Variant report

Variant	rs7214096
Chromosome Location	chr17:45370518-45370519
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45369846..45373285-chr17:45374240..45379330,4	K562	blood:
2	chr17:45363175..45368028-chr17:45369299..45373237,4	K562	blood:
3	chr17:45368833..45371722-chr17:45375915..45378676,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11650022	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11653733	1.00[CHB][hapmap]
rs17218711	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17605038	1.00[CHB][hapmap]
rs5918	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62074395	0.87[EUR][1000 genomes]
rs62074396	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62074428	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217214	0.91[LWK][hapmap];0.86[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7223956	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8069732	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8077375	0.85[CEU][hapmap];0.82[TSI][hapmap]
rs8078614	0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7214096	KRT31	cis	parietal	SCAN
rs7214096	HSD17B1	cis	cerebellum	SCAN
rs7214096	C17orf105	cis	cerebellum	SCAN
rs7214096	EFTUD2	cis	cerebellum	SCAN
rs7214096	C17orf57	cis	cerebellum	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45354600-45372000	Weak transcription	Esophagus	oesophagus
2	chr17:45356800-45377200	Weak transcription	Fetal Intestine Large	intestine
3	chr17:45357200-45371600	Weak transcription	Right Ventricle	heart
4	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
5	chr17:45358200-45371800	Weak transcription	Colonic Mucosa	Colon
6	chr17:45358200-45377200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr17:45358600-45371000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr17:45359000-45371600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr17:45359000-45372000	Weak transcription	Left Ventricle	heart
10	chr17:45359000-45389800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr17:45359800-45371200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr17:45360400-45371800	Strong transcription	Colon Smooth Muscle	Colon
13	chr17:45360600-45373800	Strong transcription	Fetal Stomach	stomach
14	chr17:45360800-45371800	Strong transcription	Fetal Muscle Leg	muscle
15	chr17:45361400-45371400	Strong transcription	Stomach Smooth Muscle	stomach
16	chr17:45362800-45370800	Weak transcription	HUVEC	blood vessel
17	chr17:45364400-45371800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr17:45365800-45370800	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr17:45366000-45371400	Weak transcription	GM12878-XiMat	blood
20	chr17:45366200-45370600	Weak transcription	Primary B cells from cord blood	blood
21	chr17:45366200-45371400	Weak transcription	HSMM	muscle
22	chr17:45366200-45372200	Weak transcription	Small Intestine	intestine
23	chr17:45366400-45371400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr17:45366400-45371600	Weak transcription	Hela-S3	cervix
25	chr17:45366400-45371800	Weak transcription	Lung	lung
26	chr17:45366600-45371200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr17:45366600-45371200	Weak transcription	NH-A	brain
28	chr17:45366600-45371800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr17:45366600-45371800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr17:45366600-45371800	Weak transcription	Right Atrium	heart
31	chr17:45366800-45371800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr17:45368200-45372800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr17:45368400-45370800	Weak transcription	Adipose Nuclei	Adipose
34	chr17:45368400-45371200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:45368400-45371400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr17:45368600-45371600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr17:45368600-45372800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr17:45368800-45371400	Weak transcription	HSMMtube	muscle
39	chr17:45369000-45371000	Strong transcription	Fetal Heart	heart
40	chr17:45369000-45371400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr17:45369400-45373000	Enhancers	K562	blood
42	chr17:45369600-45371400	Weak transcription	Liver	Liver
43	chr17:45369600-45373600	Strong transcription	Placenta	Placenta
44	chr17:45369800-45371600	Weak transcription	Gastric	stomach
45	chr17:45369800-45373400	Enhancers	Primary B cells from peripheral blood	blood
46	chr17:45370000-45371600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr17:45370000-45371600	Weak transcription	Fetal Intestine Small	intestine
48	chr17:45370000-45371600	Weak transcription	NHLF	lung
49	chr17:45370000-45371800	Weak transcription	Aorta	Aorta
50	chr17:45370000-45371800	Weak transcription	Ovary	ovary

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