Variant report

Variant	rs7080649
Chromosome Location	chr10:4731081-4731082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11252656	0.80[ASN][1000 genomes]
rs11252657	0.80[ASN][1000 genomes]
rs11252658	0.80[ASN][1000 genomes]
rs11252660	0.80[ASN][1000 genomes]
rs11252662	0.81[ASN][1000 genomes]
rs12411645	0.85[YRI][hapmap]
rs12572602	0.82[ASN][1000 genomes]
rs1391511	0.89[ASN][1000 genomes]
rs1498272	0.82[ASN][1000 genomes]
rs1498273	0.82[ASN][1000 genomes]
rs17133411	0.82[ASN][1000 genomes]
rs4242771	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs924288	0.82[YRI][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894787	chr10:4385379-4857717	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv1798456	chr10:4689138-4731081	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1817443	chr10:4689138-4731081	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1831014	chr10:4689138-4731081	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1838419	chr10:4689138-4731081	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7080649	ITIH2	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4721200-4733600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:4727000-4731200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:4727200-4733800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr10:4728200-4733600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:4728200-4735600	Weak transcription	Psoas Muscle	Psoas
6	chr10:4728200-4738000	Weak transcription	Fetal Muscle Leg	muscle
7	chr10:4728400-4731800	Weak transcription	Pancreas	Pancrea
8	chr10:4729000-4731200	Enhancers	NHEK	skin
9	chr10:4729000-4731400	Enhancers	HMEC	breast
10	chr10:4729200-4733800	Weak transcription	HSMM	muscle
11	chr10:4729400-4731200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr10:4729400-4731400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:4729400-4731400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr10:4729600-4731200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr10:4729800-4731200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr10:4729800-4733600	Weak transcription	Osteobl	bone
17	chr10:4729800-4733800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:4730000-4733800	Weak transcription	A549	lung
19	chr10:4730000-4733800	Weak transcription	NHDF-Ad	bronchial
20	chr10:4730200-4731800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr10:4730200-4732000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr10:4730200-4733600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:4730400-4731200	Enhancers	Adipose Nuclei	Adipose
24	chr10:4730400-4731400	Enhancers	Dnd41	blood
25	chr10:4730400-4731800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:4730400-4733600	Weak transcription	NH-A	brain
27	chr10:4730600-4731400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr10:4730800-4731200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr10:4730800-4731200	Enhancers	Stomach Mucosa	stomach
30	chr10:4730800-4731400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr10:4730800-4731400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr10:4730800-4731400	Enhancers	Thymus	Thymus
33	chr10:4731000-4731200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr10:4731000-4731200	Enhancers	Left Ventricle	heart
35	chr10:4731000-4731400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr10:4731000-4731600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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