Variant report

Variant	rs367745073
Chromosome Location	chr4:87855495-87855496
allele	-/CTTCTTCCC
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	NFIC	chr4:87855325-87856349	GM12878	blood:	n/a	n/a
2	MYC	chr4:87855333-87855973	MCF10A-Er-Src	breast:	n/a	n/a
3	EP300	chr4:87855235-87856363	K562	blood:	n/a	chr4:87856037-87856053 chr4:87855361-87855369
4	POLR2A	chr4:87855390-87857870	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:87855376-87855755	H1-hESC	embryonic stem cell:	n/a	n/a
6	BRCA1	chr4:87855327-87855947	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr4:87855397-87857921	GM19099	blood:	n/a	n/a
8	HCFC1	chr4:87855249-87857912	K562	blood:	n/a	n/a
9	IRF1	chr4:87855042-87856705	K562	blood:	n/a	chr4:87856113-87856127 chr4:87856094-87856108 chr4:87855197-87855207 chr4:87856479-87856493
10	ATF2	chr4:87855462-87855977	GM12878	blood:	n/a	n/a
11	RFX5	chr4:87855389-87856351	GM12878	blood:	n/a	n/a
12	ZMIZ1	chr4:87855377-87856681	K562	blood:	n/a	n/a
13	POLR2A	chr4:87855314-87857869	NB4	blood:	n/a	n/a
14	GATA3	chr4:87855249-87855583	T-47D	breast:	n/a	n/a
15	POLR2A	chr4:87855410-87857773	GM12878	blood:	n/a	n/a
16	POLR2A	chr4:87855428-87858463	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr4:87855256-87857801	K562	blood:	n/a	n/a
18	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
19	CEBPD	chr4:87855264-87857762	K562	blood:	n/a	n/a
20	MYC	chr4:87855411-87856395	MCF10A-Er-Src	breast:	n/a	chr4:87856044-87856054 chr4:87856093-87856103
21	MAX	chr4:87855356-87857880	Hela-S3	cervix:	n/a	chr4:87856044-87856054 chr4:87856093-87856103
22	TRIM28	chr4:87855339-87856265	K562	blood:	n/a	n/a
23	MYC	chr4:87855279-87858209	K562	blood:	n/a	chr4:87856044-87856054 chr4:87856093-87856103
24	RELA	chr4:87855422-87856382	GM19099	blood:	n/a	n/a
25	MAFK	chr4:87855372-87856336	K562	blood:	n/a	chr4:87855387-87855402
26	POLR2A	chr4:87855365-87858037	PBDE	blood:	n/a	n/a
27	POLR2A	chr4:87855236-87855627	Hela-S3	cervix:	n/a	n/a
28	TBL1XR1	chr4:87854932-87856388	K562	blood:	n/a	n/a
29	POLR2A	chr4:87855300-87856470	K562	blood:	n/a	n/a
30	RCOR1	chr4:87855301-87857823	K562	blood:	n/a	n/a
31	NR2F2	chr4:87855162-87856816	K562	blood:	n/a	n/a
32	RCOR1	chr4:87855450-87856728	K562	blood:	n/a	n/a
33	MYC	chr4:87855259-87858147	K562	blood:	n/a	chr4:87856044-87856054 chr4:87856093-87856103
34	E2F4	chr4:87855443-87856342	MCF10A-Er-Src	breast:	n/a	chr4:87856095-87856104
35	CREB1	chr4:87855101-87855676	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr4:87855185-87857924	K562	blood:	n/a	n/a
37	WRNIP1	chr4:87855353-87855560	GM12878	blood:	n/a	n/a
38	MAZ	chr4:87855096-87858341	GM12878	blood:	n/a	chr4:87856044-87856054 chr4:87856093-87856103
39	POLR2A	chr4:87855393-87855539	ProgFib	skin:	n/a	n/a
40	POLR2A	chr4:87855229-87858074	HL-60	blood:	n/a	n/a
41	RFX5	chr4:87855322-87856391	Hela-S3	cervix:	n/a	n/a
42	MAZ	chr4:87855240-87857874	K562	blood:	n/a	chr4:87856044-87856054 chr4:87856093-87856103
43	POLR2A	chr4:87854895-87858502	GM12891	blood:	n/a	n/a
44	GTF2F1	chr4:87855465-87856331	K562	blood:	n/a	n/a
45	NR2F2	chr4:87855257-87856508	K562	blood:	n/a	n/a
46	ARID3A	chr4:87855400-87855659	HepG2	liver:	n/a	n/a
47	EBF1	chr4:87855405-87856342	GM12878	blood:	n/a	n/a
48	MXI1	chr4:87855472-87857893	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr4:87855362-87856536	HUVEC	blood vessel:	n/a	n/a
50	GATA1	chr4:87855196-87856429	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:87855388..87857616-chr4:87927379..87929131,8	MCF-7	breast:
2	chr4:87854791..87857074-chr4:87968149..87971029,2	K562	blood:
3	chr4:87854638..87857344-chr4:88139505..88141852,2	K562	blood:
4	chr4:87845889..87863516-chr4:87925389..87935181,79	K562	blood:
5	chr4:87855268..87857472-chr4:88140405..88143113,3	MCF-7	breast:
6	chr4:87853595..87871697-chr4:87924007..87941983,77	K562	blood:
7	chr4:87853395..87861870-chr4:87925425..87930611,18	MCF-7	breast:
8	chr4:87854708..87860113-chr4:87926348..87930107,23	MCF-7	breast:

Variant related genes	Relation type
AFF1	TF binding region
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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87849800-87855800	Weak transcription	Spleen	Spleen
2	chr4:87854400-87855800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:87854600-87857000	Active TSS	Placenta	Placenta
4	chr4:87854800-87855600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:87854800-87855600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:87854800-87855800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr4:87854800-87855800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:87854800-87855800	Flanking Active TSS	Dnd41	blood
9	chr4:87854800-87856000	Active TSS	Right Atrium	heart
10	chr4:87854800-87856400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:87854800-87857000	Active TSS	K562	blood
12	chr4:87854800-87858600	Active TSS	Right Ventricle	heart
13	chr4:87854800-87859200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr4:87855000-87855600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:87855000-87855600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr4:87855000-87855600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr4:87855000-87855600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr4:87855000-87855600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr4:87855000-87855600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr4:87855000-87855600	Flanking Active TSS	NHEK	skin
21	chr4:87855000-87855800	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr4:87855000-87855800	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr4:87855000-87855800	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr4:87855000-87855800	Flanking Active TSS	HUVEC	blood vessel
25	chr4:87855000-87856800	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr4:87855000-87857000	Active TSS	Stomach Smooth Muscle	stomach
27	chr4:87855000-87857400	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr4:87855000-87857400	Active TSS	Aorta	Aorta
29	chr4:87855000-87857400	Active TSS	HSMMtube	muscle
30	chr4:87855000-87857800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:87855000-87857800	Active TSS	Brain Angular Gyrus	brain
32	chr4:87855000-87858000	Active TSS	Duodenum Mucosa	Duodenum
33	chr4:87855000-87858000	Active TSS	HMEC	breast
34	chr4:87855000-87858200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr4:87855000-87858400	Active TSS	H9 Cell Line	embryonic stem cell
36	chr4:87855000-87858400	Active TSS	Psoas Muscle	Psoas
37	chr4:87855000-87859000	Active TSS	Colonic Mucosa	Colon
38	chr4:87855000-87859000	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr4:87855000-87859800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:87855200-87855600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:87855200-87855600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr4:87855200-87855600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr4:87855200-87855600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr4:87855200-87855600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:87855200-87855600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr4:87855200-87855600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:87855200-87855600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:87855200-87855600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:87855200-87855600	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr4:87855200-87855600	Flanking Active TSS	Brain Substantia Nigra	brain

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