Variant report

Variant	rs199863006
Chromosome Location	chr4:87855277-87855278
allele	-/TAAG
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	EP300	chr4:87855235-87856363	K562	blood:	n/a	chr4:87856037-87856053 chr4:87855361-87855369
2	IRF3	chr4:87855175-87855368	GM12878	blood:	n/a	chr4:87855197-87855207
3	HCFC1	chr4:87855249-87857912	K562	blood:	n/a	n/a
4	IRF1	chr4:87855042-87856705	K562	blood:	n/a	chr4:87856113-87856127 chr4:87856094-87856108 chr4:87855197-87855207 chr4:87856479-87856493
5	GATA3	chr4:87855249-87855583	T-47D	breast:	n/a	n/a
6	POLR2A	chr4:87855256-87857801	K562	blood:	n/a	n/a
7	CEBPD	chr4:87855264-87857762	K562	blood:	n/a	n/a
8	POLR2A	chr4:87855236-87855627	Hela-S3	cervix:	n/a	n/a
9	TBL1XR1	chr4:87854932-87856388	K562	blood:	n/a	n/a
10	CTCF	chr4:87855200-87855350	NHLF	lung:	n/a	n/a
11	NR2F2	chr4:87855162-87856816	K562	blood:	n/a	n/a
12	MYC	chr4:87855259-87858147	K562	blood:	n/a	chr4:87856044-87856054 chr4:87856093-87856103
13	CREB1	chr4:87855101-87855676	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr4:87855185-87857924	K562	blood:	n/a	n/a
15	MAZ	chr4:87855096-87858341	GM12878	blood:	n/a	chr4:87856044-87856054 chr4:87856093-87856103
16	POLR2A	chr4:87855229-87858074	HL-60	blood:	n/a	n/a
17	MAZ	chr4:87855240-87857874	K562	blood:	n/a	chr4:87856044-87856054 chr4:87856093-87856103
18	POLR2A	chr4:87854895-87858502	GM12891	blood:	n/a	n/a
19	NR2F2	chr4:87855257-87856508	K562	blood:	n/a	n/a
20	GATA1	chr4:87855196-87856429	PBDE	blood:	n/a	n/a
21	TBP	chr4:87855152-87856082	Hela-S3	cervix:	n/a	n/a
22	ATF1	chr4:87855236-87856071	K562	blood:	n/a	n/a
23	FOXM1	chr4:87855277-87856426	GM12878	blood:	n/a	n/a
24	SIN3A	chr4:87855244-87857900	H1-hESC	embryonic stem cell:	n/a	chr4:87856047-87856060 chr4:87855427-87855437
25	CREB1	chr4:87855184-87855571	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr4:87855069-87858042	K562	blood:	n/a	n/a
27	ZC3H11A	chr4:87855004-87856001	K562	blood:	n/a	n/a
28	POLR2A	chr4:87855262-87857590	U87	brain:	n/a	n/a
29	POLR2A	chr4:87855228-87857887	K562	blood:	n/a	n/a
30	PML	chr4:87855220-87858004	GM12878	blood:	n/a	chr4:87857425-87857434
31	POLR2A	chr4:87854677-87858857	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr4:87855274-87857969	Hela-S3	cervix:	n/a	n/a
33	MAZ	chr4:87855268-87857680	IMR90	lung:	n/a	chr4:87856044-87856054 chr4:87856093-87856103
34	MXI1	chr4:87855248-87857976	IMR90	lung:	n/a	n/a
35	TEAD4	chr4:87855205-87856667	K562	blood:	n/a	n/a
36	CREB1	chr4:87855128-87856607	GM12878	blood:	n/a	n/a
37	STAT5A	chr4:87855237-87856986	GM12878	blood:	n/a	n/a
38	JUN	chr4:87854283-87858230	K562	blood:	n/a	chr4:87858106-87858115 chr4:87857423-87857432 chr4:87857427-87857435 chr4:87857424-87857433
39	MYC	chr4:87855277-87857896	NB4	blood:	n/a	chr4:87856044-87856054 chr4:87856093-87856103
40	HCFC1	chr4:87855064-87858107	Hela-S3	cervix:	n/a	n/a
41	ARID3A	chr4:87854949-87856353	K562	blood:	n/a	n/a
42	POLR2A	chr4:87855236-87858050	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr4:87855200-87857907	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr4:87854999-87857944	K562	blood:	n/a	n/a
45	MTA3	chr4:87855171-87858001	GM12878	blood:	n/a	n/a
46	POLR2A	chr4:87855274-87857932	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:87854791..87857074-chr4:87968149..87971029,2	K562	blood:
2	chr4:87854638..87857344-chr4:88139505..88141852,2	K562	blood:
3	chr4:87845889..87863516-chr4:87925389..87935181,79	K562	blood:
4	chr4:87855268..87857472-chr4:88140405..88143113,3	MCF-7	breast:
5	chr4:87853595..87871697-chr4:87924007..87941983,77	K562	blood:
6	chr4:87853395..87861870-chr4:87925425..87930611,18	MCF-7	breast:
7	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87842600-87855400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:87846400-87855400	Weak transcription	Gastric	stomach
3	chr4:87849600-87855400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:87849800-87855400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:87849800-87855400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:87849800-87855400	Weak transcription	Esophagus	oesophagus
7	chr4:87849800-87855400	Weak transcription	Lung	lung
8	chr4:87849800-87855800	Weak transcription	Spleen	Spleen
9	chr4:87852800-87855400	Weak transcription	Pancreas	Pancrea
10	chr4:87854400-87855400	Enhancers	Liver	Liver
11	chr4:87854400-87855800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:87854600-87857000	Active TSS	Placenta	Placenta
13	chr4:87854800-87855400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr4:87854800-87855400	Enhancers	Primary B cells from peripheral blood	blood
15	chr4:87854800-87855400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr4:87854800-87855600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:87854800-87855600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:87854800-87855800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr4:87854800-87855800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:87854800-87855800	Flanking Active TSS	Dnd41	blood
21	chr4:87854800-87856000	Active TSS	Right Atrium	heart
22	chr4:87854800-87856400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:87854800-87857000	Active TSS	K562	blood
24	chr4:87854800-87858600	Active TSS	Right Ventricle	heart
25	chr4:87854800-87859200	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr4:87855000-87855400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr4:87855000-87855400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr4:87855000-87855400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr4:87855000-87855400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:87855000-87855400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:87855000-87855400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr4:87855000-87855400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:87855000-87855400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:87855000-87855400	Flanking Active TSS	Fetal Lung	lung
35	chr4:87855000-87855400	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr4:87855000-87855400	Enhancers	Small Intestine	intestine
37	chr4:87855000-87855600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:87855000-87855600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr4:87855000-87855600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr4:87855000-87855600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr4:87855000-87855600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr4:87855000-87855600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr4:87855000-87855600	Flanking Active TSS	NHEK	skin
44	chr4:87855000-87855800	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr4:87855000-87855800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr4:87855000-87855800	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr4:87855000-87855800	Flanking Active TSS	HUVEC	blood vessel
48	chr4:87855000-87856800	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr4:87855000-87857000	Active TSS	Stomach Smooth Muscle	stomach
50	chr4:87855000-87857400	Active TSS	iPS-18 Cell Line	embryonic stem cell

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