Variant report

Variant	rs1798167
Chromosome Location	chr11:57299373-57299374
allele	G/T
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	PML	chr11:57297868-57299388	K562	blood:	n/a	n/a
2	ESRRA	chr11:57297365-57299876	GM12878	blood:	n/a	chr11:57297540-57297549 chr11:57299148-57299167 chr11:57298811-57298825
3	RCOR1	chr11:57297356-57299461	IMR90	lung:	n/a	n/a
4	EP300	chr11:57297818-57299424	K562	blood:	n/a	chr11:57298233-57298240
5	KAP1	chr11:57298939-57299659	K562	blood:	n/a	n/a
6	ARID3A	chr11:57298071-57299806	K562	blood:	n/a	n/a
7	CUX1	chr11:57298206-57299723	K562	blood:	n/a	n/a
8	GATA1	chr11:57297878-57299789	PBDE	blood:	n/a	chr11:57298840-57298849 chr11:57298835-57298856
9	CTCF	chr11:57298210-57299414	K562	blood:	n/a	chr11:57298954-57298963
10	GATA1	chr11:57296339-57299822	K562	blood:	n/a	chr11:57298840-57298849 chr11:57298835-57298856 chr11:57297355-57297365
11	TBL1XR1	chr11:57297803-57299776	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:57299281..57301007-chr11:57311388..57313824,2	K562	blood:
2	chr11:57296819..57301795-chr11:57434465..57437903,4	K562	blood:
3	chr11:57279697..57283964-chr11:57296063..57300992,5	K562	blood:
4	chr11:57279377..57284601-chr11:57296598..57300992,7	K562	blood:
5	chr11:57259488..57262312-chr11:57297158..57299801,2	K562	blood:
6	chr11:57296719..57299374-chr11:57308110..57310728,2	K562	blood:
7	chr11:57225401..57228536-chr11:57297717..57300309,4	K562	blood:
8	chr11:57229455..57232112-chr11:57299211..57300946,2	K562	blood:

Variant related genes	Relation type
TIMM10	TF binding region
ENSG00000156599	Chromatin interaction
ENSG00000214872	Chromatin interaction
ENSG00000149150	Chromatin interaction
ENSG00000186907	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17151933	1.00[CHD][hapmap]
rs2439885	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs488548	1.00[ASW][hapmap];0.92[LWK][hapmap];0.83[AMR][1000 genomes]
rs505955	0.83[AMR][1000 genomes]
rs522773	1.00[CHD][hapmap]
rs539893	1.00[ASW][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs546736	1.00[ASW][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs548788	0.83[AMR][1000 genomes]
rs573078	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1051032	chr11:57290124-57363064	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv541049	chr11:57290124-57363064	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1052073	chr11:57297499-57362802	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv541050	chr11:57297499-57362802	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57297400-57299400	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr11:57297400-57299400	Active TSS	A549	lung
3	chr11:57297600-57299400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:57297600-57299400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:57298400-57299400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr11:57298400-57304400	Weak transcription	Spleen	Spleen
7	chr11:57298600-57299400	Flanking Active TSS	Dnd41	blood
8	chr11:57298600-57299600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:57298800-57299400	Flanking Active TSS	GM12878-XiMat	blood
10	chr11:57298800-57299400	Flanking Active TSS	HMEC	breast
11	chr11:57298800-57319200	Weak transcription	Small Intestine	intestine
12	chr11:57299000-57299400	Enhancers	Primary B cells from peripheral blood	blood
13	chr11:57299000-57299400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr11:57299000-57299400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:57299000-57299400	Enhancers	Liver	Liver
16	chr11:57299000-57299800	Flanking Active TSS	K562	blood
17	chr11:57299000-57304400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:57299000-57304600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:57299000-57305800	Weak transcription	Lung	lung
20	chr11:57299000-57310200	Weak transcription	Right Ventricle	heart
21	chr11:57299000-57314000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:57299000-57317000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr11:57299000-57317200	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:57299000-57317400	Weak transcription	Fetal Brain Male	brain
25	chr11:57299200-57299400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr11:57299200-57299400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:57299200-57299400	Enhancers	Primary B cells from cord blood	blood
28	chr11:57299200-57299400	Enhancers	Primary T cells fromperipheralblood	blood
29	chr11:57299200-57299400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:57299200-57299400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr11:57299200-57299400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr11:57299200-57299400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr11:57299200-57299400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr11:57299200-57299400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr11:57299200-57299400	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr11:57299200-57299400	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr11:57299200-57299400	Enhancers	HUVEC	blood vessel
38	chr11:57299200-57299600	Enhancers	NHEK	skin
39	chr11:57299200-57299800	Enhancers	Primary T cells from cord blood	blood
40	chr11:57299200-57299800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr11:57299200-57299800	Enhancers	Hela-S3	cervix
42	chr11:57299200-57299800	Enhancers	HepG2	liver
43	chr11:57299200-57299800	Enhancers	NHLF	lung
44	chr11:57299200-57300200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:57299200-57304200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:57299200-57304200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr11:57299200-57304400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:57299200-57304400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:57299200-57305200	Weak transcription	Brain Germinal Matrix	brain
50	chr11:57299200-57305600	Weak transcription	Fetal Brain Female	brain

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