86[MKK][hapmap]
rs1783740	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs2119734	0.81[ASW][hapmap];0.88[CEU][hapmap];0.95[LWK][hapmap];0.93[MKK][hapmap];0.82[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2282612	0.94[ASW][hapmap];0.88[CEU][hapmap];0.93[LWK][hapmap];0.88[MKK][hapmap];0.81[TSI][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7107662	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs7122772	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs975810	0.91[LWK][hapmap];0.89[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052159	chr11:101439655-101853293	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1051457	chr11:101446705-101837650	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv832250	chr11:101617934-101804020	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7105709	C11orf70	cis	cerebellum	SCAN
rs7105709	KIAA1377	cis	parietal	SCAN
rs7105709	KRTAP5-2	trans	parietal	SCAN
rs7105709	KIAA1377	cis	cerebellum	SCAN

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101784800-101787800	Active TSS	Aorta	Aorta
2	chr11:101785000-101787200	Active TSS	Brain Substantia Nigra	brain
3	chr11:101785000-101787200	Active TSS	Ovary	ovary
4	chr11:101785000-101787400	Active TSS	Stomach Smooth Muscle	stomach
5	chr11:101785000-101787800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:101785200-101787200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:101785200-101787200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:101785200-101787200	Active TSS	Right Atrium	heart
9	chr11:101785200-101787400	Active TSS	Brain Angular Gyrus	brain
10	chr11:101785400-101787200	Active TSS	Brain Cingulate Gyrus	brain
11	chr11:101785400-101787200	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr11:101785400-101787200	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr11:101785400-101787200	Active TSS	Fetal Intestine Small	intestine
14	chr11:101785400-101787200	Active TSS	Fetal Muscle Leg	muscle
15	chr11:101785400-101787600	Active TSS	A549	lung
16	chr11:101785400-101788200	Active TSS	Fetal Brain Female	brain
17	chr11:101785400-101788600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr11:101785400-101789000	Active TSS	Brain Anterior Caudate	brain
19	chr11:101785600-101787200	Active TSS	Fetal Lung	lung
20	chr11:101785600-101787200	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr11:101786000-101787200	Flanking Active TSS	Dnd41	blood
22	chr11:101786200-101787200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:101786200-101787200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:101786200-101787400	Active TSS	Brain Germinal Matrix	brain
25	chr11:101786200-101787400	Flanking Active TSS	HUVEC	blood vessel
26	chr11:101786200-101787800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:101786200-101789000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:101786200-101792000	Weak transcription	Small Intestine	intestine
29	chr11:101786200-101802400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:101786400-101787200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr11:101786400-101787400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr11:101786400-101787400	Flanking Active TSS	HMEC	breast
33	chr11:101786400-101787400	Flanking Active TSS	Osteobl	bone
34	chr11:101786400-101788200	Active TSS	Fetal Brain Male	brain
35	chr11:101786400-101789200	Weak transcription	Psoas Muscle	Psoas
36	chr11:101786400-101790200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:101786600-101787200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:101786600-101787200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:101786600-101787200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr11:101786600-101787200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr11:101786600-101787200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:101786600-101787200	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr11:101786600-101787400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr11:101786600-101787400	Enhancers	Primary B cells from peripheral blood	blood
45	chr11:101786600-101787400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr11:101786600-101787400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr11:101786600-101787400	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr11:101786600-101787400	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr11:101786800-101787200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:101786800-101787200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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