Variant report

Variant	rs141552010
Chromosome Location	chr4:100866848-100866849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:100866737-100866906	MCF10A-Er-Src	breast:	n/a	n/a
2	MAZ	chr4:100866745-100868746	IMR90	lung:	n/a	chr4:100867236-100867246 chr4:100867430-100867440 chr4:100867488-100867498
3	POLR2A	chr4:100866646-100869373	GM12878	blood:	n/a	n/a
4	GATA1	chr4:100866451-100868570	PBDE	blood:	n/a	chr4:100867566-100867576 chr4:100867999-100868006 chr4:100866923-100866930
5	ARID3A	chr4:100866794-100867174	K562	blood:	n/a	n/a
6	MXI1	chr4:100866545-100868575	IMR90	lung:	n/a	n/a
7	MXI1	chr4:100866640-100867320	K562	blood:	n/a	n/a
8	MYC	chr4:100866842-100866858	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr4:100866764-100867032	HepG2	liver:	n/a	n/a
10	POLR2A	chr4:100866606-100869191	GM12878	blood:	n/a	n/a
11	POLR2A	chr4:100865896-100872667	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr4:100866125-100872569	K562	blood:	n/a	n/a
13	REST	chr4:100866751-100868297	H1-neurons	neurons:	n/a	n/a
14	EBF1	chr4:100866776-100867276	GM12878	blood:	n/a	n/a
15	SIN3A	chr4:100866751-100869016	H1-hESC	embryonic stem cell:	n/a	chr4:100868014-100868027
16	POLR2A	chr4:100866814-100869632	GM12878	blood:	n/a	n/a
17	MXI1	chr4:100866011-100869141	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr4:100866514-100869255	GM12891	blood:	n/a	n/a
19	STAT3	chr4:100866810-100867189	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr4:100866800-100866950	WI-38	lung:	n/a	n/a
21	POLR2A	chr4:100866588-100867066	MCF-7	breast:	n/a	n/a

No data

(count:10 , 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	chr4:100814213..100816552-chr4:100866797..100868818,3	MCF-7	breast:
7	chr4:100735638..100738493-chr4:100866484..100869243,2	MCF-7	breast:
8	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
9	chr4:100850716..100855335-chr4:100865818..100872882,15	K562	blood:
10	chr4:100840471..100849591-chr4:100866268..100873122,18	K562	blood:

No data

Variant related genes	Relation type
ENSG00000245322	TF binding region
ENSG00000109270	Chromatin interaction
ENSG00000070190	Chromatin interaction
ENSG00000246090	Chromatin interaction
ENSG00000164031	Chromatin interaction
ENSG00000197894	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:126 , 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	chr4:100840400-100867000	Weak transcription	Esophagus	oesophagus
5	chr4:100859000-100867000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:100864800-100867000	Enhancers	Small Intestine	intestine
7	chr4:100865200-100868000	Active TSS	GM12878-XiMat	blood
8	chr4:100865400-100868200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:100865800-100868600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:100866000-100867000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:100866000-100867000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:100866000-100867000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr4:100866000-100867000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:100866000-100867000	Weak transcription	Pancreas	Pancrea
15	chr4:100866000-100867000	Flanking Active TSS	HUVEC	blood vessel
16	chr4:100866000-100867200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr4:100866000-100867200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr4:100866000-100867200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:100866000-100867200	Flanking Active TSS	Dnd41	blood
20	chr4:100866000-100867200	Active TSS	HepG2	liver
21	chr4:100866000-100867200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr4:100866000-100868200	Active TSS	A549	lung
23	chr4:100866000-100868200	Active TSS	NHLF	lung
24	chr4:100866000-100868400	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr4:100866000-100868400	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr4:100866000-100868400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr4:100866000-100868600	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr4:100866000-100868800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:100866200-100867000	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr4:100866200-100867000	Flanking Active TSS	Fetal Lung	lung
31	chr4:100866200-100867000	Flanking Active TSS	NHEK	skin
32	chr4:100866200-100867200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:100866200-100867200	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr4:100866200-100867200	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr4:100866200-100867200	Enhancers	Spleen	Spleen
36	chr4:100866200-100867400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:100866200-100867400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:100866200-100867400	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr4:100866200-100867600	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr4:100866200-100868000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:100866200-100868000	Active TSS	Brain Germinal Matrix	brain
42	chr4:100866200-100868200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:100866200-100868200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:100866200-100868200	Active TSS	HSMM	muscle
45	chr4:100866200-100868200	Active TSS	NHDF-Ad	bronchial
46	chr4:100866200-100868400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr4:100866200-100868400	Active TSS	H1 Cell Line	embryonic stem cell
48	chr4:100866200-100868400	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr4:100866400-100867000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr4:100866400-100867000	Flanking Active TSS	Primary hematopoietic stem cells	blood

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