Variant report

Variant	rs62330278
Chromosome Location	chr4:144106009-144106010
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	ELF1	chr4:144105620-144106346	HepG2	liver:	n/a	chr4:144106051-144106064 chr4:144106052-144106063
2	IRF1	chr4:144105206-144106285	K562	blood:	n/a	chr4:144106050-144106059
3	POLR2A	chr4:144105629-144106396	A549	lung:	n/a	n/a
4	TBL1XR1	chr4:144104684-144106232	K562	blood:	n/a	n/a
5	ELF1	chr4:144105597-144106442	HepG2	liver:	n/a	chr4:144106415-144106427 chr4:144106338-144106347 chr4:144106051-144106064 chr4:144106052-144106063
6	GABPA	chr4:144105958-144106315	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr4:144105387-144106458	GM12891	blood:	n/a	n/a
8	ELK1	chr4:144105520-144106365	GM12878	blood:	n/a	n/a
9	REST	chr4:144105976-144106269	PFSK-1	brain:	n/a	n/a
10	TBP	chr4:144105422-144107136	HepG2	liver:	n/a	n/a
11	POLR2A	chr4:144105207-144106325	K562	blood:	n/a	n/a
12	CREB1	chr4:144105408-144106098	H1-hESC	embryonic stem cell:	n/a	n/a
13	FOS	chr4:144105665-144106261	MCF10A-Er-Src	breast:	n/a	chr4:144106148-144106159
14	MXI1	chr4:144105472-144106499	GM12878	blood:	n/a	n/a
15	POLR2A	chr4:144105408-144106349	U87	brain:	n/a	n/a
16	POLR2A	chr4:144105228-144106464	ProgFib	skin:	n/a	n/a
17	POLR2A	chr4:144105393-144107163	GM15510	blood:	n/a	n/a
18	POLR2A	chr4:144105188-144107085	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr4:144105408-144106325	U87	brain:	n/a	n/a
20	TAF1	chr4:144105992-144106656	H1-hESC	embryonic stem cell:	n/a	n/a
21	YY1	chr4:144105991-144106419	K562	blood:	n/a	chr4:144106279-144106290 chr4:144106338-144106347 chr4:144106339-144106350 chr4:144106332-144106346
22	SMARCB1	chr4:144105566-144107238	Hela-S3	cervix:	n/a	n/a
23	MAX	chr4:144105386-144106388	NB4	blood:	n/a	n/a
24	TAF1	chr4:144105382-144106386	K562	blood:	n/a	n/a
25	CTCF	chr4:144105960-144106110	GM12869	blood:	n/a	n/a
26	E2F6	chr4:144105676-144106334	K562	blood:	n/a	n/a
27	POLR2A	chr4:144105422-144107131	GM12878	blood:	n/a	n/a
28	POLR2A	chr4:144105500-144106380	HepG2	liver:	n/a	n/a
29	MAFK	chr4:144105343-144106328	Hela-S3	cervix:	n/a	chr4:144106149-144106159
30	FOSL2	chr4:144106003-144106348	MCF-7	breast:	n/a	chr4:144106148-144106159
31	ELF1	chr4:144105520-144106457	SK-N-SH	brain:	n/a	chr4:144106415-144106427 chr4:144106338-144106347 chr4:144106051-144106064 chr4:144106052-144106063
32	RFX5	chr4:144105907-144106190	GM12878	blood:	n/a	n/a
33	MAX	chr4:144105379-144107299	HepG2	liver:	n/a	n/a
34	YY1	chr4:144105515-144107256	HepG2	liver:	n/a	chr4:144106279-144106290 chr4:144106338-144106347 chr4:144106339-144106350 chr4:144106332-144106346
35	MAX	chr4:144105459-144106892	Hela-S3	cervix:	n/a	n/a
36	MAZ	chr4:144105457-144106749	Hela-S3	cervix:	n/a	n/a
37	TAF1	chr4:144105367-144106831	ECC-1	luminal epithelium:	n/a	n/a
38	ELF1	chr4:144105550-144106478	K562	blood:	n/a	chr4:144106415-144106427 chr4:144106338-144106347 chr4:144106461-144106473 chr4:144106051-144106064 chr4:144106052-144106063
39	RELA	chr4:144105409-144106287	GM19099	blood:	n/a	n/a
40	REST	chr4:144105953-144106354	HepG2	liver:	n/a	n/a
41	E2F6	chr4:144105489-144107129	K562	blood:	n/a	chr4:144106336-144106346 chr4:144105593-144105602 chr4:144106359-144106370
42	ZNF384	chr4:144105652-144106269	K562	blood:	n/a	n/a
43	POLR2A	chr4:144105400-144107151	GM19193	blood:	n/a	n/a
44	MAX	chr4:144105482-144106488	MCF-7	breast:	n/a	n/a
45	EP300	chr4:144105418-144106256	GM12878	blood:	n/a	chr4:144106049-144106063 chr4:144106053-144106062
46	POLR2A	chr4:144105468-144106818	HepG2	liver:	n/a	n/a
47	CBX3	chr4:144105369-144106340	K562	blood:	n/a	n/a
48	ZEB1	chr4:144105683-144106396	GM12878	blood:	n/a	n/a
49	BRCA1	chr4:144105327-144106102	Hela-S3	cervix:	n/a	n/a
50	NR2C2	chr4:144105911-144106257	K562	blood:	n/a	chr4:144106083-144106092 chr4:144106208-144106217 chr4:144106078-144106087 chr4:144106079-144106094 chr4:144106081-144106094

No.	Distal block	Cell Line	Cell type
1	chr4:144104818..144107585-chr4:144256509..144260468,4	MCF-7	breast:
2	chr4:144104958..144107554-chr4:144256815..144258504,3	K562	blood:
3	chr19:50093377..50093917-chr4:144105420..144106320,2	HCT-116	colon:
4	chr4:144105629..144108054-chr4:144434549..144436931,4	K562	blood:
5	chr4:144104831..144107773-chr4:144434197..144436489,3	K562	blood:
6	chr1:28974828..28975662-chr4:144105371..144106181,2	HCT-116	colon:
7	chr4:143764792..143768376-chr4:144104488..144107848,3	MCF-7	breast:
8	chr12:7052821..7053654-chr4:144105313..144106161,2	HCT-116	colon:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INPP4B-2	chr4:144105661-144106014	ENSG00000250326.1

Variant related genes	Relation type
USP38	TF binding region
ENSG00000250326	TF binding region
ENSG00000109458	Chromatin interaction
ENSG00000109452	Chromatin interaction
ENSG00000153147	Chromatin interaction
ENSG00000178972	Chromatin interaction
ENSG00000142546	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000238923	Chromatin interaction
ENSG00000245112	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10001113	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10002867	0.84[AMR][1000 genomes]
rs10010367	0.86[AMR][1000 genomes]
rs10011709	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10012434	0.84[AMR][1000 genomes]
rs10015190	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10019249	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10029373	0.84[AMR][1000 genomes]
rs1039762	0.84[AMR][1000 genomes]
rs1039763	0.84[AMR][1000 genomes]
rs11100778	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11100780	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11100782	0.80[AMR][1000 genomes]
rs11100783	0.86[AMR][1000 genomes]
rs11724872	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11725565	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11727441	0.86[AMR][1000 genomes]
rs11737209	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11933603	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11940580	0.86[AMR][1000 genomes]
rs11943957	0.83[AMR][1000 genomes]
rs13106497	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13116414	0.80[AMR][1000 genomes]
rs13128884	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13139457	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13140643	0.84[AMR][1000 genomes]
rs1440411	0.81[AMR][1000 genomes]
rs1440416	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1605581	0.86[AMR][1000 genomes]
rs2165302	0.86[AMR][1000 genomes]
rs28592151	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28649839	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34168479	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34664017	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4131029	0.80[AMR][1000 genomes]
rs4132266	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4234886	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4234887	0.80[AMR][1000 genomes]
rs4318600	0.82[AMR][1000 genomes]
rs4407450	0.80[AMR][1000 genomes]
rs4511955	0.84[AMR][1000 genomes]
rs4513514	0.85[AMR][1000 genomes]
rs4574353	0.80[AMR][1000 genomes]
rs4582112	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4637346	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4690775	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4690777	0.80[AMR][1000 genomes]
rs4690779	0.84[AMR][1000 genomes]
rs6537150	0.83[AMR][1000 genomes]
rs6537151	0.84[AMR][1000 genomes]
rs6820538	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6827229	0.84[AMR][1000 genomes]
rs6828369	0.80[AMR][1000 genomes]
rs6837133	0.83[AMR][1000 genomes]
rs7656276	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7670439	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7687417	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9631769	0.82[AMR][1000 genomes]
rs9685571	0.84[AMR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144104400-144109800	Active TSS	K562	blood
2	chr4:144104600-144106600	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr4:144104600-144108600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr4:144104600-144109000	Active TSS	Duodenum Mucosa	Duodenum
5	chr4:144104600-144109600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr4:144104800-144106200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:144104800-144108600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:144104800-144108800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:144104800-144108800	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr4:144104800-144109000	Active TSS	Psoas Muscle	Psoas
11	chr4:144104800-144109200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr4:144104800-144109600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr4:144104800-144109600	Active TSS	Fetal Intestine Large	intestine
14	chr4:144104800-144110800	Active TSS	Right Ventricle	heart
15	chr4:144104800-144111000	Active TSS	NHLF	lung
16	chr4:144105000-144106200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:144105000-144106600	Active TSS	Primary T cells fromperipheralblood	blood
18	chr4:144105000-144106600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:144105000-144106800	Active TSS	Fetal Thymus	thymus
20	chr4:144105000-144106800	Active TSS	Stomach Smooth Muscle	stomach
21	chr4:144105000-144107000	Active TSS	Brain Cingulate Gyrus	brain
22	chr4:144105000-144107200	Active TSS	Rectal Smooth Muscle	rectum
23	chr4:144105000-144108600	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr4:144105000-144108800	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr4:144105000-144108800	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr4:144105000-144108800	Active TSS	HMEC	breast
27	chr4:144105000-144109800	Active TSS	NHDF-Ad	bronchial
28	chr4:144105000-144110000	Active TSS	Colonic Mucosa	Colon
29	chr4:144105000-144110400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:144105000-144110400	Active TSS	Fetal Intestine Small	intestine
31	chr4:144105000-144110400	Active TSS	Right Atrium	heart
32	chr4:144105000-144111000	Active TSS	GM12878-XiMat	blood
33	chr4:144105200-144106600	Active TSS	Fetal Muscle Trunk	muscle
34	chr4:144105200-144106600	Active TSS	Placenta	Placenta
35	chr4:144105200-144106600	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr4:144105200-144106800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:144105200-144106800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:144105200-144106800	Active TSS	Fetal Muscle Leg	muscle
39	chr4:144105200-144107000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr4:144105200-144107000	Active TSS	Fetal Brain Female	brain
41	chr4:144105200-144107000	Active TSS	Fetal Lung	lung
42	chr4:144105200-144107000	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr4:144105200-144107200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:144105200-144108000	Active TSS	Fetal Brain Male	brain
45	chr4:144105200-144108200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr4:144105200-144108200	Active TSS	H9 Cell Line	embryonic stem cell
47	chr4:144105200-144108200	Active TSS	Colon Smooth Muscle	Colon
48	chr4:144105200-144108200	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr4:144105200-144108200	Active TSS	Stomach Mucosa	stomach
50	chr4:144105200-144108600	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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