Variant report

Variant	rs10010519
Chromosome Location	chr4:76651353-76651354
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:76648296-76652105	HepG2	liver:	n/a	n/a
2	POLR2A	chr4:76651163-76651517	HepG2	liver:	n/a	n/a
3	ZNF384	chr4:76651334-76651544	GM12878	blood:	n/a	n/a
4	ZNF384	chr4:76651316-76652007	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:76596286..76601002-chr4:76645864..76652581,23	K562	blood:
2	chr4:76649785..76652192-chr4:76726091..76728026,2	K562	blood:
3	chr4:76437150..76439919-chr4:76648856..76651737,3	K562	blood:
4	chr4:76581494..76583599-chr4:76650728..76652351,2	K562	blood:
5	chr4:76580627..76584350-chr4:76648394..76652351,4	K562	blood:
6	chr4:76435978..76441393-chr4:76648372..76651737,6	K562	blood:
7	chr4:76595601..76600505-chr4:76645864..76652704,29	K562	blood:
8	chr4:76584918..76589893-chr4:76647342..76651400,4	K562	blood:
9	chr4:76595422..76600363-chr4:76647674..76651574,9	MCF-7	breast:

No data

Variant related genes	Relation type
G3BP2	TF binding region
ENSG00000163743	Chromatin interaction
ENSG00000174796	Chromatin interaction
ENSG00000138768	Chromatin interaction
ENSG00000138757	Chromatin interaction
ENSG00000201644	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10009902	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10014281	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10028884	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10029110	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11729258	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs226416	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2280095	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2869174	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs324682	0.81[AMR][1000 genomes]
rs324685	0.81[AMR][1000 genomes]
rs324689	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs324692	0.80[EUR][1000 genomes]
rs324695	0.80[EUR][1000 genomes]
rs324707	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs324708	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs324711	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs324715	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs324716	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs324717	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs324718	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs324721	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs324724	0.80[EUR][1000 genomes]
rs324725	0.80[EUR][1000 genomes]
rs324737	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3853184	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3942252	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs436611	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs443952	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4859550	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5020591	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6419115	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6531889	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6531902	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6531903	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6826858	0.81[EUR][1000 genomes]
rs6835819	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6842216	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6855321	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72651313	0.81[AMR][1000 genomes]
rs7356270	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7356310	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7657871	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7662940	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7674063	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7677150	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7691385	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7696241	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 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	chr4:76647400-76652200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr4:76647400-76652600	Active TSS	H1 Cell Line	embryonic stem cell
3	chr4:76647600-76652000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr4:76647600-76652200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr4:76647800-76651600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:76648000-76651600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr4:76648000-76651800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:76648000-76651800	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr4:76648200-76652000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:76648400-76651800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:76648400-76652200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:76648400-76652400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr4:76648600-76651400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:76648600-76651600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr4:76648600-76651600	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr4:76648600-76651600	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr4:76648600-76651800	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr4:76648600-76651800	Active TSS	A549	lung
19	chr4:76648600-76652200	Active TSS	Psoas Muscle	Psoas
20	chr4:76648600-76652600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:76648600-76652600	Active TSS	Aorta	Aorta
22	chr4:76648600-76653200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:76648800-76651400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:76648800-76651400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:76648800-76651400	Active TSS	HMEC	breast
26	chr4:76648800-76651600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:76648800-76651600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:76648800-76651600	Active TSS	Fetal Kidney	kidney
29	chr4:76648800-76651600	Active TSS	Stomach Mucosa	stomach
30	chr4:76648800-76651600	Active TSS	GM12878-XiMat	blood
31	chr4:76648800-76651800	Active TSS	Pancreas	Pancrea
32	chr4:76648800-76651800	Active TSS	NHLF	lung
33	chr4:76648800-76652200	Active TSS	Right Ventricle	heart
34	chr4:76648800-76652400	Active TSS	Ovary	ovary
35	chr4:76649000-76651400	Active TSS	Colonic Mucosa	Colon
36	chr4:76649000-76651400	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr4:76649000-76651400	Active TSS	Fetal Intestine Large	intestine
38	chr4:76649000-76651400	Active TSS	K562	blood
39	chr4:76649000-76651600	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr4:76649000-76651600	Active TSS	HSMM	muscle
41	chr4:76649000-76651600	Active TSS	HSMMtube	muscle
42	chr4:76649000-76651600	Active TSS	NH-A	brain
43	chr4:76649000-76651600	Active TSS	NHDF-Ad	bronchial
44	chr4:76649000-76651800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:76649000-76651800	Active TSS	Fetal Brain Female	brain
46	chr4:76649000-76651800	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr4:76649200-76651400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:76649200-76651400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:76649200-76651400	Active TSS	Gastric	stomach
50	chr4:76649200-76651400	Active TSS	Osteobl	bone

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