Variant report

Variant	rs17819165
Chromosome Location	chr8:120851805-120851806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120843795..120849237-chr8:120850670..120854947,7	MCF-7	breast:
2	chr8:120850240..120852380-chr8:120853597..120855807,2	K562	blood:

Variant related genes	Relation type
ENSG00000064313	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17817611	1.00[AMR][1000 genomes];1.00[EUR][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	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120845600-120852000	Weak transcription	Aorta	Aorta
2	chr8:120845600-120853200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:120845600-120865600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:120845600-120867400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:120845800-120855200	Weak transcription	NH-A	brain
6	chr8:120846000-120855000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:120846000-120867200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:120846200-120852000	Weak transcription	Small Intestine	intestine
9	chr8:120846200-120852400	Weak transcription	Brain Angular Gyrus	brain
10	chr8:120846200-120852600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:120846200-120854200	Weak transcription	Psoas Muscle	Psoas
12	chr8:120846200-120854600	Weak transcription	Spleen	Spleen
13	chr8:120846200-120855400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:120846200-120856000	Weak transcription	Left Ventricle	heart
15	chr8:120846200-120857000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:120846200-120857200	Strong transcription	Fetal Thymus	thymus
17	chr8:120846200-120859400	Weak transcription	Lung	lung
18	chr8:120846200-120865600	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:120846200-120865600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:120846200-120865800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:120846200-120866000	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:120846200-120867000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:120846200-120867000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:120846200-120867000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr8:120846200-120867000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:120846200-120867000	Weak transcription	Osteobl	bone
27	chr8:120846200-120867200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr8:120846200-120867200	Weak transcription	Right Ventricle	heart
29	chr8:120846200-120867400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:120846200-120867600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:120846200-120867600	Weak transcription	Gastric	stomach
32	chr8:120846200-120867600	Weak transcription	Pancreas	Pancrea
33	chr8:120846400-120852000	Weak transcription	Fetal Kidney	kidney
34	chr8:120846400-120852400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr8:120846400-120856800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:120846400-120857000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr8:120846400-120861200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:120846400-120866800	Weak transcription	Primary B cells from cord blood	blood
39	chr8:120846400-120867000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr8:120846400-120867200	Weak transcription	Liver	Liver
41	chr8:120846600-120854600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:120846600-120854800	Weak transcription	NHDF-Ad	bronchial
43	chr8:120846600-120866000	Weak transcription	HepG2	liver
44	chr8:120846600-120867000	Weak transcription	Primary T cells from cord blood	blood
45	chr8:120846800-120852000	Weak transcription	Fetal Intestine Large	intestine
46	chr8:120846800-120866400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:120847200-120852200	Strong transcription	K562	blood
48	chr8:120847400-120854200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:120847400-120867000	Weak transcription	HSMM	muscle
50	chr8:120847600-120857000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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