Variant report

Variant	rs2395833
Chromosome Location	chr7:106686448-106686449
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:106682031..106689663-chr7:106807150..106811711,11	K562	blood:
2	chr7:106685168..106686791-chr7:107384430..107386417,2	K562	blood:
3	chr7:106682746..106686911-chr7:106807556..106811745,9	K562	blood:
4	chr7:106685778..106688042-chr7:106804016..106805559,2	MCF-7	breast:
5	chr7:106415431..106417500-chr7:106684365..106686505,2	K562	blood:
6	chr7:106685233..106687642-chr7:106786297..106788782,2	K562	blood:
7	chr7:106685221..106688860-chr7:106786297..106789878,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000241764	Chromatin interaction
ENSG00000105879	Chromatin interaction
ENSG00000105856	Chromatin interaction
ENSG00000228742	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10227616	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12671537	0.81[TSI][hapmap]
rs13243645	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17153738	0.81[TSI][hapmap]
rs2237648	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2536494	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35585362	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62483563	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6946733	1.00[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6957586	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6975038	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs758943	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831087	chr7:106673465-106872460	Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3440198	chr7:106684366-106686514	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2395833	LAMB1	cis	cerebellum	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106684400-106686600	Active TSS	Brain Substantia Nigra	brain
2	chr7:106684400-106686800	Active TSS	Rectal Smooth Muscle	rectum
3	chr7:106684400-106687000	Active TSS	Brain Anterior Caudate	brain
4	chr7:106684400-106687000	Active TSS	Fetal Stomach	stomach
5	chr7:106684400-106687200	Active TSS	Ovary	ovary
6	chr7:106684400-106688400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:106684600-106686600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr7:106684600-106686600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:106684600-106686600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:106684600-106686600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:106684600-106686600	Active TSS	Fetal Kidney	kidney
12	chr7:106684600-106686600	Active TSS	Right Ventricle	heart
13	chr7:106684600-106686800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr7:106684600-106686800	Active TSS	Pancreas	Pancrea
15	chr7:106684600-106687000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr7:106684600-106687400	Active TSS	Brain Angular Gyrus	brain
17	chr7:106684800-106687800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:106685000-106687200	Active TSS	Fetal Brain Female	brain
19	chr7:106685000-106687600	Active TSS	Fetal Brain Male	brain
20	chr7:106685400-106686600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:106685400-106686600	Active TSS	Fetal Heart	heart
22	chr7:106685600-106686800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:106685600-106686800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:106685600-106686800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
25	chr7:106685600-106686800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr7:106685600-106687600	Active TSS	Right Atrium	heart
27	chr7:106685800-106686600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:106685800-106686600	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr7:106685800-106686600	Flanking Active TSS	NH-A	brain
30	chr7:106685800-106686800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:106685800-106686800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr7:106685800-106686800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:106685800-106686800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:106685800-106686800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:106685800-106686800	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr7:106685800-106686800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
37	chr7:106685800-106686800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr7:106686000-106686600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr7:106686000-106686600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:106686000-106686600	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr7:106686000-106686600	Flanking Active TSS	Fetal Lung	lung
42	chr7:106686000-106686800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:106686000-106686800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
44	chr7:106686000-106686800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:106686000-106686800	Enhancers	Esophagus	oesophagus
46	chr7:106686000-106686800	Bivalent Enhancer	Dnd41	blood
47	chr7:106686000-106687000	Active TSS	Brain Germinal Matrix	brain
48	chr7:106686000-106688000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr7:106686200-106686600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
50	chr7:106686200-106686600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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