Variant report

Variant	rs35619560
Chromosome Location	chr2:85695458-85695459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85664864..85667831-chr2:85693184..85696110,2	K562	blood:
2	chr2:85635544..85709381-chr2:85757395..85791508,633	K562	blood:
3	chr2:85695182..85700475-chr2:85771258..85775492,7	K562	blood:
4	chr2:85693140..85697002-chr2:85763876..85768390,8	K562	blood:
5	chr2:85688025..85690495-chr2:85693950..85697263,3	K562	blood:

Variant related genes	Relation type
ENSG00000168906	Chromatin interaction
ENSG00000118640	Chromatin interaction
ENSG00000115486	Chromatin interaction
ENSG00000266577	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11684647	0.95[ASN][1000 genomes]
rs11695848	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34052656	0.95[ASN][1000 genomes]
rs34619872	0.84[ASN][1000 genomes]
rs55846016	0.95[ASN][1000 genomes]
rs58287896	0.95[ASN][1000 genomes]
rs72938532	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005351	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
2	nsv535803	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
3	nsv834283	chr2:85609500-85755708	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35619560	VAMP8	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85687000-85695600	Weak transcription	NHDF-Ad	bronchial
2	chr2:85693400-85701400	Enhancers	Fetal Intestine Small	intestine
3	chr2:85693800-85695800	Enhancers	Hela-S3	cervix
4	chr2:85694200-85696800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr2:85694400-85696400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:85694400-85696800	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:85694400-85700600	Enhancers	Fetal Intestine Large	intestine
8	chr2:85694800-85696200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:85694800-85696600	Enhancers	Stomach Mucosa	stomach
10	chr2:85695000-85695800	Enhancers	K562	blood
11	chr2:85695000-85696200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:85695000-85696400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:85695000-85696400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:85695000-85696400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:85695000-85696400	Enhancers	Placenta	Placenta
16	chr2:85695000-85697200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:85695000-85697400	Enhancers	Pancreas	Pancrea
18	chr2:85695200-85695600	Enhancers	Small Intestine	intestine
19	chr2:85695200-85695800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:85695200-85695800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr2:85695200-85696000	Enhancers	Primary hematopoietic stem cells	blood
22	chr2:85695200-85696000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr2:85695200-85696000	Enhancers	HSMM	muscle
24	chr2:85695200-85696200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:85695200-85696200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr2:85695200-85696200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:85695200-85696200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:85695200-85696200	Enhancers	Colon Smooth Muscle	Colon
29	chr2:85695200-85696200	Enhancers	Fetal Muscle Leg	muscle
30	chr2:85695200-85696200	Enhancers	Fetal Stomach	stomach
31	chr2:85695200-85696200	Flanking Active TSS	A549	lung
32	chr2:85695200-85696400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:85695200-85696400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:85695200-85696400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:85695200-85696400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:85695200-85696400	Enhancers	Esophagus	oesophagus
37	chr2:85695200-85696400	Enhancers	Fetal Muscle Trunk	muscle
38	chr2:85695200-85696400	Enhancers	HMEC	breast
39	chr2:85695200-85696600	Flanking Active TSS	HepG2	liver
40	chr2:85695200-85697800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:85695200-85700800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:85695400-85695600	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr2:85695400-85695800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:85695400-85696000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:85695400-85696000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:85695400-85696000	Enhancers	Right Ventricle	heart
47	chr2:85695400-85696000	Enhancers	Stomach Smooth Muscle	stomach
48	chr2:85695400-85696200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:85695400-85696200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr2:85695400-85696200	Flanking Active TSS	Liver	Liver

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