Variant report

Variant	rs11828205
Chromosome Location	chr11:9335284-9335285
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:9335211-9336857	PBDE	blood:	n/a	n/a
2	IRF1	chr11:9335225-9335323	K562	blood:	n/a	n/a
3	MAZ	chr11:9335169-9337773	IMR90	lung:	n/a	n/a
4	FOXA2	chr11:9335246-9335639	HepG2	liver:	n/a	n/a
5	FOXA1	chr11:9335194-9335580	HepG2	liver:	n/a	n/a
6	HCFC1	chr11:9334920-9337042	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:9335230-9336755	IMR90	lung:	n/a	n/a
8	HNF4A	chr11:9335236-9335445	HepG2	liver:	n/a	n/a
9	REST	chr11:9335119-9337344	H1-neurons	neurons:	n/a	chr11:9336306-9336316 chr11:9336441-9336454 chr11:9335558-9335566
10	MXI1	chr11:9335043-9337033	GM12878	blood:	n/a	n/a
11	SIN3AK20	chr11:9335237-9336754	PANC-1	pancreas:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9335238..9336588-chr11:9482149..9483111,3	Hela-S3	cervix:
2	chr11:9328102..9338305-chr11:9404480..9412498,38	K562	blood:
3	chr11:9334169..9339249-chr11:9404487..9409469,24	K562	blood:
4	chr11:9333302..9335667-chr11:9353221..9354766,2	K562	blood:
5	chr11:9283945..9288774-chr11:9332278..9339081,12	K562	blood:
6	chr11:9334187..9337944-chr11:9481178..9484496,6	K562	blood:
7	chr11:9334944..9338278-chr11:9404354..9407861,9	MCF-7	breast:
8	chr11:9334942..9338160-chr11:9405201..9408296,5	MCF-7	breast:
9	chr11:9333668..9337804-chr11:9478729..9484496,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254884	TF binding region
ENSG00000268403	Chromatin interaction
ENSG00000184014	Chromatin interaction
ENSG00000205339	Chromatin interaction
ENSG00000166478	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10770014	0.85[ASN][1000 genomes]
rs10840202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11042273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11042290	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11042291	0.90[EUR][1000 genomes]
rs12273748	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12278189	0.90[EUR][1000 genomes]
rs12287120	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12290310	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12292589	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35327707	0.85[ASN][1000 genomes]
rs4537761	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4627080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59246353	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61875675	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61875692	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61875696	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61875698	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61875699	0.85[EUR][1000 genomes]
rs7103596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7112281	0.85[ASN][1000 genomes]
rs7925801	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7941600	0.84[ASN][1000 genomes]
rs7948659	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs956517	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
6	nsv508617	chr11:9314027-9408562	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
7	nsv521969	chr11:9334961-9379005	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9332800-9336800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:9333000-9336800	Active TSS	Psoas Muscle	Psoas
3	chr11:9334000-9336400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:9334000-9336600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:9334000-9336800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:9334200-9335400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:9334200-9335400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:9334200-9335400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:9334200-9335400	Weak transcription	Esophagus	oesophagus
10	chr11:9334200-9335400	Weak transcription	Lung	lung
11	chr11:9334200-9335400	Weak transcription	Pancreas	Pancrea
12	chr11:9334200-9335400	Weak transcription	Spleen	Spleen
13	chr11:9334200-9335600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:9334200-9335600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:9334200-9336400	Active TSS	Hela-S3	cervix
16	chr11:9334200-9336400	Active TSS	HSMM	muscle
17	chr11:9334200-9336600	Active TSS	HMEC	breast
18	chr11:9334200-9336600	Active TSS	K562	blood
19	chr11:9334600-9335400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:9334600-9335400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr11:9334600-9335400	Flanking Active TSS	Liver	Liver
22	chr11:9334600-9335400	Flanking Active TSS	Dnd41	blood
23	chr11:9334600-9335400	Flanking Active TSS	HUVEC	blood vessel
24	chr11:9334600-9335600	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr11:9334600-9335600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr11:9334600-9335600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr11:9334600-9335600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:9334600-9335600	Flanking Active TSS	Fetal Brain Male	brain
29	chr11:9334600-9335800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr11:9334600-9336400	Active TSS	Thymus	Thymus
31	chr11:9334600-9336600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:9334600-9336600	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr11:9334600-9336600	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr11:9334600-9336600	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr11:9334600-9336600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:9334600-9336600	Active TSS	A549	lung
37	chr11:9334600-9336600	Active TSS	HSMMtube	muscle
38	chr11:9334600-9336600	Active TSS	NHDF-Ad	bronchial
39	chr11:9334600-9336600	Active TSS	NHLF	lung
40	chr11:9334600-9337000	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr11:9334600-9337000	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr11:9334600-9337000	Active TSS	Right Atrium	heart
43	chr11:9334600-9337400	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr11:9334800-9335400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr11:9334800-9335400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr11:9334800-9335400	Flanking Active TSS	Fetal Lung	lung
47	chr11:9334800-9335400	Flanking Active TSS	Fetal Stomach	stomach
48	chr11:9334800-9335400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr11:9334800-9335400	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr11:9334800-9335400	Active TSS	HepG2	liver

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