Variant report

Variant	rs11234389
Chromosome Location	chr11:85432393-85432394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:85432250-85432606	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85373450..85376919-chr11:85429977..85433486,3	K562	blood:
2	chr11:85430781..85433694-chr11:85551714..85553918,2	MCF-7	breast:

Variant related genes	Relation type
SYTL2	TF binding region
ENSG00000137504	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11234386	0.95[ASN][1000 genomes]
rs11234387	0.95[ASN][1000 genomes]
rs11234388	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11234390	0.86[ASN][1000 genomes]
rs11234391	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs11234392	0.81[ASN][1000 genomes]
rs11234393	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs11234395	0.81[ASN][1000 genomes]
rs11234397	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs11607789	0.85[CHB][hapmap]
rs12286043	0.98[EUR][1000 genomes]
rs17148355	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17148514	0.85[CHB][hapmap]
rs17208525	1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs17208602	1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs17208616	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17810701	1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs17810766	1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs17810802	1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs17810855	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17811120	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2044393	1.00[CHB][hapmap]
rs2276018	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2304342	1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs2304343	0.92[JPT][hapmap]
rs2374638	0.84[ASN][1000 genomes]
rs494119	1.00[CHB][hapmap]
rs56695336	0.84[ASN][1000 genomes]
rs58631677	0.86[ASN][1000 genomes]
rs59508078	0.84[ASN][1000 genomes]
rs616309	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs645798	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs678376	0.85[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs72958012	0.84[ASN][1000 genomes]
rs72958014	0.84[ASN][1000 genomes]
rs72958027	0.89[ASN][1000 genomes]
rs73518846	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv468768	chr11:85395180-85436352	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv555632	chr11:85395180-85436352	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	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
8	nsv898050	chr11:85406915-85499290	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1052123	chr11:85425856-85471132	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv555633	chr11:85426330-85473883	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1036110	chr11:85429074-85471132	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1054027	chr11:85429074-85477283	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv3471508	chr11:85429687-85472395	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv3471519	chr11:85429687-85472395	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv555634	chr11:85430397-85464922	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv555635	chr11:85430397-85470893	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv555636	chr11:85431886-85465179	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85397200-85438600	Weak transcription	Colonic Mucosa	Colon
2	chr11:85412000-85436800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:85412000-85438000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:85417600-85453000	Weak transcription	Gastric	stomach
5	chr11:85418400-85436400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:85422600-85448600	Weak transcription	Fetal Intestine Large	intestine
7	chr11:85422800-85448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:85424000-85448600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:85427200-85433000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:85430200-85437800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:85430400-85434000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:85430400-85436000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:85430400-85436600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:85430400-85437400	Weak transcription	Stomach Mucosa	stomach
15	chr11:85430400-85459000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:85430400-85480400	Weak transcription	Aorta	Aorta
17	chr11:85430600-85437200	Weak transcription	Fetal Kidney	kidney
18	chr11:85430600-85447000	Weak transcription	Ovary	ovary
19	chr11:85430800-85433000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:85430800-85433200	Enhancers	NHDF-Ad	bronchial
21	chr11:85430800-85434000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:85430800-85434200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:85430800-85435200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:85430800-85445000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:85430800-85447200	Weak transcription	Fetal Stomach	stomach
26	chr11:85430800-85448800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:85430800-85459000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr11:85431000-85433800	Weak transcription	HMEC	breast
29	chr11:85431000-85434000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:85431000-85434200	Weak transcription	NHEK	skin
31	chr11:85431000-85436400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:85431000-85445200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:85431200-85433600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr11:85431200-85436200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:85431200-85436200	Weak transcription	NH-A	brain
36	chr11:85431200-85436600	Weak transcription	Osteobl	bone
37	chr11:85431400-85433800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:85431400-85434000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:85431400-85436400	Weak transcription	A549	lung
40	chr11:85431400-85436600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:85431400-85451600	Weak transcription	HSMMtube	muscle
42	chr11:85431600-85436600	Weak transcription	HSMM	muscle
43	chr11:85431800-85435400	Weak transcription	NHLF	lung
44	chr11:85431800-85436600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:85431800-85437600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:85431800-85466600	Weak transcription	Brain Substantia Nigra	brain
47	chr11:85432000-85434000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:85432000-85434200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr11:85432000-85434200	Weak transcription	Primary T cells from cord blood	blood
50	chr11:85432000-85436600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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