Variant report

Variant	rs4747348
Chromosome Location	chr10:18795055-18795056
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:18794519..18796666-chr10:18946049..18948877,2	K562	blood:
2	chr10:18794828..18796940-chr10:18797729..18800286,2	K562	blood:
3	chr10:18793403..18796112-chr10:18802210..18804458,2	K562	blood:
4	chr10:18778153..18780732-chr10:18792844..18795246,2	K562	blood:

Variant related genes	Relation type
ENSG00000152487	Chromatin interaction
ENSG00000165997	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10741086	0.94[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10764584	0.84[CEU][hapmap]
rs10764587	0.84[CEU][hapmap]
rs10828834	0.94[CEU][hapmap]
rs10828879	0.84[CEU][hapmap]
rs10828906	0.88[CEU][hapmap]
rs12416052	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1917823	0.94[CEU][hapmap];0.84[AMR][1000 genomes]
rs4747353	0.85[CEU][hapmap]
rs4748476	0.94[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6482516	0.84[CEU][hapmap]
rs7075678	0.86[CEU][hapmap]
rs7077786	0.89[CEU][hapmap]
rs7082235	0.81[CEU][hapmap]
rs7093907	0.89[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv550042	chr10:18683267-18994583	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18732400-18801600	Weak transcription	Pancreas	Pancrea
2	chr10:18775600-18800600	Weak transcription	Fetal Intestine Large	intestine
3	chr10:18776200-18809400	Weak transcription	Right Ventricle	heart
4	chr10:18776200-18812200	Weak transcription	Right Atrium	heart
5	chr10:18778600-18818200	Weak transcription	Fetal Intestine Small	intestine
6	chr10:18779600-18803200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr10:18781000-18803200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr10:18785400-18808400	Weak transcription	Colon Smooth Muscle	Colon
9	chr10:18786800-18802000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr10:18787400-18807400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr10:18787400-18808200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr10:18787400-18810200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr10:18787600-18803200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr10:18788000-18801800	Weak transcription	Fetal Stomach	stomach
15	chr10:18788200-18808400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr10:18788200-18809600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr10:18789800-18807800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr10:18790400-18796000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr10:18790600-18802000	Weak transcription	Left Ventricle	heart
20	chr10:18790800-18800600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:18790800-18801600	Weak transcription	Liver	Liver
22	chr10:18791000-18807200	Weak transcription	Brain Anterior Caudate	brain
23	chr10:18792400-18825400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr10:18793400-18795400	Enhancers	Fetal Heart	heart
25	chr10:18793800-18798200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr10:18794000-18818400	Weak transcription	Fetal Brain Male	brain
27	chr10:18794600-18795400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr10:18794800-18795200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:18795000-18795200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr10:18795000-18800600	Weak transcription	Ovary	ovary
31	chr10:18795000-18801400	Weak transcription	Fetal Lung	lung
32	chr10:18795000-18803200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr10:18795000-18807200	Weak transcription	Aorta	Aorta

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