Variant report

Variant	rs78380962
Chromosome Location	chr2:20098242-20098243
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	chr2:20097277-20099218	K562	blood:	n/a	n/a
2	TBL1XR1	chr2:20097913-20098315	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20068233..20072834-chr2:20097586..20102817,5	K562	blood:
2	chr2:20097107..20100415-chr2:20424161..20425989,3	K562	blood:

Variant related genes	Relation type
ENSG00000271991	TF binding region
TTC32	TF binding region
ENSG00000115884	Chromatin interaction
ENSG00000228784	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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20076800-20098400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:20076800-20099800	Weak transcription	Fetal Intestine Large	intestine
3	chr2:20079200-20098600	Weak transcription	Fetal Intestine Small	intestine
4	chr2:20079800-20099000	Weak transcription	Thymus	Thymus
5	chr2:20086600-20099800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:20088000-20099600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:20089800-20099800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:20090600-20098400	Weak transcription	Right Ventricle	heart
9	chr2:20091000-20098400	Weak transcription	HSMM	muscle
10	chr2:20092200-20098800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:20092600-20099600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:20092600-20100400	Weak transcription	Lung	lung
13	chr2:20093000-20099800	Enhancers	Liver	Liver
14	chr2:20094000-20099600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr2:20094200-20099600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:20094200-20099600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr2:20094200-20100000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:20094600-20100200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:20094800-20099600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr2:20095000-20099800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr2:20095200-20099800	Enhancers	Rectal Smooth Muscle	rectum
22	chr2:20095400-20099600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:20095600-20098400	Weak transcription	Placenta	Placenta
24	chr2:20095600-20099800	Weak transcription	HSMMtube	muscle
25	chr2:20095800-20099600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:20095800-20099800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:20096000-20100000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:20096200-20100000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:20096600-20099600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:20096600-20099800	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr2:20096800-20099800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:20096800-20099800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr2:20097000-20099800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:20097000-20099800	Enhancers	Brain Hippocampus Middle	brain
35	chr2:20097000-20099800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr2:20097200-20098400	Genic enhancers	Primary B cells from cord blood	blood
37	chr2:20097200-20098400	Enhancers	Aorta	Aorta
38	chr2:20097200-20098600	Enhancers	Psoas Muscle	Psoas
39	chr2:20097200-20098600	Transcr. at gene 5' and 3'	Dnd41	blood
40	chr2:20097200-20098800	Flanking Active TSS	Fetal Brain Female	brain
41	chr2:20097200-20099000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:20097200-20099000	Enhancers	Left Ventricle	heart
43	chr2:20097200-20099000	Enhancers	Small Intestine	intestine
44	chr2:20097200-20099200	Enhancers	Brain Angular Gyrus	brain
45	chr2:20097200-20099200	Enhancers	Brain Cingulate Gyrus	brain
46	chr2:20097200-20099200	Enhancers	Ovary	ovary
47	chr2:20097200-20099200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr2:20097200-20099600	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr2:20097200-20099800	Enhancers	Adipose Nuclei	Adipose
50	chr2:20097200-20099800	Enhancers	Fetal Brain Male	brain

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