Variant report

Variant	rs574887365
Chromosome Location	chr2:20099445-20099446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

(count:10 , 50 per page) page: 1

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:

No data

Variant related genes	Relation type
ENSG00000055917	Chromatin interaction
ENSG00000115884	Chromatin interaction
ENSG00000228784	Chromatin interaction
ENSG00000118965	Chromatin interaction
ENSG00000227210	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:117 , 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	chr2:20088000-20099600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:20089800-20099800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:20092600-20099600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:20092600-20100400	Weak transcription	Lung	lung
7	chr2:20093000-20099800	Enhancers	Liver	Liver
8	chr2:20094000-20099600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr2:20094200-20099600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:20094200-20099600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:20094200-20100000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:20094600-20100200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:20094800-20099600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr2:20095000-20099800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr2:20095200-20099800	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:20095400-20099600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:20095600-20099800	Weak transcription	HSMMtube	muscle
18	chr2:20095800-20099600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:20095800-20099800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:20096000-20100000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:20096200-20100000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:20096600-20099600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:20096600-20099800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr2:20096800-20099800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:20096800-20099800	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr2:20097000-20099800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:20097000-20099800	Enhancers	Brain Hippocampus Middle	brain
28	chr2:20097000-20099800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr2:20097200-20099600	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr2:20097200-20099800	Enhancers	Adipose Nuclei	Adipose
31	chr2:20097200-20099800	Enhancers	Fetal Brain Male	brain
32	chr2:20097200-20099800	Enhancers	Fetal Heart	heart
33	chr2:20097200-20099800	Enhancers	Fetal Thymus	thymus
34	chr2:20097200-20099800	Enhancers	HUVEC	blood vessel
35	chr2:20097200-20100200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr2:20097400-20099600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr2:20097400-20099600	Enhancers	HMEC	breast
38	chr2:20097400-20099600	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr2:20097400-20099800	Enhancers	Brain Anterior Caudate	brain
40	chr2:20097400-20099800	Enhancers	Fetal Lung	lung
41	chr2:20097600-20099800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr2:20097600-20099800	Enhancers	Primary hematopoietic stem cells	blood
43	chr2:20097800-20099600	Enhancers	Duodenum Mucosa	Duodenum
44	chr2:20098200-20099600	Enhancers	A549	lung
45	chr2:20098200-20099800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:20098200-20099800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:20098200-20099800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:20098200-20100200	Enhancers	Pancreas	Pancrea
49	chr2:20098200-20100800	Enhancers	Spleen	Spleen
50	chr2:20098400-20099600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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