Variant report

Variant	rs34932365
Chromosome Location	chr11:18345616-18345617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:18345379-18345700	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr11:18343417-18347251	K562	blood:	n/a	n/a
3	POLR2A	chr11:18345520-18345896	HepG2	liver:	n/a	n/a
4	ZNF384	chr11:18345321-18346260	K562	blood:	n/a	n/a
5	WRNIP1	chr11:18345359-18345640	GM12878	blood:	n/a	n/a
6	YY1	chr11:18345584-18345725	K562	blood:	n/a	n/a
7	CHD1	chr11:18345424-18345692	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:18345510-18346320	GM12892	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18343253..18347316-chr11:18546908..18550670,5	K562	blood:
2	chr11:18340646..18350403-chr11:18414573..18418572,22	K562	blood:
3	chr11:18344364..18346081-chr17:57919278..57922169,2	MCF-7	breast:
4	chr11:18345279..18346955-chr11:18353522..18355441,2	MCF-7	breast:
5	chr11:18343053..18346262-chr11:18415665..18418898,6	MCF-7	breast:
6	chr11:18345078..18346957-chr11:18655945..18657516,2	K562	blood:
7	chr11:18340586..18347042-chr11:18413380..18419628,16	K562	blood:

No data

Variant related genes	Relation type
HPS5	TF binding region
ENSG00000179119	Chromatin interaction
ENSG00000110768	Chromatin interaction
ENSG00000134333	Chromatin interaction
ENSG00000074319	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12801224	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv428569	chr11:18194030-18350869	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers 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	144 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	chr11:18341000-18346000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:18342400-18346000	Active TSS	K562	blood
3	chr11:18342600-18345800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr11:18342600-18346000	Active TSS	NHDF-Ad	bronchial
5	chr11:18344400-18346600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:18344400-18346600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:18344400-18346600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:18344400-18346800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr11:18344600-18346000	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr11:18344600-18346000	Flanking Active TSS	Dnd41	blood
11	chr11:18344600-18346200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr11:18344600-18346200	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr11:18344600-18346600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr11:18344600-18346600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr11:18344600-18346600	Flanking Active TSS	Osteobl	bone
16	chr11:18344600-18346800	Flanking Active TSS	Hela-S3	cervix
17	chr11:18344600-18346800	Flanking Active TSS	NHEK	skin
18	chr11:18344800-18346000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:18344800-18346000	Flanking Active TSS	Fetal Intestine Large	intestine
20	chr11:18344800-18346000	Flanking Active TSS	HepG2	liver
21	chr11:18344800-18346200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:18344800-18346200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:18344800-18346400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:18344800-18346400	Enhancers	Esophagus	oesophagus
25	chr11:18344800-18346400	Enhancers	Placenta	Placenta
26	chr11:18344800-18346600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr11:18344800-18346800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:18344800-18346800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr11:18344800-18346800	Flanking Active TSS	HMEC	breast
30	chr11:18344800-18347200	Enhancers	Small Intestine	intestine
31	chr11:18344800-18349000	Weak transcription	Lung	lung
32	chr11:18344800-18353400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr11:18345000-18345800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:18345000-18345800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:18345000-18346000	Enhancers	Primary hematopoietic stem cells	blood
36	chr11:18345000-18346000	Weak transcription	Fetal Kidney	kidney
37	chr11:18345000-18346000	Enhancers	Fetal Thymus	thymus
38	chr11:18345000-18346000	Active TSS	Rectal Smooth Muscle	rectum
39	chr11:18345000-18346200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:18345000-18346200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:18345000-18346200	Enhancers	Primary B cells from peripheral blood	blood
42	chr11:18345000-18346200	Enhancers	Left Ventricle	heart
43	chr11:18345000-18346400	Enhancers	Primary T cells fromperipheralblood	blood
44	chr11:18345000-18346400	Enhancers	Fetal Brain Male	brain
45	chr11:18345000-18346400	Enhancers	Pancreas	Pancrea
46	chr11:18345000-18346400	Enhancers	Thymus	Thymus
47	chr11:18345000-18346600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr11:18345000-18346600	Enhancers	Brain Germinal Matrix	brain
49	chr11:18345000-18346600	Enhancers	Stomach Mucosa	stomach
50	chr11:18345000-18346800	Enhancers	Primary neutrophils fromperipheralblood	blood

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