Variant report

Variant	rs59876036
Chromosome Location	chr4:57252309-57252310
allele	G/T
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	CEBPB	chr4:57252251-57252726	K562	blood:	n/a	chr4:57252450-57252463 chr4:57252452-57252461
2	CEBPB	chr4:57252279-57252647	HepG2	liver:	n/a	chr4:57252450-57252463 chr4:57252452-57252461
3	CEBPB	chr4:57252273-57252650	Hela-S3	cervix:	n/a	chr4:57252450-57252463 chr4:57252452-57252461
4	CEBPB	chr4:57252215-57252626	MCF-7	breast:	n/a	chr4:57252450-57252463 chr4:57252452-57252461
5	CEBPB	chr4:57252288-57252624	IMR90	lung:	n/a	chr4:57252450-57252463 chr4:57252452-57252461
6	CEBPB	chr4:57252264-57252733	A549	lung:	n/a	chr4:57252450-57252463 chr4:57252452-57252461
7	CEBPB	chr4:57252301-57252609	H1-hESC	embryonic stem cell:	n/a	chr4:57252450-57252463 chr4:57252452-57252461
8	CEBPB	chr4:57252290-57252624	A549	lung:	n/a	chr4:57252450-57252463 chr4:57252452-57252461
9	CEBPB	chr4:57252244-57254192	K562	blood:	n/a	chr4:57252450-57252463 chr4:57252452-57252461 chr4:57253991-57254002

No.	Distal block	Cell Line	Cell type
1	chr4:57245776..57248590-chr4:57250681..57253317,2	MCF-7	breast:
2	chr4:57252171..57255208-chr4:57332200..57335252,5	K562	blood:
3	chr4:57252130..57255932-chr4:57332416..57336369,6	K562	blood:
4	chr4:57251780..57255283-chr4:57300557..57304376,5	MCF-7	breast:
5	chr4:57250870..57256510-chr4:57298204..57303491,14	K562	blood:
6	chr4:57252113..57256281-chr4:57265528..57268374,5	MCF-7	breast:
7	chr4:57251940..57255035-chr4:57332077..57334754,4	MCF-7	breast:
8	chr4:57249593..57251737-chr4:57251842..57253742,2	K562	blood:
9	chr4:57251883..57253946-chr4:57396755..57399062,3	K562	blood:
10	chr4:57251518..57253690-chr4:57313439..57315337,2	K562	blood:
11	chr4:57252051..57253870-chr9:33289300..33291783,2	K562	blood:
12	chr4:57252189..57254981-chr4:57775973..57777493,2	MCF-7	breast:
13	chr4:57250870..57256080-chr4:57298204..57304153,16	K562	blood:
14	chr4:57252303..57254207-chr4:57266105..57268233,2	MCF-7	breast:

Variant related genes	Relation type
AASDH	TF binding region
ENSG00000269921	TF binding region
ENSG00000128050	Chromatin interaction
ENSG00000128059	Chromatin interaction
ENSG00000157426	Chromatin interaction
ENSG00000084093	Chromatin interaction
ENSG00000249693	Chromatin interaction
ENSG00000174780	Chromatin interaction
ENSG00000086102	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10002045	1.00[AMR][1000 genomes]
rs28438730	1.00[AMR][1000 genomes]
rs35420817	1.00[AMR][1000 genomes]
rs56753336	1.00[AMR][1000 genomes]
rs56988045	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57969097	1.00[AMR][1000 genomes]
rs60691650	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6857233	1.00[AMR][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	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv829940	chr4:57072341-57262730	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
5	nsv530121	chr4:57167367-57695576	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57190600-57252400	Weak transcription	Colonic Mucosa	Colon
2	chr4:57202800-57252400	Weak transcription	NHDF-Ad	bronchial
3	chr4:57203000-57252600	Weak transcription	Right Ventricle	heart
4	chr4:57203400-57252400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:57207800-57253000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:57216000-57252400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:57216000-57253000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:57223000-57253200	Weak transcription	Esophagus	oesophagus
9	chr4:57223200-57253200	Weak transcription	Gastric	stomach
10	chr4:57227400-57252400	Weak transcription	NHEK	skin
11	chr4:57229800-57252400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:57229800-57252400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:57229800-57252400	Weak transcription	Brain Germinal Matrix	brain
14	chr4:57229800-57253000	Weak transcription	Ovary	ovary
15	chr4:57229800-57253200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:57229800-57253200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:57232800-57252400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:57232800-57252400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:57232800-57253000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:57235600-57252400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:57236600-57252400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:57236600-57253000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:57236600-57253200	Weak transcription	Lung	lung
24	chr4:57236800-57253000	Weak transcription	Aorta	Aorta
25	chr4:57236800-57253000	Weak transcription	Left Ventricle	heart
26	chr4:57237000-57252400	Weak transcription	Osteobl	bone
27	chr4:57237000-57252600	Weak transcription	Fetal Stomach	stomach
28	chr4:57237200-57252400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:57237600-57252400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr4:57238400-57252400	Weak transcription	HUVEC	blood vessel
31	chr4:57238600-57252400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:57238600-57252400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr4:57239600-57252400	Weak transcription	HSMMtube	muscle
34	chr4:57239800-57252400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr4:57243800-57252400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:57243800-57252400	Weak transcription	HSMM	muscle
37	chr4:57244600-57252400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr4:57246200-57252400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:57247000-57252400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr4:57247200-57252400	Weak transcription	Fetal Intestine Large	intestine
41	chr4:57247400-57252400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr4:57248400-57252400	Weak transcription	Fetal Intestine Small	intestine
43	chr4:57248600-57252400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:57248800-57252400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:57248800-57252400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr4:57248800-57252400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:57249000-57252400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:57249000-57252400	Weak transcription	Fetal Lung	lung
49	chr4:57249200-57252400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:57249200-57252400	Weak transcription	Liver	Liver

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