Variant report

Variant	rs757685
Chromosome Location	chr7:38775323-38775324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38774892..38777072-chr7:39005282..39007402,2	K562	blood:
2	chr7:38772482..38774606-chr7:38774612..38777168,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1012976	1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10224856	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10225415	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10254354	1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10270427	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10951574	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10951575	1.00[JPT][hapmap]
rs12701653	1.00[JPT][hapmap]
rs12701656	1.00[ASN][1000 genomes]
rs12701657	1.00[ASN][1000 genomes]
rs12701661	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13224619	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13224857	1.00[ASN][1000 genomes]
rs13229445	1.00[ASN][1000 genomes]
rs13230196	1.00[JPT][hapmap]
rs13235997	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17240051	1.00[ASN][1000 genomes]
rs2040878	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2107742	1.00[JPT][hapmap]
rs2189854	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2214667	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2214668	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2215032	1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2245773	1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2286089	1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2286093	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2286101	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2286103	1.00[JPT][hapmap]
rs2392599	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2392610	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34621392	1.00[ASN][1000 genomes]
rs34886315	1.00[ASN][1000 genomes]
rs34997080	1.00[ASN][1000 genomes]
rs35220172	1.00[ASN][1000 genomes]
rs35400125	1.00[ASN][1000 genomes]
rs35816439	1.00[ASN][1000 genomes]
rs35843038	1.00[ASN][1000 genomes]
rs37472	1.00[JPT][hapmap]
rs37473	1.00[JPT][hapmap]
rs37477	1.00[JPT][hapmap]
rs37478	1.00[JPT][hapmap]
rs37479	1.00[JPT][hapmap]
rs4720300	1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs4720302	1.00[JPT][hapmap]
rs4723780	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4723781	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4723784	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4723786	1.00[JPT][hapmap]
rs4723787	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4723802	1.00[JPT][hapmap]
rs4723804	1.00[ASN][1000 genomes]
rs6462866	1.00[JPT][hapmap]
rs68175808	0.84[AFR][1000 genomes]
rs6949958	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6951429	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6960945	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6963090	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6967384	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6975410	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6976302	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6976579	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6979423	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73370730	1.00[ASN][1000 genomes]
rs758087	1.00[JPT][hapmap]
rs758088	1.00[ASN][1000 genomes]
rs7782140	1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7782277	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7787423	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7802052	1.00[ASN][1000 genomes]
rs976350	1.00[JPT][hapmap]
rs976352	1.00[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	nsv887965	chr7:38706384-38793243	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs757685	VPS41	Cis_1M	lymphoblastoid	RTeQTL
rs757685	VPS41	cis	cerebellum	SCAN
rs757685	VPS41	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38749000-38803600	Weak transcription	Fetal Brain Male	brain
2	chr7:38755000-38791200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:38757000-38784200	Weak transcription	HMEC	breast
4	chr7:38757200-38835400	Weak transcription	Psoas Muscle	Psoas
5	chr7:38758600-38780600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:38758800-38780000	Weak transcription	Brain Substantia Nigra	brain
7	chr7:38759200-38810200	Weak transcription	A549	lung
8	chr7:38759400-38810600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:38759600-38779600	Weak transcription	Thymus	Thymus
10	chr7:38759600-38784200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:38759800-38780600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:38760000-38799800	Weak transcription	HUVEC	blood vessel
13	chr7:38760600-38800200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr7:38761000-38820400	Weak transcription	Stomach Mucosa	stomach
15	chr7:38761200-38785400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:38762600-38793200	Weak transcription	Hela-S3	cervix
17	chr7:38763200-38828000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:38763400-38780400	Weak transcription	Fetal Kidney	kidney
19	chr7:38763400-38792600	Weak transcription	Small Intestine	intestine
20	chr7:38763400-38828800	Weak transcription	HepG2	liver
21	chr7:38763800-38791600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr7:38764400-38787600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:38764800-38784200	Weak transcription	NHEK	skin
24	chr7:38765400-38784200	Weak transcription	NHLF	lung
25	chr7:38765400-38789600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:38765400-38802800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:38765600-38779600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:38765600-38779600	Weak transcription	Spleen	Spleen
29	chr7:38765600-38784200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:38765600-38784400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:38766000-38784200	Weak transcription	NH-A	brain
32	chr7:38766000-38791800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr7:38766200-38780000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr7:38766200-38783400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:38766600-38780600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:38766600-38782600	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:38766600-38791600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:38766800-38784200	Weak transcription	NHDF-Ad	bronchial
39	chr7:38767000-38779200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:38767200-38779800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr7:38767200-38779800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr7:38767200-38780200	Weak transcription	Ovary	ovary
43	chr7:38767200-38780400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:38767200-38792600	Weak transcription	Colonic Mucosa	Colon
45	chr7:38767200-38802800	Weak transcription	Right Ventricle	heart
46	chr7:38767200-38805800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:38767400-38775600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr7:38767400-38779600	Weak transcription	Dnd41	blood
49	chr7:38767600-38780400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:38767800-38780200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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