Variant report

Variant	rs1568850
Chromosome Location	chr7:65392309-65392310
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:65392073..65394377-chr7:65402120..65403797,2	K562	blood:
2	chr7:65385559..65388609-chr7:65390306..65392739,3	K562	blood:
3	chr7:65391954..65395271-chr7:65397113..65402077,6	K562	blood:
4	chr7:65336460..65340357-chr7:65391340..65394578,5	K562	blood:
5	chr7:65391913..65395079-chr7:65403805..65405428,3	K562	blood:
6	chr7:65336460..65340357-chr7:65391688..65394578,4	K562	blood:
7	chr7:65391429..65394258-chr7:65394498..65396137,2	K562	blood:
8	chr7:65375691..65377455-chr7:65390792..65393139,2	MCF-7	breast:
9	chr7:65381261..65383587-chr7:65391011..65392681,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196715	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs313806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35991661	1.00[ASN][1000 genomes]
rs67111830	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429767	chr7:64473713-65415647	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv1020337	chr7:65371505-65449654	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1568850	VKORC1L1	cis	Whole Blood	GTEx
rs1568850	GUSB	cis	Whole Blood	GTEx
rs1568850	ASL	cis	multi-tissue	Pritchard

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65339600-65394400	Weak transcription	HMEC	breast
2	chr7:65345200-65419000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:65357000-65392400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:65358200-65392400	Weak transcription	Primary T cells from cord blood	blood
5	chr7:65364400-65392400	Weak transcription	Left Ventricle	heart
6	chr7:65366400-65406800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:65366800-65403600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:65367800-65394400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:65368800-65403600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:65368800-65418800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:65368800-65419000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:65369600-65403600	Weak transcription	Fetal Stomach	stomach
13	chr7:65369600-65405800	Weak transcription	NHEK	skin
14	chr7:65371600-65392800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:65371800-65392800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:65373000-65403200	Weak transcription	A549	lung
17	chr7:65373800-65424000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:65374800-65402800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:65375000-65418800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:65375400-65396600	Weak transcription	Liver	Liver
21	chr7:65375600-65419800	Weak transcription	HSMMtube	muscle
22	chr7:65376200-65392600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:65377600-65402600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:65379200-65419000	Weak transcription	Fetal Thymus	thymus
25	chr7:65381800-65420200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr7:65382000-65420600	Weak transcription	Primary B cells from cord blood	blood
27	chr7:65382800-65419800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr7:65383200-65419000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:65383800-65419600	Weak transcription	GM12878-XiMat	blood
30	chr7:65384000-65405600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:65384400-65401800	Weak transcription	Dnd41	blood
32	chr7:65385200-65393200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:65385200-65401800	Weak transcription	Fetal Muscle Leg	muscle
34	chr7:65385600-65396800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:65388800-65392400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:65389400-65392400	Weak transcription	Ovary	ovary
37	chr7:65389400-65392400	Weak transcription	Pancreas	Pancrea
38	chr7:65389400-65392600	Weak transcription	Right Atrium	heart
39	chr7:65389400-65396600	Weak transcription	Psoas Muscle	Psoas
40	chr7:65389400-65406000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:65389400-65423800	Weak transcription	Aorta	Aorta
42	chr7:65389600-65392400	Weak transcription	Fetal Heart	heart
43	chr7:65390200-65392400	Weak transcription	Right Ventricle	heart
44	chr7:65390400-65392400	Weak transcription	Fetal Lung	lung
45	chr7:65390400-65403800	Weak transcription	Adipose Nuclei	Adipose
46	chr7:65390400-65419000	Weak transcription	Thymus	Thymus
47	chr7:65390600-65393200	Weak transcription	Fetal Intestine Large	intestine
48	chr7:65390600-65423800	Weak transcription	Gastric	stomach
49	chr7:65390800-65392400	Weak transcription	HepG2	liver
50	chr7:65390800-65395200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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