Variant report

Variant	rs541419224
Chromosome Location	chr4:95678269-95678270
allele	C/T
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	MXI1	chr4:95677488-95681982	SK-N-SH	brain:	n/a	chr4:95679721-95679730
2	POLR2A	chr4:95678205-95680130	MCF10A-Er-Src	breast:	n/a	n/a
3	RAD21	chr4:95677342-95679343	SK-N-SH	brain:	n/a	n/a
4	CHD1	chr4:95677993-95680028	IMR90	lung:	n/a	chr4:95679126-95679136 chr4:95679131-95679141
5	MYC	chr4:95678190-95678529	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95675993..95678993-chr6:26054520..26056880,3	K562	blood:

Variant related genes	Relation type
BMPR1B	TF binding region
ENSG00000187837	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	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1005816	chr4:95573444-95902704	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv1833916	chr4:95673181-95679741	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3407255	chr4:95677954-95680802	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95677800-95681800	Active TSS	A549	lung
2	chr4:95678000-95678400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:95678000-95678400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr4:95678000-95678800	Flanking Active TSS	HUVEC	blood vessel
5	chr4:95678000-95679000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
6	chr4:95678000-95680000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:95678000-95680200	Active TSS	NH-A	brain
8	chr4:95678000-95682000	Active TSS	Stomach Smooth Muscle	stomach
9	chr4:95678200-95678400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:95678200-95678400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:95678200-95678400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:95678200-95678400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
13	chr4:95678200-95678400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
14	chr4:95678200-95678400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:95678200-95678400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:95678200-95678400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:95678200-95678400	Flanking Active TSS	NHEK	skin
18	chr4:95678200-95678600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
19	chr4:95678200-95678600	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
20	chr4:95678200-95678600	Bivalent/Poised TSS	Fetal Kidney	kidney
21	chr4:95678200-95678600	Bivalent Enhancer	NHDF-Ad	bronchial
22	chr4:95678200-95678800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr4:95678200-95678800	Bivalent Enhancer	Fetal Brain Male	brain
24	chr4:95678200-95679000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr4:95678200-95679000	Flanking Bivalent TSS/Enh	Dnd41	blood
26	chr4:95678200-95679600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
27	chr4:95678200-95680000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:95678200-95680400	Active TSS	Aorta	Aorta
29	chr4:95678200-95680400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
30	chr4:95678200-95680400	Active TSS	HMEC	breast

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