Variant report

Variant	rs147036534
Chromosome Location	chr2:20099670-20099671
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	BCLAF1	chr2:20099516-20100303	K562	blood:	n/a	n/a
2	MXI1	chr2:20099632-20100642	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:20099642-20100002	K562	blood:	n/a	n/a
4	MYC	chr2:20099632-20099899	MCF10A-Er-Src	breast:	n/a	n/a
5	TEAD4	chr2:20099566-20100535	K562	blood:	n/a	n/a
6	POLR2A	chr2:20099587-20103361	K562	blood:	n/a	n/a
7	IRF1	chr2:20099573-20102595	K562	blood:	n/a	chr2:20100020-20100034 chr2:20100020-20100040 chr2:20100020-20100031 chr2:20100021-20100034 chr2:20100016-20100037 chr2:20100022-20100036 chr2:20100019-20100033 chr2:20100021-20100034 chr2:20100020-20100033 chr2:20102374-20102394 chr2:20100021-20100034 chr2:20100016-20100033 chr2:20100021-20100032 chr2:20099699-20099713 chr2:20100021-20100035 chr2:20100020-20100030
8	IRF1	chr2:20099609-20102356	K562	blood:	n/a	chr2:20100020-20100034 chr2:20100020-20100040 chr2:20100020-20100031 chr2:20100021-20100034 chr2:20100016-20100037 chr2:20100022-20100036 chr2:20100019-20100033 chr2:20100021-20100034 chr2:20100020-20100033 chr2:20100021-20100034 chr2:20100016-20100033 chr2:20100021-20100032 chr2:20099699-20099713 chr2:20100021-20100035 chr2:20100020-20100030
9	MAX	chr2:20099647-20099932	K562	blood:	n/a	n/a
10	MYC	chr2:20099670-20099863	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr2:20099632-20100116	K562	blood:	n/a	n/a
12	MXI1	chr2:20099652-20099890	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:17848995..17851226-chr2:20098701..20100587,2	K562	blood:
2	chr2:20099437..20102980-chr2:20547960..20551663,4	K562	blood:
3	chr2:20099026..20101634-chr2:20189872..20192427,2	K562	blood:
4	chr2:20068233..20072834-chr2:20097586..20102817,5	K562	blood:
5	chr2:20097107..20100415-chr2:20424161..20425989,3	K562	blood:
6	chr2:19554321..19555906-chr2:20098486..20101228,2	K562	blood:
7	chr2:20068379..20070681-chr2:20098849..20101144,2	MCF-7	breast:
8	chr2:20098547..20100110-chr2:20271638..20273548,2	MCF-7	breast:
9	chr2:20039185..20041136-chr2:20098530..20100860,2	K562	blood:
10	chr2:20066730..20071387-chr2:20098933..20103374,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271991	TF binding region
TTC32	TF binding region
ENSG00000055917	Chromatin interaction
ENSG00000118965	Chromatin interaction
ENSG00000227210	Chromatin interaction
ENSG00000228784	Chromatin interaction
ENSG00000115884	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	nsv873712	chr2:19955245-20131079	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv873713	chr2:19955245-20144372	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv873714	chr2:20019616-20113088	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv873715	chr2:20059323-20144372	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
5	nsv522640	chr2:20098208-20109061	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv521619	chr2:20098208-20150817	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20076800-20099800	Weak transcription	Fetal Intestine Large	intestine
2	chr2:20086600-20099800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:20089800-20099800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:20092600-20100400	Weak transcription	Lung	lung
5	chr2:20093000-20099800	Enhancers	Liver	Liver
6	chr2:20094200-20100000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:20094600-20100200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:20095000-20099800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:20095200-20099800	Enhancers	Rectal Smooth Muscle	rectum
10	chr2:20095600-20099800	Weak transcription	HSMMtube	muscle
11	chr2:20095800-20099800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:20096000-20100000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:20096200-20100000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:20096600-20099800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr2:20096800-20099800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:20096800-20099800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr2:20097000-20099800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:20097000-20099800	Enhancers	Brain Hippocampus Middle	brain
19	chr2:20097000-20099800	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr2:20097200-20099800	Enhancers	Adipose Nuclei	Adipose
21	chr2:20097200-20099800	Enhancers	Fetal Brain Male	brain
22	chr2:20097200-20099800	Enhancers	Fetal Heart	heart
23	chr2:20097200-20099800	Enhancers	Fetal Thymus	thymus
24	chr2:20097200-20099800	Enhancers	HUVEC	blood vessel
25	chr2:20097200-20100200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr2:20097400-20099800	Enhancers	Brain Anterior Caudate	brain
27	chr2:20097400-20099800	Enhancers	Fetal Lung	lung
28	chr2:20097600-20099800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:20097600-20099800	Enhancers	Primary hematopoietic stem cells	blood
30	chr2:20098200-20099800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:20098200-20099800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:20098200-20099800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:20098200-20100200	Enhancers	Pancreas	Pancrea
34	chr2:20098200-20100800	Enhancers	Spleen	Spleen
35	chr2:20098400-20099800	Enhancers	Primary B cells from cord blood	blood
36	chr2:20098400-20099800	Enhancers	Hela-S3	cervix
37	chr2:20098600-20099800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:20098600-20099800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:20098600-20099800	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr2:20098600-20100200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:20098800-20099800	Enhancers	Primary T cells from cord blood	blood
42	chr2:20098800-20099800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:20098800-20099800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:20098800-20099800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:20098800-20099800	Weak transcription	Aorta	Aorta
46	chr2:20099000-20099800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:20099000-20099800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr2:20099000-20099800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr2:20099000-20099800	Weak transcription	Brain Germinal Matrix	brain
50	chr2:20099000-20099800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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