Variant report

Variant	rs17740505
Chromosome Location	chr8:118540122-118540123
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118533698..118536526-chr8:118538720..118540697,2	K562	blood:
2	chr8:118531749..118534730-chr8:118539485..118541249,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164758	Chromatin interaction
ENSG00000239917	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10505295	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505315	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11990107	0.86[EUR][1000 genomes]
rs11992669	1.00[JPT][hapmap]
rs11997337	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16889833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889862	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17667915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17668001	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17668007	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17668076	0.89[ASN][1000 genomes]
rs17668088	0.89[ASN][1000 genomes]
rs28571816	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3937768	0.87[ASN][1000 genomes]
rs62521183	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62521198	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62521200	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521203	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62521228	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62521229	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62521231	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs717349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs749492	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs755982	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs922587	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428525	chr8:118384428-118543349	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv831436	chr8:118384463-118543297	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118533600-118541600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:118533600-118543200	Weak transcription	Placenta	Placenta
3	chr8:118533600-118545800	Weak transcription	Esophagus	oesophagus
4	chr8:118533600-118546000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:118533600-118546000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:118533600-118546400	Weak transcription	Gastric	stomach
7	chr8:118533600-118546400	Weak transcription	Pancreas	Pancrea
8	chr8:118533600-118546400	Weak transcription	Spleen	Spleen
9	chr8:118533800-118541400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:118533800-118541600	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:118533800-118543400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr8:118533800-118545600	Weak transcription	Fetal Intestine Small	intestine
13	chr8:118533800-118545800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:118533800-118546400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:118533800-118553800	Weak transcription	Stomach Mucosa	stomach
16	chr8:118534000-118541600	Weak transcription	Ovary	ovary
17	chr8:118534000-118541800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:118534000-118541800	Weak transcription	Left Ventricle	heart
19	chr8:118534000-118542000	Weak transcription	HSMM	muscle
20	chr8:118534200-118541600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:118534200-118543000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:118534200-118543200	Weak transcription	Brain Germinal Matrix	brain
23	chr8:118534200-118545600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:118534200-118545600	Weak transcription	Colonic Mucosa	Colon
25	chr8:118534200-118545800	Weak transcription	Right Ventricle	heart
26	chr8:118534200-118546000	Weak transcription	HSMMtube	muscle
27	chr8:118534200-118546000	Weak transcription	NH-A	brain
28	chr8:118534400-118540800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:118534400-118541000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr8:118534400-118541200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:118534400-118541400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:118534400-118541600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:118534400-118541600	Weak transcription	Fetal Intestine Large	intestine
34	chr8:118534400-118541600	Weak transcription	Fetal Lung	lung
35	chr8:118534400-118541800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr8:118534400-118542400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:118534400-118543000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:118534400-118543000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:118534400-118543200	Weak transcription	Brain Anterior Caudate	brain
40	chr8:118534400-118543200	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:118534400-118543400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr8:118534400-118543400	Weak transcription	HUVEC	blood vessel
43	chr8:118534400-118545600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:118534400-118545600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:118534400-118545600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:118534400-118545600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:118534400-118545600	Weak transcription	NHEK	skin
48	chr8:118534400-118545800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr8:118534400-118546000	Weak transcription	Aorta	Aorta
50	chr8:118534400-118546000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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