Variant report

Variant	rs112850586
Chromosome Location	chr4:87856601-87856602
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	TCF12	chr4:87855693-87856666	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr4:87855558-87857751	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr4:87855390-87857870	GM12878	blood:	n/a	n/a
4	FOS	chr4:87855842-87856605	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr4:87855746-87857756	GM12878	blood:	n/a	n/a
6	CEBPB	chr4:87856497-87857305	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr4:87855397-87857921	GM19099	blood:	n/a	n/a
8	TCF7L2	chr4:87856233-87857994	Hela-S3	cervix:	n/a	chr4:87857812-87857826 chr4:87857815-87857824 chr4:87857424-87857433
9	STAT3	chr4:87856317-87856673	MCF10A-Er-Src	breast:	n/a	chr4:87856461-87856472 chr4:87856499-87856510
10	POLR2A	chr4:87855795-87857474	MCF-7	breast:	n/a	n/a
11	HCFC1	chr4:87855249-87857912	K562	blood:	n/a	n/a
12	IRF1	chr4:87855042-87856705	K562	blood:	n/a	chr4:87856113-87856127 chr4:87856094-87856108 chr4:87855197-87855207 chr4:87856479-87856493
13	ZNF143	chr4:87856572-87857437	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr4:87855719-87856850	GM12891	blood:	n/a	n/a
15	ZMIZ1	chr4:87855377-87856681	K562	blood:	n/a	n/a
16	POLR2A	chr4:87855314-87857869	NB4	blood:	n/a	n/a
17	CEBPB	chr4:87856536-87857732	K562	blood:	n/a	n/a
18	CEBPB	chr4:87856575-87856895	K562	blood:	n/a	n/a
19	POLR2A	chr4:87856064-87857845	HepG2	liver:	n/a	n/a
20	POLR2A	chr4:87855525-87857861	GM12892	blood:	n/a	n/a
21	POLR2A	chr4:87855410-87857773	GM12878	blood:	n/a	n/a
22	POLR2A	chr4:87855428-87858463	MCF10A-Er-Src	breast:	n/a	n/a
23	RFX5	chr4:87855889-87856616	HepG2	liver:	n/a	n/a
24	POLR2A	chr4:87855256-87857801	K562	blood:	n/a	n/a
25	NRF1	chr4:87855365-87856728	SK-N-SH	brain:	n/a	chr4:87856095-87856104 chr4:87856050-87856059 chr4:87856179-87856190 chr4:87856191-87856202 chr4:87856210-87856221
26	CEBPD	chr4:87855264-87857762	K562	blood:	n/a	n/a
27	ZEB1	chr4:87856492-87856852	GM12878	blood:	n/a	n/a
28	PAX5	chr4:87855799-87856660	GM12892	blood:	n/a	n/a
29	MAX	chr4:87855356-87857880	Hela-S3	cervix:	n/a	chr4:87856044-87856054 chr4:87856093-87856103
30	MYC	chr4:87855279-87858209	K562	blood:	n/a	chr4:87856044-87856054 chr4:87856093-87856103
31	SMARCB1	chr4:87855863-87857650	Hela-S3	cervix:	n/a	chr4:87857424-87857433
32	ZBTB7A	chr4:87856007-87856931	ECC-1	luminal epithelium:	n/a	n/a
33	TAF1	chr4:87856471-87856759	H1-hESC	embryonic stem cell:	n/a	n/a
34	NR2F2	chr4:87855568-87856688	MCF-7	breast:	n/a	n/a
35	POLR2A	chr4:87855365-87858037	PBDE	blood:	n/a	n/a
36	UBTF	chr4:87855748-87856669	K562	blood:	n/a	n/a
37	WRNIP1	chr4:87856196-87857781	GM12878	blood:	n/a	n/a
38	TAF1	chr4:87855767-87856724	HepG2	liver:	n/a	n/a
39	CHD2	chr4:87855840-87857585	K562	blood:	n/a	n/a
40	MXI1	chr4:87855513-87856686	H1-hESC	embryonic stem cell:	n/a	n/a
41	RUNX3	chr4:87855665-87857827	GM12878	blood:	n/a	n/a
42	CEBPB	chr4:87856511-87856905	A549	lung:	n/a	n/a
43	RCOR1	chr4:87855301-87857823	K562	blood:	n/a	n/a
44	ZBTB7A	chr4:87856182-87856862	ECC-1	luminal epithelium:	n/a	n/a
45	CEBPB	chr4:87856184-87857723	IMR90	lung:	n/a	n/a
46	MAX	chr4:87855739-87856799	ECC-1	luminal epithelium:	n/a	chr4:87856044-87856054 chr4:87856093-87856103
47	NR2F2	chr4:87855162-87856816	K562	blood:	n/a	n/a
48	RCOR1	chr4:87855450-87856728	K562	blood:	n/a	n/a
49	POLR2A	chr4:87855649-87857791	Hela-S3	cervix:	n/a	n/a
50	MYC	chr4:87855259-87858147	K562	blood:	n/a	chr4:87856044-87856054 chr4:87856093-87856103

No.	Distal block	Cell Line	Cell type
1	chr4:87855388..87857616-chr4:87927379..87929131,8	MCF-7	breast:
2	chr4:87855810..87856702-chr8:142011115..142011980,2	Hela-S3	cervix:
3	chr4:87854791..87857074-chr4:87968149..87971029,2	K562	blood:
4	chr4:87855884..87856686-chr6:32939572..32940072,2	HCT-116	colon:
5	chr11:62608643..62609622-chr4:87855968..87856688,2	Hela-S3	cervix:
6	chr4:87854638..87857344-chr4:88139505..88141852,2	K562	blood:
7	chr4:87845889..87863516-chr4:87925389..87935181,79	K562	blood:
8	chr4:87855268..87857472-chr4:88140405..88143113,3	MCF-7	breast:
9	chr4:87855994..87856653-chr9:98638123..98638697,2	Hela-S3	cervix:
10	chr4:87853595..87871697-chr4:87924007..87941983,77	K562	blood:
11	chr4:87853395..87861870-chr4:87925425..87930611,18	MCF-7	breast:
12	chr4:87854708..87860113-chr4:87926348..87930107,23	MCF-7	breast:

Variant related genes	Relation type
AFF1	TF binding region
C4orf36	TF binding region
ENSG00000133316	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000182150	Chromatin interaction
ENSG00000175611	Chromatin interaction
ENSG00000169398	Chromatin interaction
ENSG00000145332	Chromatin interaction
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	esv3421759	chr4:87855153-87857701	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr4:87854600-87857000	Active TSS	Placenta	Placenta
2	chr4:87854800-87857000	Active TSS	K562	blood
3	chr4:87854800-87858600	Active TSS	Right Ventricle	heart
4	chr4:87854800-87859200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr4:87855000-87856800	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr4:87855000-87857000	Active TSS	Stomach Smooth Muscle	stomach
7	chr4:87855000-87857400	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr4:87855000-87857400	Active TSS	Aorta	Aorta
9	chr4:87855000-87857400	Active TSS	HSMMtube	muscle
10	chr4:87855000-87857800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:87855000-87857800	Active TSS	Brain Angular Gyrus	brain
12	chr4:87855000-87858000	Active TSS	Duodenum Mucosa	Duodenum
13	chr4:87855000-87858000	Active TSS	HMEC	breast
14	chr4:87855000-87858200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr4:87855000-87858400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr4:87855000-87858400	Active TSS	Psoas Muscle	Psoas
17	chr4:87855000-87859000	Active TSS	Colonic Mucosa	Colon
18	chr4:87855000-87859000	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr4:87855000-87859800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:87855200-87856800	Active TSS	Primary T cells fromperipheralblood	blood
21	chr4:87855200-87857000	Active TSS	Thymus	Thymus
22	chr4:87855200-87857200	Active TSS	Fetal Intestine Small	intestine
23	chr4:87855200-87857400	Active TSS	Fetal Heart	heart
24	chr4:87855200-87857600	Active TSS	Colon Smooth Muscle	Colon
25	chr4:87855200-87857600	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr4:87855200-87857600	Active TSS	NHDF-Ad	bronchial
27	chr4:87855200-87857800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:87855200-87857800	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr4:87855200-87857800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:87855200-87857800	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr4:87855200-87857800	Active TSS	Left Ventricle	heart
32	chr4:87855200-87857800	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr4:87855200-87858200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:87855200-87858200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:87855200-87858200	Active TSS	Brain Hippocampus Middle	brain
36	chr4:87855200-87858200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:87855200-87858200	Active TSS	A549	lung
38	chr4:87855200-87858400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:87855200-87858400	Active TSS	Placenta Amnion	Placenta Amnion
40	chr4:87855200-87858600	Active TSS	Stomach Mucosa	stomach
41	chr4:87855200-87859000	Active TSS	Fetal Intestine Large	intestine
42	chr4:87855200-87859200	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr4:87855200-87859200	Active TSS	H1 Cell Line	embryonic stem cell
44	chr4:87855200-87859800	Active TSS	GM12878-XiMat	blood
45	chr4:87855200-87859800	Active TSS	Hela-S3	cervix
46	chr4:87855400-87856800	Active TSS	Fetal Lung	lung
47	chr4:87855400-87857000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:87855400-87857200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:87855400-87857600	Active TSS	Small Intestine	intestine
50	chr4:87855400-87857800	Active TSS	Esophagus	oesophagus

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