Variant report

Variant	rs4747880
Chromosome Location	chr10:6152967-6152968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:6152883-6152984	K562	blood:	n/a	n/a
2	POLR2A	chr10:6152658-6152977	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6145387..6148219-chr10:6148425..6153843,7	K562	blood:
2	chr10:6152673..6154279-chr10:6185901..6187670,2	MCF-7	breast:
3	chr10:6149017..6157788-chr10:6241652..6246346,17	MCF-7	breast:
4	chr10:6149112..6154904-chr10:6241492..6247373,13	MCF-7	breast:
5	chr10:6150598..6153044-chr10:6184117..6186836,2	K562	blood:
6	chr10:6150619..6154043-chr10:6154851..6158352,3	K562	blood:

No data

Variant related genes	Relation type
RBM17	TF binding region
ENSG00000134453	Chromatin interaction
ENSG00000170525	Chromatin interaction
ENSG00000213994	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10905806	0.89[GIH][hapmap];0.86[TSI][hapmap]
rs12268391	0.85[EUR][1000 genomes]
rs2274358	0.82[TSI][hapmap]
rs2274359	0.82[TSI][hapmap]
rs3930531	0.82[CHB][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap]
rs4749997	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6602450	0.91[TSI][hapmap]

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	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer 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 miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv894815	chr10:6108439-6161781	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1040397	chr10:6129759-6158697	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6137400-6158600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:6138000-6159400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr10:6138200-6159200	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr10:6138400-6154000	Weak transcription	Small Intestine	intestine
5	chr10:6138800-6159200	Strong transcription	Placenta	Placenta
6	chr10:6138800-6159400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:6139000-6154000	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr10:6139000-6156600	Strong transcription	Fetal Muscle Leg	muscle
9	chr10:6139000-6158600	Strong transcription	Fetal Intestine Large	intestine
10	chr10:6139000-6159200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:6139000-6159200	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr10:6139000-6159200	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr10:6139200-6156200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:6139200-6156200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr10:6139200-6156200	Strong transcription	Osteobl	bone
16	chr10:6139200-6156400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:6139600-6155400	Strong transcription	HSMM	muscle
18	chr10:6139600-6156400	Strong transcription	NH-A	brain
19	chr10:6139800-6156200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:6140000-6155800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr10:6140000-6162000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:6140400-6161000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr10:6142000-6156400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:6142200-6158800	Strong transcription	Stomach Smooth Muscle	stomach
25	chr10:6142200-6159400	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr10:6143200-6159400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr10:6144800-6156400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr10:6145400-6158600	Strong transcription	K562	blood
29	chr10:6145600-6156000	Strong transcription	NHDF-Ad	bronchial
30	chr10:6145600-6156000	Strong transcription	NHLF	lung
31	chr10:6145600-6156400	Strong transcription	Fetal Lung	lung
32	chr10:6146000-6154400	Strong transcription	HepG2	liver
33	chr10:6146000-6156200	Strong transcription	HUVEC	blood vessel
34	chr10:6146200-6154000	Weak transcription	Psoas Muscle	Psoas
35	chr10:6146400-6156400	Strong transcription	Adipose Nuclei	Adipose
36	chr10:6146800-6156800	Strong transcription	Ovary	ovary
37	chr10:6147800-6154200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:6148000-6157600	Strong transcription	Thymus	Thymus
39	chr10:6148000-6158800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr10:6148000-6159000	Strong transcription	Brain Germinal Matrix	brain
41	chr10:6148200-6156200	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr10:6148400-6157600	Strong transcription	Fetal Stomach	stomach
43	chr10:6149000-6155600	Strong transcription	Pancreas	Pancrea
44	chr10:6149000-6157600	Strong transcription	Lung	lung
45	chr10:6149200-6155400	Strong transcription	Fetal Intestine Small	intestine
46	chr10:6149600-6154000	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr10:6149600-6156200	Strong transcription	Brain Anterior Caudate	brain
48	chr10:6149800-6156200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr10:6149800-6156400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr10:6149800-6157200	Strong transcription	Fetal Brain Female	brain

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