Variant report

Variant	rs4754035
Chromosome Location	chr11:101882379-101882380
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:101555926..101558823-chr11:101880932..101883184,2	MCF-7	breast:
2	chr11:101722375..101723959-chr11:101880701..101883311,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10791543	0.88[JPT][hapmap]
rs10791549	0.81[EUR][1000 genomes]
rs1274901	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs1372413	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs1441928	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs1661412	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs1783742	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs3740931	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs3858419	0.88[JPT][hapmap]
rs4754829	0.88[CHB][hapmap]
rs7942191	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs880474	0.94[CHB][hapmap];0.88[JPT][hapmap]

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	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
2	nsv898333	chr11:101832670-102079986	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4754035	C11orf70	cis	cerebellum	SCAN
rs4754035	CNTN5	cis	cerebellum	SCAN
rs4754035	KIAA1377	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101827200-101883400	Weak transcription	Aorta	Aorta
2	chr11:101879400-101884400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:101880400-101884600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr11:101880600-101882400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:101880600-101882600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr11:101880600-101882600	Enhancers	HMEC	breast
7	chr11:101880600-101882600	Enhancers	NHLF	lung
8	chr11:101880600-101882800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:101880800-101882600	Enhancers	HUVEC	blood vessel
10	chr11:101880800-101882800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:101880800-101882800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:101880800-101882800	Enhancers	HSMM	muscle
13	chr11:101880800-101885800	Enhancers	Placenta	Placenta
14	chr11:101881000-101882600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr11:101881000-101882600	Enhancers	Fetal Intestine Small	intestine
16	chr11:101881000-101882600	Enhancers	NH-A	brain
17	chr11:101881400-101882600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:101881600-101882400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr11:101881600-101882400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:101881600-101882400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:101881600-101882400	Enhancers	HSMMtube	muscle
22	chr11:101881800-101883200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:101881800-101885400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:101882000-101882400	Flanking Active TSS	A549	lung
25	chr11:101882000-101882600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr11:101882000-101882600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:101882000-101882600	Enhancers	NHDF-Ad	bronchial
28	chr11:101882000-101883200	Weak transcription	HepG2	liver
29	chr11:101882200-101882400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:101882200-101882600	Enhancers	Adipose Nuclei	Adipose
31	chr11:101882200-101882600	Enhancers	Osteobl	bone
32	chr11:101882200-101882800	Enhancers	Hela-S3	cervix
33	chr11:101882200-101882800	Enhancers	NHEK	skin
34	chr11:101882200-101883600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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