Variant report

Variant	rs35776719
Chromosome Location	chr2:85817167-85817168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr2:85817131-85817481	HepG2	liver:	n/a	n/a
2	HDAC2	chr2:85817045-85817685	MCF-7	breast:	n/a	n/a
3	POLR2A	chr2:85817140-85817364	HepG2	liver:	n/a	n/a
4	MAX	chr2:85817014-85817865	MCF-7	breast:	n/a	n/a
5	HNF4A	chr2:85817156-85817382	HepG2	liver:	n/a	n/a
6	FOXA1	chr2:85817098-85817493	T-47D	breast:	n/a	n/a
7	MAFK	chr2:85817054-85817391	HepG2	liver:	n/a	chr2:85817170-85817180
8	FOXA1	chr2:85817011-85817574	HepG2	liver:	n/a	n/a
9	REST	chr2:85817100-85817677	HepG2	liver:	n/a	n/a
10	MAX	chr2:85817004-85817686	HepG2	liver:	n/a	n/a
11	MYBL2	chr2:85817002-85817728	HepG2	liver:	n/a	n/a
12	RAD21	chr2:85817137-85817337	HepG2	liver:	n/a	n/a
13	ARID3A	chr2:85817103-85817367	HepG2	liver:	n/a	n/a
14	POLR2A	chr2:85817136-85818259	U87	brain:	n/a	n/a
15	MXI1	chr2:85817106-85817473	HepG2	liver:	n/a	n/a
16	FOXA1	chr2:85816988-85817593	HepG2	liver:	n/a	n/a
17	EP300	chr2:85817060-85817571	HepG2	liver:	n/a	chr2:85817247-85817263
18	MBD4	chr2:85816988-85817651	HepG2	liver:	n/a	n/a
19	FOXA1	chr2:85817001-85817535	HepG2	liver:	n/a	n/a
20	GABPA	chr2:85817013-85817515	MCF-7	breast:	n/a	n/a
21	RXRA	chr2:85817094-85817475	HepG2	liver:	n/a	n/a
22	HNF4A	chr2:85817010-85817457	HepG2	liver:	n/a	n/a
23	MAX	chr2:85817142-85817437	HepG2	liver:	n/a	n/a
24	RAD21	chr2:85817074-85817340	HepG2	liver:	n/a	n/a
25	FOXA1	chr2:85817082-85817499	T-47D	breast:	n/a	n/a
26	POLR2A	chr2:85817121-85817345	HepG2	liver:	n/a	n/a
27	POLR2A	chr2:85817142-85818259	U87	brain:	n/a	n/a
28	MYBL2	chr2:85816994-85817585	HepG2	liver:	n/a	n/a
29	FOXA1	chr2:85817004-85817603	HepG2	liver:	n/a	n/a
30	CEBPB	chr2:85817117-85817494	HepG2	liver:	n/a	n/a
31	RCOR1	chr2:85817003-85818311	IMR90	lung:	n/a	n/a
32	FOXP2	chr2:85817123-85817367	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr2:85817070-85817371	HepG2	liver:	n/a	n/a
34	FOXA2	chr2:85817015-85817519	HepG2	liver:	n/a	n/a
35	MAFK	chr2:85817068-85817411	HepG2	liver:	n/a	chr2:85817170-85817180
36	NFIC	chr2:85816985-85817572	HepG2	liver:	n/a	n/a
37	RCOR1	chr2:85817133-85817349	HepG2	liver:	n/a	n/a
38	HEY1	chr2:85817076-85817476	HepG2	liver:	n/a	n/a
39	NR2F2	chr2:85817007-85817612	MCF-7	breast:	n/a	n/a
40	SP1	chr2:85816970-85817549	HepG2	liver:	n/a	n/a
41	POLR2A	chr2:85816959-85818013	HUVEC	blood vessel:	n/a	n/a
42	FOS	chr2:85817013-85817912	HUVEC	blood vessel:	n/a	chr2:85817366-85817373
43	NFIC	chr2:85817087-85817566	HepG2	liver:	n/a	n/a
44	NR2F2	chr2:85816992-85818568	MCF-7	breast:	n/a	n/a
45	SMC3	chr2:85817120-85817563	HepG2	liver:	n/a	n/a
46	MAFF	chr2:85817041-85817414	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:85767293..85770194-chr2:85815993..85818775,2	MCF-7	breast:
2	chr2:85765298..85767706-chr2:85816811..85818953,3	MCF-7	breast:
3	chr2:85773637..85776007-chr2:85816213..85818634,2	K562	blood:
4	chr2:85786918..85789789-chr2:85816753..85818316,2	K562	blood:
5	chr2:85786482..85790460-chr2:85816178..85820132,9	MCF-7	breast:
6	chr2:85764946..85769175-chr2:85814893..85818821,4	K562	blood:
7	chr2:85787036..85790013-chr2:85817133..85820348,4	MCF-7	breast:
8	chr2:85777404..85779175-chr2:85815499..85818057,2	K562	blood:

No data

Variant related genes	Relation type
VAMP5	TF binding region
ENSG00000168906	Chromatin interaction
ENSG00000115486	Chromatin interaction
ENSG00000118640	Chromatin interaction

rs_ID	r²[population]
rs10166612	0.93[ASN][1000 genomes]
rs10167018	0.82[ASN][1000 genomes]
rs10172793	0.85[ASN][1000 genomes]
rs10179904	0.85[ASN][1000 genomes]
rs10187218	0.93[ASN][1000 genomes]
rs10190585	0.82[ASN][1000 genomes]
rs10196357	0.85[ASN][1000 genomes]
rs10198761	0.93[ASN][1000 genomes]
rs10202828	0.85[ASN][1000 genomes]
rs10496316	0.82[ASN][1000 genomes]
rs12714143	0.85[ASN][1000 genomes]
rs12714144	0.85[ASN][1000 genomes]
rs12714146	0.86[ASN][1000 genomes]
rs12714147	0.93[ASN][1000 genomes]
rs13000511	0.93[ASN][1000 genomes]
rs13387999	0.93[ASN][1000 genomes]
rs13394092	0.93[ASN][1000 genomes]
rs13406611	0.85[ASN][1000 genomes]
rs13406935	0.85[ASN][1000 genomes]
rs13408713	0.85[ASN][1000 genomes]
rs13409377	0.93[ASN][1000 genomes]
rs13421434	0.89[ASN][1000 genomes]
rs13425821	0.93[ASN][1000 genomes]
rs13426038	0.93[ASN][1000 genomes]
rs13429968	0.93[ASN][1000 genomes]
rs13431159	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13431962	0.85[ASN][1000 genomes]
rs13432584	0.93[ASN][1000 genomes]
rs17430670	0.93[ASN][1000 genomes]
rs17508727	0.93[ASN][1000 genomes]
rs17735885	0.85[ASN][1000 genomes]
rs2121397	0.93[ASN][1000 genomes]
rs28398892	0.85[ASN][1000 genomes]
rs28479378	0.82[ASN][1000 genomes]
rs28564788	0.89[ASN][1000 genomes]
rs28800839	0.85[ASN][1000 genomes]
rs28810460	0.85[ASN][1000 genomes]
rs34212016	0.93[ASN][1000 genomes]
rs34214220	0.93[ASN][1000 genomes]
rs34669893	0.85[ASN][1000 genomes]
rs34824628	0.85[ASN][1000 genomes]
rs55892665	0.89[ASN][1000 genomes]
rs56359002	0.93[ASN][1000 genomes]
rs62165899	0.85[ASN][1000 genomes]
rs62165905	0.86[ASN][1000 genomes]
rs62165907	0.89[ASN][1000 genomes]
rs6727614	0.85[ASN][1000 genomes]
rs6732858	0.85[ASN][1000 genomes]
rs71411832	0.82[ASN][1000 genomes]
rs7569073	0.82[ASN][1000 genomes]

SNP	Gene	Cis/trans	Tissue	Source
rs35776719	VAMP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85812400-85818600	Enhancers	Placenta	Placenta
2	chr2:85812400-85818600	Enhancers	Lung	lung
3	chr2:85812600-85819200	Enhancers	Fetal Muscle Leg	muscle
4	chr2:85812600-85821200	Weak transcription	Fetal Heart	heart
5	chr2:85812800-85817200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:85812800-85817800	Enhancers	NHLF	lung
7	chr2:85812800-85818800	Enhancers	Psoas Muscle	Psoas
8	chr2:85812800-85819000	Enhancers	Primary hematopoietic stem cells	blood
9	chr2:85813000-85817200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:85813000-85817200	Weak transcription	Esophagus	oesophagus
11	chr2:85813000-85817200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:85813000-85817400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:85813000-85818200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:85813000-85819600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:85813200-85817200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:85813200-85817400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:85813200-85817400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:85813200-85817800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr2:85813200-85817800	Enhancers	Adipose Nuclei	Adipose
20	chr2:85813200-85821400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:85813400-85817200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr2:85813400-85817200	Weak transcription	HMEC	breast
23	chr2:85813400-85817200	Weak transcription	NHEK	skin
24	chr2:85813400-85817400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:85813400-85817400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:85813400-85817400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:85813400-85818400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:85813400-85819000	Enhancers	Right Atrium	heart
29	chr2:85813600-85821400	Weak transcription	Fetal Intestine Large	intestine
30	chr2:85813800-85820000	Weak transcription	Fetal Intestine Small	intestine
31	chr2:85814000-85821600	Weak transcription	Small Intestine	intestine
32	chr2:85814200-85818800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr2:85814600-85817800	Enhancers	NHDF-Ad	bronchial
34	chr2:85814600-85819400	Enhancers	Fetal Lung	lung
35	chr2:85814600-85819600	Enhancers	Left Ventricle	heart
36	chr2:85814600-85819600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr2:85814800-85817200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:85814800-85817200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:85814800-85817800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr2:85814800-85819400	Enhancers	Brain Hippocampus Middle	brain
41	chr2:85815000-85821400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr2:85815000-85821600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:85815200-85817200	Enhancers	HUVEC	blood vessel
44	chr2:85815200-85818800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr2:85815200-85819000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:85815200-85819000	Weak transcription	Fetal Stomach	stomach
47	chr2:85815200-85819200	Enhancers	Fetal Muscle Trunk	muscle
48	chr2:85815200-85821600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:85815400-85817400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:85815400-85821200	Weak transcription	Dnd41	blood

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