Variant report

Variant	rs11649750
Chromosome Location	chr17:45950022-45950023
allele	G/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:45937572..45940209-chr17:45947764..45950452,2	K562	blood:
2	chr17:45922247..45925799-chr17:45947598..45950911,3	K562	blood:
3	chr17:45922247..45924447-chr17:45948700..45950911,2	K562	blood:
4	chr17:45949402..45954335-chr17:45955513..45959303,4	K562	blood:
5	chr17:45926872..45930538-chr17:45948934..45951348,3	MCF-7	breast:
6	chr17:45949537..45952014-chr17:45960659..45962461,3	MCF-7	breast:
7	chr17:45908736..45910591-chr17:45948228..45950847,2	MCF-7	breast:
8	chr17:45944200..45947403-chr17:45947781..45950408,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000189120	Chromatin interaction
ENSG00000141294	Chromatin interaction
ENSG00000159111	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs11079799	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11871969	0.86[EUR][1000 genomes]
rs2325714	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4793688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4794224	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60123006	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6503897	0.89[EUR][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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11649750	SCRN2	cis	Skin Sun Exposed Lower leg	GTEx
rs11649750	SCRN2	Cis_1M	lymphoblastoid	RTeQTL
rs11649750	SCRN2	cis	Esophagus Mucosa	GTEx
rs11649750	SCRN2	cis	lung	GTEx
rs11649750	OSBPL7	cis	Artery Aorta	GTEx
rs11649750	SCRN2	cis	Muscle Skeletal	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45948800-45951200	Bivalent Enhancer	Fetal Thymus	thymus
2	chr17:45949400-45950200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr17:45949400-45950200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
4	chr17:45949400-45950400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:45949400-45950600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr17:45949400-45950600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr17:45949400-45951000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr17:45949400-45951000	Bivalent Enhancer	Fetal Intestine Small	intestine
9	chr17:45949400-45953200	Enhancers	Primary hematopoietic stem cells	blood
10	chr17:45949600-45950200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr17:45949600-45950200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr17:45949600-45950200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr17:45949600-45950200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr17:45949600-45950200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr17:45949600-45950200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr17:45949600-45950200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:45949600-45950200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr17:45949600-45950200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr17:45949600-45950200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr17:45949600-45950200	Flanking Bivalent TSS/Enh	Osteobl	bone
21	chr17:45949600-45950400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr17:45949600-45950400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr17:45949600-45950400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr17:45949600-45950400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr17:45949600-45950400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr17:45949600-45950400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr17:45949600-45950600	Active TSS	H9 Cell Line	embryonic stem cell
28	chr17:45949600-45950600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:45949600-45950800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr17:45949600-45950800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr17:45949600-45951000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:45949600-45952000	Enhancers	K562	blood
33	chr17:45949800-45950200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr17:45949800-45950200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:45949800-45950200	Enhancers	Esophagus	oesophagus
36	chr17:45949800-45950200	Enhancers	Right Ventricle	heart
37	chr17:45949800-45950200	Flanking Active TSS	HMEC	breast
38	chr17:45949800-45950400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr17:45949800-45950400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr17:45949800-45950400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr17:45949800-45950600	Bivalent Enhancer	Placenta	Placenta
42	chr17:45949800-45950800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr17:45949800-45951000	Bivalent Enhancer	Fetal Intestine Large	intestine
44	chr17:45949800-45951200	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr17:45950000-45950200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
46	chr17:45950000-45950200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:45950000-45950200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr17:45950000-45950200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr17:45950000-45950200	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:45950000-45950200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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