Variant report

Variant	rs6714957
Chromosome Location	chr2:86777965-86777966
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	chr2:86777618..86781081-chr2:86786996..86791051,3	K562	blood:

Variant related genes	Relation type
ENSG00000228363	Chromatin interaction
ENSG00000115561	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1036940	0.84[ASN][1000 genomes]
rs12995117	0.84[ASN][1000 genomes]
rs2044230	0.80[ASN][1000 genomes]
rs218060	0.96[ASN][1000 genomes]
rs2367575	0.80[ASN][1000 genomes]
rs308907	0.96[ASN][1000 genomes]
rs396354	0.96[ASN][1000 genomes]
rs4832290	0.80[ASN][1000 genomes]
rs4832293	0.80[ASN][1000 genomes]
rs4832294	0.80[ASN][1000 genomes]
rs4832298	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6714826	0.84[ASN][1000 genomes]
rs683139	1.00[ASN][1000 genomes]
rs966477	0.80[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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv829488	chr2:86769108-86780946	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6714957	VPS24	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86734000-86784800	Weak transcription	Osteobl	bone
2	chr2:86737400-86788400	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:86737800-86779600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr2:86753800-86788400	Weak transcription	HSMM	muscle
5	chr2:86756000-86788400	Weak transcription	Brain Anterior Caudate	brain
6	chr2:86756600-86779000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:86756600-86779000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:86756600-86784800	Weak transcription	Left Ventricle	heart
9	chr2:86756600-86789200	Weak transcription	Aorta	Aorta
10	chr2:86756800-86779400	Weak transcription	NHDF-Ad	bronchial
11	chr2:86761200-86788600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:86761200-86788800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:86761400-86779400	Weak transcription	NHEK	skin
14	chr2:86764600-86779600	Weak transcription	HMEC	breast
15	chr2:86768200-86785000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:86768800-86780000	Weak transcription	Small Intestine	intestine
17	chr2:86768800-86784200	Weak transcription	Psoas Muscle	Psoas
18	chr2:86768800-86785200	Weak transcription	Stomach Mucosa	stomach
19	chr2:86769400-86785600	Weak transcription	Fetal Heart	heart
20	chr2:86770000-86779000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:86771200-86788400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:86771400-86779000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr2:86771400-86786200	Weak transcription	HSMMtube	muscle
24	chr2:86772200-86779000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr2:86772800-86778200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:86773000-86779000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:86773200-86781400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:86773400-86784200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:86773600-86779600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
30	chr2:86773800-86778000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
31	chr2:86774200-86788200	Weak transcription	Adipose Nuclei	Adipose
32	chr2:86774400-86788800	Weak transcription	Fetal Lung	lung
33	chr2:86774600-86788200	Weak transcription	Hela-S3	cervix
34	chr2:86774800-86778600	Weak transcription	Primary B cells from cord blood	blood
35	chr2:86774800-86778600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:86774800-86785200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:86775000-86779600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:86775200-86782600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr2:86775200-86784200	Weak transcription	A549	lung
40	chr2:86775200-86784800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:86775200-86785200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:86775200-86788200	Weak transcription	K562	blood
43	chr2:86775200-86788800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:86775400-86778000	Weak transcription	Primary T cells from cord blood	blood
45	chr2:86775400-86782800	Weak transcription	HepG2	liver
46	chr2:86775800-86778000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:86775800-86778600	ZNF genes & repeats	Fetal Intestine Small	intestine
48	chr2:86775800-86779800	ZNF genes & repeats	Fetal Intestine Large	intestine
49	chr2:86776000-86778000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
50	chr2:86776000-86778600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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