Variant report

Variant	rs4756118
Chromosome Location	chr11:34253421-34253422
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4756119	0.95[CHB][hapmap];0.85[LWK][hapmap]

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	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1050413	chr11:34237529-34259820	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2762905	chr11:34238653-34256130	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv818809	chr11:34239730-34354076	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv2753052	chr11:34247462-34358300	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv897204	chr11:34248229-34271712	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv897206	chr11:34253421-34337564	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4756118	CD59	cis	parietal	SCAN
rs4756118	ABTB2	cis	cerebellum	SCAN
rs4756118	C11orf41	cis	parietal	SCAN
rs4756118	QSER1	cis	parietal	SCAN
rs4756118	CD59	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34237200-34255600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:34245200-34254600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:34245200-34255400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:34245200-34255600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:34245200-34255800	Weak transcription	HSMMtube	muscle
6	chr11:34245200-34263800	Weak transcription	Right Atrium	heart
7	chr11:34245200-34264200	Weak transcription	Aorta	Aorta
8	chr11:34245400-34254600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:34245400-34255600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:34245400-34255600	Weak transcription	NHLF	lung
11	chr11:34245600-34263600	Weak transcription	Right Ventricle	heart
12	chr11:34246200-34255600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:34246800-34255800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:34247000-34254800	Weak transcription	Fetal Intestine Small	intestine
15	chr11:34247000-34255800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:34247000-34257400	Weak transcription	Fetal Stomach	stomach
17	chr11:34248200-34254600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:34249600-34263600	Weak transcription	Gastric	stomach
19	chr11:34251600-34255400	Enhancers	GM12878-XiMat	blood
20	chr11:34251800-34255400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:34251800-34255600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:34252000-34255400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:34252000-34255600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:34252600-34253800	Enhancers	A549	lung
25	chr11:34253200-34253600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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