Variant report

Variant	rs10511396
Chromosome Location	chr3:120363773-120363774
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr3:120363238-120363808	K562	blood:	n/a	n/a
2	MYC	chr3:120363547-120364082	K562	blood:	n/a	n/a
3	CEBPB	chr3:120363642-120363878	K562	blood:	n/a	n/a
4	EP300	chr3:120363369-120364110	K562	blood:	n/a	n/a
5	TBL1XR1	chr3:120363487-120363902	K562	blood:	n/a	n/a
6	POLR2A	chr3:120362268-120363836	HepG2	liver:	n/a	n/a
7	POLR2A	chr3:120363482-120363883	HepG2	liver:	n/a	n/a
8	RCOR1	chr3:120363760-120363791	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:120360281..120364925-chr3:120365201..120370136,9	K562	blood:
2	chr3:120361500..120364085-chr3:120460567..120462504,2	K562	blood:
3	chr3:120361613..120364085-chr3:120460567..120462130,2	K562	blood:
4	chr3:120361046..120363928-chr3:120366924..120370072,3	K562	blood:

No data

Variant related genes	Relation type
HGD	TF binding region
ENSG00000144840	Chromatin interaction
ENSG00000153767	Chromatin interaction
ENSG00000113924	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10511398	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12762	0.84[AMR][1000 genomes]
rs17140408	1.00[JPT][hapmap]
rs17232942	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv3373301	chr3:120273762-120421260	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv877377	chr3:120287683-120426750	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	esv3464294	chr3:120303062-120420810	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	esv3464295	chr3:120303062-120420810	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv829699	chr3:120308332-120484695	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
11	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120346400-120402200	Weak transcription	Gastric	stomach
2	chr3:120347400-120398000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:120355000-120368400	Strong transcription	HepG2	liver
4	chr3:120355600-120364000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr3:120355600-120365200	Weak transcription	Fetal Stomach	stomach
6	chr3:120355600-120371200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:120355800-120368400	Weak transcription	Fetal Intestine Large	intestine
8	chr3:120355800-120369800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr3:120356200-120367000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:120356600-120378200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr3:120356800-120368200	Weak transcription	Fetal Intestine Small	intestine
12	chr3:120358400-120366200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr3:120358600-120369600	Strong transcription	Liver	Liver
14	chr3:120359200-120377600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:120360800-120372200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:120361000-120369600	Weak transcription	Pancreas	Pancrea
17	chr3:120361000-120372000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:120361200-120364000	Weak transcription	Adipose Nuclei	Adipose
19	chr3:120361200-120364000	Weak transcription	HSMM	muscle
20	chr3:120361400-120363800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:120361800-120364000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:120361800-120365200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr3:120361800-120365600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr3:120362000-120363800	Weak transcription	Osteobl	bone
25	chr3:120362000-120367400	Enhancers	K562	blood
26	chr3:120362000-120368600	Weak transcription	A549	lung
27	chr3:120362800-120364200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:120363200-120363800	Enhancers	Stomach Mucosa	stomach
29	chr3:120363600-120364200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr3:120363600-120364400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:120363600-120364400	Enhancers	Right Atrium	heart
32	chr3:120363600-120364600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:120363600-120364600	Enhancers	Ovary	ovary
34	chr3:120363600-120365600	Enhancers	HSMMtube	muscle
35	chr3:120363600-120366200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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