Variant report

Variant	rs61760022
Chromosome Location	chr4:149363584-149363585
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr4:149363252-149364074	K562	blood:	n/a	chr4:149363679-149363689
2	POLR2A	chr4:149363444-149364332	K562	blood:	n/a	n/a
3	POLR2A	chr4:149363391-149364285	HepG2	liver:	n/a	n/a
4	TAF1	chr4:149363224-149364228	ECC-1	luminal epithelium:	n/a	n/a
5	SP1	chr4:149363467-149364056	A549	lung:	n/a	chr4:149363722-149363743 chr4:149363945-149363954 chr4:149363944-149363954 chr4:149363775-149363796 chr4:149363944-149363958 chr4:149363712-149363721
6	CTBP2	chr4:149363124-149364560	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZBTB7A	chr4:149363522-149363645	K562	blood:	n/a	n/a
8	MAX	chr4:149363159-149364222	HUVEC	blood vessel:	n/a	chr4:149363679-149363689
9	EP300	chr4:149362958-149364303	ECC-1	luminal epithelium:	n/a	n/a
10	USF1	chr4:149363422-149363862	A549	lung:	n/a	chr4:149363679-149363690
11	SP4	chr4:149363558-149363946	H1-hESC	embryonic stem cell:	n/a	chr4:149363710-149363726
12	SP1	chr4:149363338-149364272	HCT-116	colon:	n/a	chr4:149364209-149364216 chr4:149363722-149363743 chr4:149363945-149363954 chr4:149364204-149364218 chr4:149363944-149363954 chr4:149363775-149363796 chr4:149363944-149363958 chr4:149363712-149363721
13	YY1	chr4:149363544-149364056	HepG2	liver:	n/a	chr4:149363930-149363944 chr4:149363959-149363970
14	USF1	chr4:149363389-149364204	HCT-116	colon:	n/a	chr4:149363679-149363690
15	CREB1	chr4:149363484-149364236	GM12878	blood:	n/a	n/a
16	SP2	chr4:149363417-149364035	H1-hESC	embryonic stem cell:	n/a	chr4:149363731-149363741
17	POLR2A	chr4:149363404-149364143	Gliobla	brain:	n/a	n/a
18	USF2	chr4:149363489-149363912	GM12878	blood:	n/a	chr4:149363679-149363690
19	POLR2A	chr4:149363213-149364213	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr4:149363164-149364477	ECC-1	luminal epithelium:	n/a	n/a
21	USF1	chr4:149363408-149363921	K562	blood:	n/a	chr4:149363679-149363690
22	SP2	chr4:149363501-149364007	H1-hESC	embryonic stem cell:	n/a	chr4:149363731-149363741
23	CREB1	chr4:149363008-149364094	H1-hESC	embryonic stem cell:	n/a	n/a
24	NFIC	chr4:149362955-149364116	ECC-1	luminal epithelium:	n/a	n/a
25	MAX	chr4:149363051-149364279	MCF-7	breast:	n/a	chr4:149363679-149363689
26	USF1	chr4:149363374-149363858	K562	blood:	n/a	chr4:149363679-149363690 chr4:149363378-149363394
27	MAX	chr4:149363022-149364276	H1-hESC	embryonic stem cell:	n/a	chr4:149363679-149363689
28	TCF7L2	chr4:149363279-149364129	HCT-116	colon:	n/a	n/a
29	MAX	chr4:149363078-149364273	H1-hESC	embryonic stem cell:	n/a	chr4:149363679-149363689
30	POLR2A	chr4:149363469-149364111	NB4	blood:	n/a	n/a
31	USF1	chr4:149363459-149363847	A549	lung:	n/a	chr4:149363679-149363690
32	USF2	chr4:149363511-149363863	Hela-S3	cervix:	n/a	chr4:149363679-149363690
33	MAX	chr4:149363493-149363946	K562	blood:	n/a	chr4:149363679-149363689
34	CHD2	chr4:149363506-149364000	HepG2	liver:	n/a	n/a
35	POLR2A	chr4:149363492-149364047	U87	brain:	n/a	n/a
36	MAX	chr4:149363071-149364237	H1-hESC	embryonic stem cell:	n/a	chr4:149363679-149363689
37	SP1	chr4:149363441-149364022	H1-hESC	embryonic stem cell:	n/a	chr4:149363722-149363743 chr4:149363945-149363954 chr4:149363944-149363954 chr4:149363775-149363796 chr4:149363944-149363958 chr4:149363712-149363721
38	SP1	chr4:149363582-149363988	HepG2	liver:	n/a	chr4:149363722-149363743 chr4:149363945-149363954 chr4:149363944-149363954 chr4:149363775-149363796 chr4:149363944-149363958 chr4:149363712-149363721
39	SIN3AK20	chr4:149363275-149364078	H1-hESC	embryonic stem cell:	n/a	n/a
40	ELF1	chr4:149363282-149364307	GM12878	blood:	n/a	chr4:149363885-149363897
41	USF1	chr4:149363527-149363873	GM12878	blood:	n/a	chr4:149363679-149363690
42	CREB1	chr4:149363498-149364172	K562	blood:	n/a	n/a
43	BHLHE40	chr4:149363158-149364063	HepG2	liver:	n/a	chr4:149363378-149363394
44	ZBTB7A	chr4:149363117-149364467	ECC-1	luminal epithelium:	n/a	chr4:149363386-149363400
45	FOS	chr4:149363544-149363929	MCF10A-Er-Src	breast:	n/a	chr4:149363713-149363722
46	POLR2A	chr4:149363338-149364094	HepG2	liver:	n/a	n/a
47	UBTF	chr4:149363222-149364079	K562	blood:	n/a	n/a
48	NFYA	chr4:149363559-149364057	Hela-S3	cervix:	n/a	chr4:149363778-149363796 chr4:149363783-149363797 chr4:149363725-149363743
49	E2F6	chr4:149363116-149364008	K562	blood:	n/a	chr4:149363882-149363892
50	MAX	chr4:149362990-149364277	HepG2	liver:	n/a	chr4:149363679-149363689

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:149362697..149364605-chr4:149365136..149368529,4	K562	blood:

Variant related genes	Relation type
NR3C2	TF binding region
ENSG00000151623	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10011595	1.00[AMR][1000 genomes]
rs10026826	1.00[AMR][1000 genomes]
rs10029951	1.00[AMR][1000 genomes]
rs10033445	1.00[AMR][1000 genomes]
rs10034617	1.00[AMR][1000 genomes]
rs11099685	1.00[AMR][1000 genomes]
rs28369259	1.00[AMR][1000 genomes]
rs28408757	1.00[AMR][1000 genomes]
rs28452605	1.00[AMR][1000 genomes]
rs28498606	1.00[AMR][1000 genomes]
rs28663510	1.00[AMR][1000 genomes]
rs28696868	1.00[AMR][1000 genomes]
rs28702892	1.00[AMR][1000 genomes]
rs28723458	1.00[AMR][1000 genomes]
rs28798239	1.00[AMR][1000 genomes]
rs28848778	1.00[AMR][1000 genomes]
rs28897121	1.00[AMR][1000 genomes]
rs4087964	1.00[AMR][1000 genomes]
rs4087965	1.00[AMR][1000 genomes]
rs59761460	1.00[AMR][1000 genomes]
rs72950130	1.00[AMR][1000 genomes]
rs72950143	1.00[AMR][1000 genomes]
rs72950148	1.00[AMR][1000 genomes]
rs72950178	1.00[AMR][1000 genomes]
rs72950200	1.00[AMR][1000 genomes]
rs72950201	1.00[AMR][1000 genomes]
rs72951904	1.00[AMR][1000 genomes]
rs72951952	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530433	chr4:149277637-149669181	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv822769	chr4:149359298-149369162	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149360400-149365000	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr4:149360800-149367400	Active TSS	Rectal Smooth Muscle	rectum
3	chr4:149361200-149367000	Active TSS	Duodenum Mucosa	Duodenum
4	chr4:149361200-149367000	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr4:149361400-149367400	Active TSS	Right Atrium	heart
6	chr4:149361600-149367200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr4:149361600-149367200	Active TSS	Sigmoid Colon	Sigmoid Colon
8	chr4:149361800-149364600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:149361800-149364800	Active TSS	Stomach Smooth Muscle	stomach
10	chr4:149361800-149365000	Active TSS	Colonic Mucosa	Colon
11	chr4:149361800-149365000	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr4:149361800-149367000	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr4:149361800-149367200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:149361800-149367400	Active TSS	Ovary	ovary
15	chr4:149361800-149367400	Active TSS	NHLF	lung
16	chr4:149361800-149367600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr4:149362000-149367000	Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr4:149362000-149367000	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr4:149362000-149367200	Active TSS	Brain Anterior Caudate	brain
20	chr4:149362000-149367400	Active TSS	Brain Cingulate Gyrus	brain
21	chr4:149362000-149367600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr4:149362200-149364000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr4:149362200-149364800	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr4:149362200-149367200	Active TSS	Psoas Muscle	Psoas
25	chr4:149362200-149367200	Active TSS	Right Ventricle	heart
26	chr4:149362200-149367400	Active TSS	Brain Substantia Nigra	brain
27	chr4:149362200-149367400	Active TSS	Left Ventricle	heart
28	chr4:149362200-149367600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr4:149362200-149367600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr4:149362400-149363600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:149362400-149364600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:149362400-149365000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:149362400-149367000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
34	chr4:149362400-149367000	Active TSS	Stomach Mucosa	stomach
35	chr4:149362400-149367200	Active TSS	Small Intestine	intestine
36	chr4:149362400-149367400	Active TSS	Aorta	Aorta
37	chr4:149362400-149367600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr4:149362400-149367600	Active TSS	Brain Angular Gyrus	brain
39	chr4:149362600-149364000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:149362600-149364800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:149362600-149367000	Active TSS	Colon Smooth Muscle	Colon
42	chr4:149362600-149367000	Active TSS	Esophagus	oesophagus
43	chr4:149362600-149367000	Active TSS	Gastric	stomach
44	chr4:149362600-149367000	Active TSS	Placenta Amnion	Placenta Amnion
45	chr4:149362600-149367000	Active TSS	HUVEC	blood vessel
46	chr4:149362600-149367400	Active TSS	Pancreas	Pancrea
47	chr4:149362600-149367600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
48	chr4:149362600-149367600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr4:149362600-149367600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr4:149362600-149367600	Active TSS	Fetal Kidney	kidney

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