Variant report

Variant	rs8080718
Chromosome Location	chr17:45977866-45977867
allele	A/G
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	EBF1	chr17:45977684-45977866	GM12878	blood:	n/a	chr17:45977811-45977821 chr17:45977810-45977821

No.	Distal block	Cell Line	Cell type
1	chr17:45976034..45978466-chr17:46021593..46024287,3	K562	blood:
2	chr17:45976761..45979626-chr17:46046892..46049252,2	K562	blood:
3	chr17:45975938..45978539-chr17:45995785..45997844,2	MCF-7	breast:
4	chr17:45977677..45979429-chr17:46010688..46013383,2	MCF-7	breast:
5	chr17:45909200..45911562-chr17:45975742..45978250,2	K562	blood:
6	chr17:45959665..45962202-chr17:45976035..45979833,4	K562	blood:

Variant related genes	Relation type
ENSG00000264920	TF binding region
ENSG00000263798	Chromatin interaction
ENSG00000266821	Chromatin interaction
ENSG00000141294	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000108439	Chromatin interaction

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

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

rs_ID	r²[population]
rs71377326	0.85[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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS 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 target site	48 gene(s)	inside rSNPs	diseases
3	nsv908575	chr17:45957591-46049533	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
4	nsv1062503	chr17:45977445-46021384	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45974200-45982800	Weak transcription	Spleen	Spleen
2	chr17:45974400-45978800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:45974600-45979000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:45974600-45981600	Weak transcription	Pancreas	Pancrea
5	chr17:45974600-45981800	Weak transcription	Ovary	ovary
6	chr17:45974600-45992000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr17:45974800-45978800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr17:45975000-45978000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr17:45975000-45978800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr17:45975000-45982000	Weak transcription	Esophagus	oesophagus
11	chr17:45975000-45982200	Weak transcription	Colonic Mucosa	Colon
12	chr17:45975000-45982800	Weak transcription	Gastric	stomach
13	chr17:45975000-45993400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr17:45975200-45978000	Weak transcription	NHLF	lung
15	chr17:45975200-45979000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr17:45975200-45980800	Genic enhancers	Fetal Muscle Leg	muscle
17	chr17:45975200-45982200	Weak transcription	Stomach Mucosa	stomach
18	chr17:45975200-45999400	Weak transcription	Fetal Kidney	kidney
19	chr17:45975200-46000400	Weak transcription	Small Intestine	intestine
20	chr17:45975400-45981600	Weak transcription	A549	lung
21	chr17:45975400-45981800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr17:45975400-45982400	Weak transcription	NHEK	skin
23	chr17:45975400-45983000	Weak transcription	HUVEC	blood vessel
24	chr17:45975600-45978200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr17:45975600-45980000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:45975600-45981600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr17:45975600-45992800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr17:45975800-45978400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr17:45975800-45978800	Weak transcription	Brain Angular Gyrus	brain
30	chr17:45975800-45979400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr17:45975800-45981800	Strong transcription	Fetal Stomach	stomach
32	chr17:45975800-46000600	Weak transcription	Hela-S3	cervix
33	chr17:45976000-45978200	Strong transcription	HSMM	muscle
34	chr17:45976000-45979200	Strong transcription	Fetal Lung	lung
35	chr17:45976000-45979600	Strong transcription	Placenta	Placenta
36	chr17:45976000-45980200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr17:45976000-45981600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr17:45976200-45978000	Strong transcription	Primary T cells from cord blood	blood
39	chr17:45976200-45978400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr17:45976200-45978400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
41	chr17:45976200-45978600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr17:45976200-45979200	Weak transcription	Brain Hippocampus Middle	brain
43	chr17:45976200-45979800	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr17:45976200-45981600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr17:45976400-45978400	Strong transcription	Primary B cells from cord blood	blood
46	chr17:45976400-45978400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr17:45976400-45978800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr17:45976400-45981600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr17:45976400-45981600	Weak transcription	HMEC	breast
50	chr17:45976400-45983000	Weak transcription	Aorta	Aorta

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