Variant report

Variant	rs9755930
Chromosome Location	chr3:112022870-112022871
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr3:112022832-112023122	GM12878	blood:	n/a	n/a
2	JUND	chr3:112021224-112022933	H1-hESC	embryonic stem cell:	n/a	n/a
3	FOSL1	chr3:112022580-112023038	H1-hESC	embryonic stem cell:	n/a	n/a
4	TBP	chr3:112021868-112022946	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr3:112022840-112022990	HPF	lung:	n/a	n/a
6	SIN3A	chr3:112021596-112022928	H1-hESC	embryonic stem cell:	n/a	n/a
7	MTA3	chr3:112022028-112022895	GM12878	blood:	n/a	n/a
8	FOSL1	chr3:112022657-112022960	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr3:112022647-112022879	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr3:112022720-112022870	HCPEpiC	choroid plexus:	n/a	n/a
11	SP1	chr3:112021863-112023047	H1-hESC	embryonic stem cell:	n/a	chr3:112022141-112022152
12	POLR2A	chr3:112022135-112023055	GM12892	blood:	n/a	n/a
13	GTF2F1	chr3:112022860-112023009	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAZ	chr3:112022868-112022939	GM12878	blood:	n/a	n/a
15	ZNF143	chr3:112022689-112022900	Hela-S3	cervix:	n/a	n/a
16	TAF1	chr3:112022669-112022943	GM12878	blood:	n/a	n/a
17	CHD2	chr3:112021818-112022916	H1-hESC	embryonic stem cell:	n/a	n/a
18	YY1	chr3:112022689-112023199	GM12891	blood:	n/a	n/a
19	ZNF143	chr3:112022480-112022965	GM12878	blood:	n/a	n/a
20	SPI1	chr3:112022697-112022995	GM12891	blood:	n/a	n/a
21	ZNF143	chr3:112021133-112023008	H1-hESC	embryonic stem cell:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000239482	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12106967	0.83[ASN][1000 genomes]
rs13069751	0.91[ASN][1000 genomes]
rs13069935	0.99[ASN][1000 genomes]
rs13070091	0.99[ASN][1000 genomes]
rs1317243	0.92[ASN][1000 genomes]
rs1879513	0.99[ASN][1000 genomes]
rs1879514	0.94[ASN][1000 genomes]
rs4682101	0.92[ASN][1000 genomes]
rs6438064	0.99[ASN][1000 genomes]
rs6438065	0.99[ASN][1000 genomes]
rs6762106	0.99[ASN][1000 genomes]
rs6773206	0.99[ASN][1000 genomes]
rs6780745	0.98[ASN][1000 genomes]
rs6787547	0.98[ASN][1000 genomes]
rs6798354	0.99[ASN][1000 genomes]
rs6798486	0.99[ASN][1000 genomes]
rs6805117	0.99[ASN][1000 genomes]
rs6805142	0.97[ASN][1000 genomes]
rs6808365	0.98[ASN][1000 genomes]
rs8179913	0.99[ASN][1000 genomes]
rs9814721	0.99[ASN][1000 genomes]
rs9823309	0.98[ASN][1000 genomes]
rs9852176	0.99[ASN][1000 genomes]
rs9856838	0.99[ASN][1000 genomes]
rs9876973	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv10307	chr3:111903974-112087686	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv3949	chr3:111998512-112044060	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv967052	chr3:112020436-112027937	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112021000-112023000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr3:112021200-112023400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
3	chr3:112021400-112023000	Active TSS	Brain Cingulate Gyrus	brain
4	chr3:112021400-112023200	Active TSS	Colon Smooth Muscle	Colon
5	chr3:112021400-112023200	Flanking Active TSS	Fetal Thymus	thymus
6	chr3:112021400-112023400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr3:112021400-112025200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:112021600-112023000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr3:112021600-112023000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:112021600-112023000	Active TSS	Right Atrium	heart
11	chr3:112021600-112023200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:112021600-112023400	Active TSS	Fetal Brain Female	brain
13	chr3:112021600-112023400	Active TSS	Rectal Smooth Muscle	rectum
14	chr3:112021600-112023600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr3:112021800-112023000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:112021800-112023000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:112021800-112023000	Active TSS	Aorta	Aorta
18	chr3:112021800-112023000	Active TSS	Placenta	Placenta
19	chr3:112021800-112023200	Active TSS	Colonic Mucosa	Colon
20	chr3:112021800-112023400	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr3:112021800-112023400	Active TSS	Left Ventricle	heart
22	chr3:112021800-112023400	Flanking Active TSS	HUVEC	blood vessel
23	chr3:112021800-112023600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:112021800-112023600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr3:112021800-112023600	Enhancers	Lung	lung
26	chr3:112021800-112023600	Active TSS	Psoas Muscle	Psoas
27	chr3:112022000-112023000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:112022000-112023000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:112022000-112023000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr3:112022000-112023000	Active TSS	Fetal Lung	lung
31	chr3:112022000-112023200	Enhancers	Liver	Liver
32	chr3:112022000-112023200	Active TSS	Brain Hippocampus Middle	brain
33	chr3:112022000-112023200	Active TSS	Fetal Intestine Large	intestine
34	chr3:112022000-112023200	Active TSS	Fetal Muscle Trunk	muscle
35	chr3:112022000-112023400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr3:112022000-112023400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr3:112022000-112023400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:112022000-112023400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:112022000-112023400	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr3:112022000-112023400	Active TSS	Fetal Kidney	kidney
41	chr3:112022000-112023400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr3:112022000-112023600	Active TSS	Fetal Intestine Small	intestine
43	chr3:112022200-112023000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:112022200-112023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr3:112022200-112023000	Active TSS	Fetal Brain Male	brain
46	chr3:112022200-112023000	Active TSS	Right Ventricle	heart
47	chr3:112022200-112023000	Active TSS	HSMM	muscle
48	chr3:112022200-112023000	Flanking Active TSS	NHEK	skin
49	chr3:112022200-112023200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr3:112022200-112023200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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