Variant report

Variant	rs112141216
Chromosome Location	chr4:147444594-147444595
allele	A/G
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	POLR2A	chr4:147441905-147444891	IMR90	lung:	n/a	n/a
2	POLR2A	chr4:147443490-147444616	K562	blood:	n/a	n/a
3	GATA3	chr4:147444375-147444666	SH-SY5Y	brain:	n/a	chr4:147444406-147444416
4	POLR2A	chr4:147441877-147444739	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:147429465..147431339-chr4:147443372..147446035,2	MCF-7	breast:
2	chr4:147438639..147441130-chr4:147443226..147445590,2	MCF-7	breast:
3	chr4:147444230..147446047-chr4:147464429..147467416,2	K562	blood:

Variant related genes	Relation type
SLC10A7	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv428453	chr4:147335953-147457115	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv980265	chr4:147444399-147454944	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147441000-147444600	Active TSS	Fetal Brain Female	brain
2	chr4:147441800-147444600	Active TSS	Muscle Satellite Cultured Cells	--
3	chr4:147442000-147444600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr4:147442000-147444600	Active TSS	Thymus	Thymus
5	chr4:147442800-147444600	Active TSS	Primary T cells from cord blood	blood
6	chr4:147443800-147444600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr4:147443800-147444600	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr4:147443800-147444600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr4:147443800-147444600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr4:147444000-147444600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:147444000-147444600	Flanking Active TSS	Fetal Lung	lung
12	chr4:147444000-147444600	Flanking Active TSS	Dnd41	blood
13	chr4:147444000-147444600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr4:147444200-147444600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:147444200-147444600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr4:147444200-147444600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:147444200-147444600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:147444200-147444600	Active TSS	Fetal Brain Male	brain
19	chr4:147444200-147444600	Flanking Active TSS	K562	blood
20	chr4:147444200-147447400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:147444200-147448000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:147444400-147444600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:147444400-147444600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:147444400-147444600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr4:147444400-147444600	Enhancers	Primary B cells from peripheral blood	blood
26	chr4:147444400-147444600	Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr4:147444400-147444600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr4:147444400-147444600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr4:147444400-147444600	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr4:147444400-147444600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:147444400-147444600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr4:147444400-147444600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:147444400-147444600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:147444400-147444600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr4:147444400-147444600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr4:147444400-147444600	Enhancers	Fetal Kidney	kidney
37	chr4:147444400-147444600	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr4:147444400-147444600	Flanking Active TSS	GM12878-XiMat	blood
39	chr4:147444400-147444600	Flanking Active TSS	HepG2	liver
40	chr4:147444400-147444600	Enhancers	HMEC	breast
41	chr4:147444400-147444600	Enhancers	HUVEC	blood vessel
42	chr4:147444400-147444600	Enhancers	NHLF	lung
43	chr4:147444400-147444800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:147444400-147445200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr4:147444400-147445200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:147444400-147445200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:147444400-147445200	Enhancers	Fetal Heart	heart
48	chr4:147444400-147445400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr4:147444400-147445400	Enhancers	NHEK	skin
50	chr4:147444400-147445800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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