Variant report

Variant	rs55745971
Chromosome Location	chr4:76598015-76598016
allele	C/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	CREB1	chr4:76597601-76599333	HepG2	liver:	n/a	n/a
2	POLR2A	chr4:76597601-76599571	K562	blood:	n/a	n/a
3	MAX	chr4:76597548-76599313	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr4:76597646-76599115	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:76597697-76599412	NB4	blood:	n/a	n/a
6	POLR2A	chr4:76597188-76599596	PBDE	blood:	n/a	n/a
7	ZNF143	chr4:76597859-76599049	H1-hESC	embryonic stem cell:	n/a	chr4:76598365-76598383 chr4:76598174-76598193 chr4:76598170-76598188 chr4:76598610-76598620
8	IRF1	chr4:76597750-76599470	K562	blood:	n/a	chr4:76597806-76597826 chr4:76598592-76598606 chr4:76598673-76598682 chr4:76597958-76597978 chr4:76598781-76598794
9	HEY1	chr4:76597956-76599534	K562	blood:	n/a	chr4:76598825-76598834
10	CHD2	chr4:76597033-76599783	K562	blood:	n/a	chr4:76597896-76597906
11	TAF1	chr4:76597450-76599200	H1-hESC	embryonic stem cell:	n/a	n/a
12	MYC	chr4:76597980-76599314	A549	lung:	n/a	n/a
13	ATF2	chr4:76597638-76599141	GM12878	blood:	n/a	n/a
14	YY1	chr4:76597579-76598205	ECC-1	luminal epithelium:	n/a	n/a
15	E2F4	chr4:76597332-76599059	MCF10A-Er-Src	breast:	n/a	chr4:76598673-76598682 chr4:76598825-76598834 chr4:76597468-76597479 chr4:76597786-76597796
16	ELF1	chr4:76597568-76599152	GM12878	blood:	n/a	chr4:76598743-76598752 chr4:76598031-76598042
17	MAX	chr4:76597515-76599288	HepG2	liver:	n/a	n/a
18	ZNF143	chr4:76597603-76598084	K562	blood:	n/a	n/a
19	ELF1	chr4:76597705-76599080	SK-N-SH	brain:	n/a	chr4:76598743-76598752 chr4:76598031-76598042
20	SIN3A	chr4:76597898-76599044	GM12878	blood:	n/a	n/a
21	BHLHE40	chr4:76597709-76599309	HepG2	liver:	n/a	n/a
22	STAT5A	chr4:76597158-76599220	GM12878	blood:	n/a	chr4:76598169-76598181
23	REST	chr4:76597517-76599308	H1-neurons	neurons:	n/a	chr4:76598666-76598673
24	RCOR1	chr4:76597611-76599192	K562	blood:	n/a	n/a
25	SPI1	chr4:76597934-76598088	K562	blood:	n/a	chr4:76598030-76598043
26	TBP	chr4:76597474-76599143	K562	blood:	n/a	n/a
27	POLR2A	chr4:76597599-76599556	K562	blood:	n/a	n/a
28	MAX	chr4:76597600-76598079	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr4:76597326-76599181	U87	brain:	n/a	n/a
30	POLR2A	chr4:76597756-76599283	HUVEC	blood vessel:	n/a	n/a
31	MAX	chr4:76597573-76599070	GM12878	blood:	n/a	n/a
32	BRCA1	chr4:76597862-76598027	GM12878	blood:	n/a	n/a
33	POLR2A	chr4:76597771-76599046	HCT-116	colon:	n/a	n/a
34	ELF1	chr4:76597821-76599109	HepG2	liver:	n/a	chr4:76598743-76598752 chr4:76598031-76598042
35	ZMIZ1	chr4:76597336-76599179	K562	blood:	n/a	n/a
36	MAX	chr4:76597531-76599097	K562	blood:	n/a	n/a
37	POLR2A	chr4:76597083-76599672	HepG2	liver:	n/a	n/a
38	YY1	chr4:76597602-76598060	ECC-1	luminal epithelium:	n/a	n/a
39	ELF1	chr4:76597747-76599072	MCF-7	breast:	n/a	chr4:76598743-76598752 chr4:76598031-76598042
40	MYC	chr4:76597516-76598242	MCF10A-Er-Src	breast:	n/a	n/a
41	POU2F2	chr4:76597456-76599096	GM12878	blood:	n/a	n/a
42	POLR2A	chr4:76597623-76599707	GM18505	blood:	n/a	n/a
43	MYC	chr4:76597944-76598099	HepG2	liver:	n/a	n/a
44	MAX	chr4:76597633-76599078	K562	blood:	n/a	n/a
45	RUNX3	chr4:76597404-76599112	GM12878	blood:	n/a	n/a
46	PML	chr4:76597736-76599195	K562	blood:	n/a	n/a
47	RCOR1	chr4:76597663-76598207	GM12878	blood:	n/a	n/a
48	TCF7L2	chr4:76597604-76599097	Hela-S3	cervix:	n/a	n/a
49	MYC	chr4:76597554-76599394	NB4	blood:	n/a	n/a
50	POLR2A	chr4:76597578-76599213	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:76436258..76441363-chr4:76597157..76599917,7	K562	blood:
2	chr4:76597747..76598353-chr6:75994277..75995225,2	Hela-S3	cervix:
3	chr4:76595601..76600505-chr4:76645864..76652704,29	K562	blood:
4	chr19:1269110..1269793-chr4:76597798..76598951,3	Hela-S3	cervix:
5	chr4:76597717..76598408-chr4:76649173..76649798,2	MCF-7	breast:
6	chr4:76580944..76583542-chr4:76596776..76599526,2	MCF-7	breast:
7	chr16:29827509..29828189-chr4:76597732..76598667,2	Hela-S3	cervix:
8	chr4:76596470..76600480-chr4:76647707..76650691,10	MCF-7	breast:
9	chr4:76596286..76601002-chr4:76645864..76652581,23	K562	blood:
10	chr4:76437052..76441363-chr4:76597688..76599751,3	K562	blood:
11	chr4:76597293..76598968-chr4:76860443..76862946,2	K562	blood:
12	chr4:76595422..76600363-chr4:76647674..76651574,9	MCF-7	breast:
13	chr4:76597870..76598826-chr6:112408362..112408880,2	Hela-S3	cervix:
14	chr4:76597989..76600371-chr4:100870169..100871877,2	K562	blood:

Variant related genes	Relation type
G3BP2	TF binding region
ENSG00000263136	Chromatin interaction
ENSG00000112697	Chromatin interaction
ENSG00000099622	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000225793	Chromatin interaction
ENSG00000163743	Chromatin interaction
ENSG00000074935	Chromatin interaction
ENSG00000138744	Chromatin interaction
ENSG00000174796	Chromatin interaction
ENSG00000138768	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000203778	Chromatin interaction
ENSG00000138757	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs324706	1.00[ASN][1000 genomes]
rs59684133	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72647501	0.81[AMR][1000 genomes]
rs72649445	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72649456	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879496	chr4:76493256-76620803	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv879497	chr4:76519096-76620803	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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	chr4:76595400-76599200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr4:76595800-76599400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:76596000-76599000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr4:76596000-76599200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:76596000-76599200	Active TSS	Right Atrium	heart
6	chr4:76596200-76598400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr4:76596200-76598600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:76596200-76599200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:76596400-76599000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:76596400-76599000	Active TSS	A549	lung
11	chr4:76596400-76599200	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr4:76596400-76599200	Active TSS	Psoas Muscle	Psoas
13	chr4:76596400-76599600	Active TSS	H9 Cell Line	embryonic stem cell
14	chr4:76596600-76599000	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr4:76596600-76599000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:76596600-76599000	Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr4:76596600-76599000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:76596600-76599000	Active TSS	Fetal Intestine Small	intestine
19	chr4:76596600-76599200	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr4:76596600-76599200	Active TSS	Colonic Mucosa	Colon
21	chr4:76596600-76599200	Active TSS	HSMMtube	muscle
22	chr4:76596600-76599800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr4:76596800-76598600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:76596800-76598800	Active TSS	Fetal Thymus	thymus
25	chr4:76596800-76599000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:76596800-76599000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:76596800-76599000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:76596800-76599000	Active TSS	Fetal Intestine Large	intestine
29	chr4:76596800-76599000	Active TSS	GM12878-XiMat	blood
30	chr4:76596800-76599000	Active TSS	K562	blood
31	chr4:76596800-76599000	Active TSS	NHDF-Ad	bronchial
32	chr4:76596800-76599000	Active TSS	NHLF	lung
33	chr4:76596800-76599200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr4:76596800-76599200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:76596800-76599200	Active TSS	Aorta	Aorta
36	chr4:76596800-76599200	Active TSS	Right Ventricle	heart
37	chr4:76596800-76599200	Active TSS	Thymus	Thymus
38	chr4:76597000-76598800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:76597000-76599000	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr4:76597000-76599000	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr4:76597000-76599000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:76597000-76599000	Active TSS	Colon Smooth Muscle	Colon
43	chr4:76597000-76599000	Active TSS	Hela-S3	cervix
44	chr4:76597000-76599200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:76597000-76599200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:76597000-76599200	Active TSS	Esophagus	oesophagus
47	chr4:76597000-76599200	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr4:76597000-76599200	Active TSS	Left Ventricle	heart
49	chr4:76597000-76599200	Active TSS	Ovary	ovary
50	chr4:76597000-76599400	Active TSS	Fetal Muscle Trunk	muscle

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