Variant report

Variant	rs11234429
Chromosome Location	chr11:85539617-85539618
allele	A/G
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85365300..85367946-chr11:85539252..85541272,2	MCF-7	breast:
2	chr11:85518792..85520429-chr11:85538920..85541767,2	K562	blood:
3	chr11:85539470..85540039-chr11:85555610..85556260,2	MCF-7	breast:
4	chr11:85536056..85537864-chr11:85539070..85542724,4	K562	blood:
5	chr11:85539212..85541786-chr11:85564871..85567550,4	MCF-7	breast:
6	chr11:85538884..85541590-chr11:85810993..85813631,2	MCF-7	breast:
7	chr11:85368566..85377997-chr11:85535712..85544822,15	MCF-7	breast:
8	chr11:85539001..85544573-chr11:85562593..85567590,7	MCF-7	breast:
9	chr11:85456897..85461654-chr11:85539528..85543738,6	MCF-7	breast:
10	chr11:85535201..85544742-chr11:85551836..85558472,22	MCF-7	breast:
11	chr11:85495095..85500419-chr11:85536956..85541120,6	MCF-7	breast:
12	chr11:85434008..85435703-chr11:85538641..85540808,2	MCF-7	breast:
13	chr11:85535912..85542788-chr11:85553207..85557743,22	MCF-7	breast:
14	chr11:85461323..85463573-chr11:85539177..85540857,2	MCF-7	breast:
15	chr11:85371076..85377725-chr11:85533880..85541610,16	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137504	Chromatin interaction
ENSG00000150676	Chromatin interaction
ENSG00000215504	Chromatin interaction
ENSG00000171202	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11234454	0.89[GIH][hapmap]
rs1445506	0.89[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv832222	chr11:85405712-85603981	Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1047147	chr11:85459235-85594800	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv541114	chr11:85459235-85594800	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	esv2762927	chr11:85468051-85559618	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1052737	chr11:85477084-85554914	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv541115	chr11:85477084-85554914	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv1048818	chr11:85524635-85746473	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv541116	chr11:85524635-85746473	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	nsv975332	chr11:85535584-85559775	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11234429	SYTL2	cis	parietal	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85532400-85540000	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr11:85532800-85540000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr11:85533200-85539800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:85534600-85540000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:85535200-85540000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr11:85535400-85539800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:85535600-85540000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:85536400-85543400	Enhancers	Stomach Mucosa	stomach
9	chr11:85536600-85540000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr11:85536600-85540000	Enhancers	NHLF	lung
11	chr11:85536800-85540200	Enhancers	Fetal Intestine Small	intestine
12	chr11:85537200-85540000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr11:85537400-85540000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:85537400-85540000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:85537400-85540000	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr11:85537400-85540200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr11:85537400-85540200	Enhancers	HMEC	breast
18	chr11:85537600-85540200	Enhancers	Osteobl	bone
19	chr11:85537800-85546800	Weak transcription	Left Ventricle	heart
20	chr11:85538200-85539800	Enhancers	Rectal Smooth Muscle	rectum
21	chr11:85538200-85540000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:85538200-85540000	Enhancers	NHEK	skin
23	chr11:85538200-85540200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:85538400-85540000	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr11:85538400-85540000	Enhancers	NH-A	brain
26	chr11:85538400-85540200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr11:85538600-85539800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:85538600-85540000	Enhancers	HUVEC	blood vessel
29	chr11:85538800-85539800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:85538800-85539800	Weak transcription	Pancreas	Pancrea
31	chr11:85538800-85539800	Weak transcription	Small Intestine	intestine
32	chr11:85538800-85541400	Weak transcription	Gastric	stomach
33	chr11:85539000-85539800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:85539000-85540000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:85539000-85540000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr11:85539000-85540000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:85539000-85540000	Enhancers	HSMM	muscle
38	chr11:85539000-85540000	Enhancers	HSMMtube	muscle
39	chr11:85539000-85540200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:85539000-85540600	Enhancers	NHDF-Ad	bronchial
41	chr11:85539200-85539800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:85539200-85540200	Enhancers	Hela-S3	cervix
43	chr11:85539200-85541600	Weak transcription	Fetal Lung	lung
44	chr11:85539200-85555400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:85539400-85539800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:85539400-85539800	Weak transcription	Fetal Intestine Large	intestine
47	chr11:85539400-85539800	Weak transcription	Ovary	ovary
48	chr11:85539400-85540000	Flanking Active TSS	A549	lung
49	chr11:85539600-85539800	Enhancers	Duodenum Mucosa	Duodenum

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