Variant report

Variant	rs2292700
Chromosome Location	chr17:45362423-45362424
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45361920..45363647-chr17:45365032..45367345,2	MCF-7	breast:
2	chr17:45335188..45337634-chr17:45361564..45364329,3	K562	blood:
3	chr17:45329396..45331554-chr17:45361431..45363714,2	K562	blood:
4	chr17:45335188..45337634-chr17:45361564..45363925,2	K562	blood:
5	chr17:45360332..45367497-chr17:45367923..45374401,11	K562	blood:

Variant related genes	Relation type
ENSG00000259753	Chromatin interaction
ENSG00000238419	Chromatin interaction
ENSG00000259207	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11079771	0.87[CHB][hapmap]
rs11867192	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11867253	0.82[CEU][hapmap];0.81[CHB][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11868344	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11868912	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11869835	0.82[CEU][hapmap];0.81[CHB][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11870252	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11870781	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12051795	1.00[JPT][hapmap]
rs13306485	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941751	0.81[CHB][hapmap]
rs16941771	0.81[CHB][hapmap]
rs16941855	0.82[CEU][hapmap];0.81[CHB][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16941861	0.82[CEU][hapmap];0.81[CHB][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1878067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2317676	0.82[CEU][hapmap];0.81[CHB][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3785870	0.87[CHB][hapmap]
rs3785873	0.82[CEU][hapmap];0.81[CHB][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55706706	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56722403	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73322309	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8064871	0.93[ASN][1000 genomes]
rs8073179	0.86[ASN][1000 genomes]
rs8073229	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.90[TSI][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8077238	0.90[ASN][1000 genomes]
rs8077375	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2292700	C17orf57	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:49 , 50 per page) page: 1

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	chr17:45357200-45363800	Weak transcription	Fetal Heart	heart
4	chr17:45357200-45371600	Weak transcription	Right Ventricle	heart
5	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
6	chr17:45357800-45365800	Weak transcription	Ovary	ovary
7	chr17:45357800-45365800	Weak transcription	HSMMtube	muscle
8	chr17:45357800-45369400	Weak transcription	Fetal Intestine Small	intestine
9	chr17:45358200-45363600	Weak transcription	Spleen	Spleen
10	chr17:45358200-45363800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr17:45358200-45364000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr17:45358200-45365000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr17:45358200-45366000	Weak transcription	Right Atrium	heart
14	chr17:45358200-45367600	Weak transcription	Adipose Nuclei	Adipose
15	chr17:45358200-45371800	Weak transcription	Colonic Mucosa	Colon
16	chr17:45358200-45377200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr17:45358400-45363600	Weak transcription	HSMM	muscle
18	chr17:45358400-45365800	Weak transcription	NH-A	brain
19	chr17:45358400-45366000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr17:45358600-45364000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr17:45358600-45371000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr17:45358800-45363600	Weak transcription	NHLF	lung
23	chr17:45358800-45364000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:45358800-45366000	Weak transcription	Lung	lung
25	chr17:45359000-45363000	Weak transcription	K562	blood
26	chr17:45359000-45363400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr17:45359000-45371600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr17:45359000-45372000	Weak transcription	Left Ventricle	heart
29	chr17:45359000-45389800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr17:45359200-45363200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr17:45359400-45363600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr17:45359800-45362800	Strong transcription	HUVEC	blood vessel
33	chr17:45359800-45371200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr17:45360000-45364600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr17:45360000-45366000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr17:45360400-45371800	Strong transcription	Colon Smooth Muscle	Colon
37	chr17:45360600-45373800	Strong transcription	Fetal Stomach	stomach
38	chr17:45360800-45371800	Strong transcription	Fetal Muscle Leg	muscle
39	chr17:45361400-45370000	Strong transcription	Aorta	Aorta
40	chr17:45361400-45371400	Strong transcription	Stomach Smooth Muscle	stomach
41	chr17:45361800-45362600	Strong transcription	NHDF-Ad	bronchial
42	chr17:45361800-45363200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr17:45361800-45367400	Strong transcription	Placenta	Placenta
44	chr17:45361800-45368200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr17:45362000-45362600	Strong transcription	Osteobl	bone
46	chr17:45362000-45363000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr17:45362000-45363200	Enhancers	Liver	Liver
48	chr17:45362000-45363800	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr17:45362400-45362600	Strong transcription	Rectal Smooth Muscle	rectum

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