Variant report

Variant	rs17810916
Chromosome Location	chr11:85337746-85337747
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:85337606-85337806	K562	blood:	n/a	n/a
2	HCFC1	chr11:85337644-85337755	K562	blood:	n/a	n/a
3	CCNT2	chr11:85337604-85337804	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85335097..85341629-chr11:85372332..85377145,15	MCF-7	breast:
2	chr11:85337127..85343160-chr11:85357064..85364111,20	MCF-7	breast:
3	chr11:85337740..85341959-chr11:85373645..85377756,6	MCF-7	breast:
4	chr11:85337637..85339242-chr11:85365920..85368158,2	MCF-7	breast:
5	chr11:85336278..85337921-chr11:85339997..85342218,2	K562	blood:

No data

Variant related genes	Relation type
TMEM126B	TF binding region
ENSG00000171202	Chromatin interaction
ENSG00000137504	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11820806	1.00[ASN][1000 genomes]
rs11822476	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17148336	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17743426	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17743922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17811011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17811094	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17811130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35751209	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61740616	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7105905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105923	1.00[ASN][1000 genomes]
rs7925465	1.00[ASN][1000 genomes]
rs7931722	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938015	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939547	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942847	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945053	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7948145	0.83[AMR][1000 genomes]
rs7949809	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85324800-85338000	Weak transcription	Fetal Brain Male	brain
2	chr11:85331200-85338200	Weak transcription	Lung	lung
3	chr11:85336000-85341000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr11:85336200-85339000	Active TSS	Right Atrium	heart
5	chr11:85336200-85340600	Active TSS	Ovary	ovary
6	chr11:85336200-85341400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr11:85336400-85337800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr11:85336400-85340400	Active TSS	Aorta	Aorta
9	chr11:85336600-85338000	Weak transcription	GM12878-XiMat	blood
10	chr11:85336600-85338200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr11:85336800-85337800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:85336800-85338000	Enhancers	Brain Substantia Nigra	brain
13	chr11:85336800-85338000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:85337000-85337800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr11:85337000-85337800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:85337000-85340200	Active TSS	Stomach Smooth Muscle	stomach
17	chr11:85337200-85338000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:85337200-85338200	Enhancers	Dnd41	blood
19	chr11:85337200-85338400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:85337200-85340800	Active TSS	Right Ventricle	heart
21	chr11:85337200-85341000	Active TSS	NHLF	lung
22	chr11:85337400-85337800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr11:85337400-85337800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:85337400-85337800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr11:85337400-85338400	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr11:85337400-85341000	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr11:85337600-85337800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr11:85337600-85337800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
29	chr11:85337600-85337800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:85337600-85337800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:85337600-85337800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr11:85337600-85337800	Flanking Active TSS	Liver	Liver
33	chr11:85337600-85337800	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr11:85337600-85337800	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr11:85337600-85337800	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr11:85337600-85337800	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr11:85337600-85337800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr11:85337600-85337800	Flanking Active TSS	Fetal Lung	lung
39	chr11:85337600-85337800	Flanking Active TSS	Fetal Stomach	stomach
40	chr11:85337600-85337800	Flanking Active TSS	Left Ventricle	heart
41	chr11:85337600-85337800	Flanking Active TSS	Psoas Muscle	Psoas
42	chr11:85337600-85337800	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr11:85337600-85337800	Enhancers	Small Intestine	intestine
44	chr11:85337600-85337800	Flanking Active TSS	NHDF-Ad	bronchial
45	chr11:85337600-85338000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:85337600-85338000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:85337600-85338000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:85337600-85338000	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr11:85337600-85338000	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr11:85337600-85338000	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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