Variant report

Variant	rs554309753
Chromosome Location	chr4:7000555-7000556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:7000544-7001479	MCF10A-Er-Src	breast:	n/a	n/a
2	ZNF384	chr4:6999881-7001187	K562	blood:	n/a	n/a
3	JUN	chr4:7000457-7001453	K562	blood:	n/a	n/a
4	SP1	chr4:7000533-7001604	HCT-116	colon:	n/a	n/a
5	SP1	chr4:7000512-7001596	HCT-116	colon:	n/a	n/a
6	POLR2A	chr4:6999999-7001560	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7000132..7002859-chr4:7044384..7046741,2	MCF-7	breast:
2	chr4:6999660..7002155-chr4:7043088..7045317,3	MCF-7	breast:
3	chr4:6999677..7002587-chr4:7042055..7044238,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TADA2B-1	chr4:7000502-7000685	ENSG00000187904.3

No data

Variant related genes	Relation type
TBC1D14	TF binding region
ENSG00000173011	Chromatin interaction
ENSG00000173013	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv3358199	chr4:7000551-7004849	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6990400-7008800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:6991000-7021800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:6991400-7000800	Weak transcription	Colonic Mucosa	Colon
4	chr4:6993200-7006800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:6993800-7008400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:6994000-7005200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:6994000-7008600	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:6994000-7035600	Strong transcription	Fetal Stomach	stomach
9	chr4:6994000-7043200	Weak transcription	Right Atrium	heart
10	chr4:6994200-7000600	Strong transcription	Fetal Muscle Leg	muscle
11	chr4:6994200-7035400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:6994400-7000800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:6994400-7000800	Weak transcription	Pancreas	Pancrea
14	chr4:6994400-7001000	Strong transcription	Fetal Muscle Trunk	muscle
15	chr4:6994400-7013400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr4:6994600-7006800	Strong transcription	Stomach Smooth Muscle	stomach
17	chr4:6994600-7021400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:6994800-7000600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr4:6994800-7007600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr4:6995000-7009200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:6995000-7020800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:6995200-7000600	Weak transcription	Brain Substantia Nigra	brain
23	chr4:6995200-7000600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr4:6995200-7000800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:6995200-7008400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:6995200-7008600	Strong transcription	Fetal Intestine Small	intestine
27	chr4:6995400-7000800	Weak transcription	Brain Angular Gyrus	brain
28	chr4:6995400-7005000	Strong transcription	GM12878-XiMat	blood
29	chr4:6995400-7006600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr4:6995400-7007800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr4:6995400-7008600	Strong transcription	Fetal Intestine Large	intestine
32	chr4:6995400-7013600	Strong transcription	Fetal Thymus	thymus
33	chr4:6995600-7006800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr4:6995800-7000600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr4:6995800-7001600	Strong transcription	Liver	Liver
36	chr4:6995800-7003400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:6995800-7004200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr4:6995800-7006800	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr4:6995800-7008200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:6995800-7008400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr4:6995800-7032800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:6996000-7004000	Strong transcription	Fetal Lung	lung
43	chr4:6996000-7004200	Weak transcription	Psoas Muscle	Psoas
44	chr4:6996000-7004600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:6996000-7006400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:6996000-7014800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr4:6996000-7035200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:6996200-7000800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr4:6996400-7007400	Strong transcription	Fetal Brain Female	brain
50	chr4:6996400-7034800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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