Variant report

Variant	rs571317942
Chromosome Location	chr15:43028141-43028142
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	chr15:43027826-43029760	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:43027973-43028326	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:43028037-43028524	HepG2	liver:	n/a	n/a
4	MAZ	chr15:43028138-43029884	IMR90	lung:	n/a	n/a
5	POLR2A	chr15:43028092-43028465	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr15:43028069-43029712	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:43028085-43029764	K562	blood:	n/a	n/a
8	POLR2A	chr15:43027862-43029754	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr15:43027827-43029802	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43019448..43022159-chr15:43025632..43028520,2	MCF-7	breast:
2	chr15:43014319..43018768-chr15:43027782..43030873,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246283	TF binding region
ENSG00000140326	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv457122	chr15:42948862-43062548	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv569238	chr15:42948862-43062548	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv977054	chr15:43015821-43171355	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	esv3410012	chr15:43027685-43030233	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv3344912	chr15:43028085-43030633	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 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	chr15:43018400-43028200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:43023600-43028400	Weak transcription	Small Intestine	intestine
3	chr15:43024800-43028200	Weak transcription	NH-A	brain
4	chr15:43026400-43028200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr15:43026800-43028200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr15:43026800-43028200	Genic enhancers	Thymus	Thymus
7	chr15:43026800-43028400	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr15:43027200-43028200	Genic enhancers	Fetal Lung	lung
9	chr15:43027200-43028200	Transcr. at gene 5' and 3'	Dnd41	blood
10	chr15:43027200-43028400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr15:43027400-43028200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr15:43027400-43028200	Weak transcription	Fetal Kidney	kidney
13	chr15:43027600-43028200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr15:43027600-43028200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr15:43027600-43028200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr15:43027600-43028200	Enhancers	Fetal Heart	heart
17	chr15:43027600-43028200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:43027600-43028400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr15:43027600-43028400	Enhancers	Spleen	Spleen
20	chr15:43027600-43028600	Flanking Active TSS	Colon Smooth Muscle	Colon
21	chr15:43027800-43028200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:43027800-43028200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:43027800-43028200	Enhancers	Brain Hippocampus Middle	brain
24	chr15:43027800-43028200	Enhancers	Esophagus	oesophagus
25	chr15:43027800-43028200	Enhancers	Fetal Brain Male	brain
26	chr15:43027800-43028200	Genic enhancers	Fetal Thymus	thymus
27	chr15:43027800-43028200	Enhancers	Ovary	ovary
28	chr15:43027800-43028200	Enhancers	Right Ventricle	heart
29	chr15:43027800-43028400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:43027800-43028400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:43027800-43028600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr15:43027800-43028600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:43027800-43028600	Flanking Active TSS	Hela-S3	cervix
34	chr15:43027800-43028800	Enhancers	Stomach Mucosa	stomach
35	chr15:43028000-43028200	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr15:43028000-43028200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr15:43028000-43028200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:43028000-43028200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:43028000-43028200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:43028000-43028200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr15:43028000-43028200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr15:43028000-43028200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr15:43028000-43028200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr15:43028000-43028200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr15:43028000-43028200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr15:43028000-43028200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr15:43028000-43028200	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr15:43028000-43028200	Enhancers	Primary T cells from cord blood	blood
49	chr15:43028000-43028200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr15:43028000-43028200	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain

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