Variant report

Variant	rs560439218
Chromosome Location	chr4:100866658-100866659
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:100866646-100869373	GM12878	blood:	n/a	n/a
2	GATA1	chr4:100866451-100868570	PBDE	blood:	n/a	chr4:100867566-100867576 chr4:100867999-100868006 chr4:100866923-100866930
3	MXI1	chr4:100866545-100868575	IMR90	lung:	n/a	n/a
4	MXI1	chr4:100866640-100867320	K562	blood:	n/a	n/a
5	POLR2A	chr4:100866606-100869191	GM12878	blood:	n/a	n/a
6	POLR2A	chr4:100865896-100872667	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr4:100866125-100872569	K562	blood:	n/a	n/a
8	MXI1	chr4:100866011-100869141	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr4:100866514-100869255	GM12891	blood:	n/a	n/a
10	POLR2A	chr4:100866588-100867066	MCF-7	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:100008800..100012914-chr4:100866380..100869813,4	K562	blood:
2	chr4:100799869..100822436-chr4:100866015..100873106,54	K562	blood:
3	chr4:100008800..100013313-chr4:100866380..100869813,5	K562	blood:
4	chr4:100813266..100817175-chr4:100865527..100871657,11	MCF-7	breast:
5	chr4:100848205..100853069-chr4:100866591..100869335,5	MCF-7	breast:
6	chr4:100735638..100738493-chr4:100866484..100869243,2	MCF-7	breast:
7	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
8	chr4:100850716..100855335-chr4:100865818..100872882,15	K562	blood:
9	chr4:100840471..100849591-chr4:100866268..100873122,18	K562	blood:

No data

Variant related genes	Relation type
ENSG00000245322	TF binding region
ENSG00000070190	Chromatin interaction
ENSG00000164031	Chromatin interaction
ENSG00000109270	Chromatin interaction
ENSG00000197894	Chromatin interaction
ENSG00000246090	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879661	chr4:100805207-100869635	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv879662	chr4:100849466-100876648	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
3	nsv879663	chr4:100866460-100876648	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100816000-100867000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:100816000-100867000	Weak transcription	Lung	lung
3	chr4:100840200-100867000	Weak transcription	Gastric	stomach
4	chr4:100840400-100866800	Weak transcription	Aorta	Aorta
5	chr4:100840400-100867000	Weak transcription	Esophagus	oesophagus
6	chr4:100859000-100867000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:100860400-100866800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:100864200-100866800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:100864200-100866800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr4:100864800-100866800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr4:100864800-100866800	Enhancers	Primary B cells from peripheral blood	blood
12	chr4:100864800-100867000	Enhancers	Small Intestine	intestine
13	chr4:100865200-100868000	Active TSS	GM12878-XiMat	blood
14	chr4:100865400-100866800	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr4:100865400-100868200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:100865800-100868600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:100866000-100866800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:100866000-100866800	Weak transcription	Left Ventricle	heart
19	chr4:100866000-100867000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:100866000-100867000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:100866000-100867000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr4:100866000-100867000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:100866000-100867000	Weak transcription	Pancreas	Pancrea
24	chr4:100866000-100867000	Flanking Active TSS	HUVEC	blood vessel
25	chr4:100866000-100867200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr4:100866000-100867200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr4:100866000-100867200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:100866000-100867200	Flanking Active TSS	Dnd41	blood
29	chr4:100866000-100867200	Active TSS	HepG2	liver
30	chr4:100866000-100867200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr4:100866000-100868200	Active TSS	A549	lung
32	chr4:100866000-100868200	Active TSS	NHLF	lung
33	chr4:100866000-100868400	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr4:100866000-100868400	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr4:100866000-100868400	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr4:100866000-100868600	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr4:100866000-100868800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:100866200-100866800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:100866200-100866800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:100866200-100866800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr4:100866200-100866800	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr4:100866200-100866800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr4:100866200-100866800	Flanking Active TSS	Fetal Brain Female	brain
44	chr4:100866200-100866800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr4:100866200-100867000	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr4:100866200-100867000	Flanking Active TSS	Fetal Lung	lung
47	chr4:100866200-100867000	Flanking Active TSS	NHEK	skin
48	chr4:100866200-100867200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:100866200-100867200	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr4:100866200-100867200	Flanking Active TSS	Stomach Smooth Muscle	stomach

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