Variant report

Variant	rs9891492
Chromosome Location	chr17:45717955-45717956
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45717280..45719877-chr17:45720528..45723492,3	K562	blood:
2	chr17:45715837..45717988-chr17:45725691..45727874,2	K562	blood:

Variant related genes	Relation type
ENSG00000108424	Chromatin interaction
ENSG00000263766	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs9900629	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9905091	1.00[AMR][1000 genomes]

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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv1811231	chr17:45520374-45764956	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv1813964	chr17:45520374-45764956	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv2758458	chr17:45520374-45764956	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv2758693	chr17:45520374-45764956	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv428344	chr17:45520374-45764956	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45667400-45718200	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr17:45696600-45726000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr17:45696800-45726200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:45697000-45725800	Weak transcription	Brain Substantia Nigra	brain
5	chr17:45697200-45726000	Weak transcription	Brain Angular Gyrus	brain
6	chr17:45699400-45726000	Weak transcription	Brain Anterior Caudate	brain
7	chr17:45699400-45726200	Weak transcription	Fetal Kidney	kidney
8	chr17:45700000-45725600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr17:45700000-45725800	Weak transcription	Spleen	Spleen
10	chr17:45700400-45725800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr17:45700600-45725200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr17:45701400-45718800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:45701400-45724800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr17:45701400-45725600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr17:45701400-45725800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr17:45701400-45725800	Weak transcription	Left Ventricle	heart
17	chr17:45701400-45726000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr17:45701800-45723800	Weak transcription	Lung	lung
19	chr17:45701800-45725600	Weak transcription	Thymus	Thymus
20	chr17:45702000-45725800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:45702000-45726200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr17:45702200-45725800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:45702400-45725800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr17:45702600-45720400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:45702600-45725800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr17:45702600-45725800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr17:45702600-45726000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr17:45702800-45718600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr17:45702800-45725800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr17:45702800-45725800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr17:45702800-45725800	Weak transcription	NHDF-Ad	bronchial
32	chr17:45702800-45726000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr17:45702800-45726000	Weak transcription	A549	lung
34	chr17:45702800-45726000	Weak transcription	HSMMtube	muscle
35	chr17:45703000-45724800	Weak transcription	Fetal Thymus	thymus
36	chr17:45703000-45725600	Weak transcription	Placenta	Placenta
37	chr17:45703600-45725800	Weak transcription	Brain Hippocampus Middle	brain
38	chr17:45704000-45718800	Weak transcription	GM12878-XiMat	blood
39	chr17:45704000-45726000	Weak transcription	Osteobl	bone
40	chr17:45704200-45720600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr17:45704200-45724800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr17:45704400-45725800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr17:45704600-45726000	Weak transcription	Colon Smooth Muscle	Colon
44	chr17:45705200-45726000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr17:45706000-45724800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr17:45708000-45725800	Weak transcription	Pancreas	Pancrea
47	chr17:45712000-45726000	Weak transcription	NHEK	skin
48	chr17:45712200-45718200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:45712200-45725800	Weak transcription	HMEC	breast
50	chr17:45712400-45725800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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