Variant report

Variant	rs552199331
Chromosome Location	chr2:20098936-20098937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr2:20098803-20099010	K562	blood:	n/a	n/a
2	POLR2A	chr2:20097277-20099218	K562	blood:	n/a	n/a
3	POLR2A	chr2:20098844-20098976	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr2:20098266-20099164	K562	blood:	n/a	n/a
5	EP300	chr2:20098746-20098955	K562	blood:	n/a	n/a
6	ARID3A	chr2:20098723-20099066	K562	blood:	n/a	n/a
7	POLR2A	chr2:20098842-20099027	ProgFib	skin:	n/a	n/a
8	CEBPB	chr2:20098809-20099052	K562	blood:	n/a	n/a
9	POLR2A	chr2:20098784-20099110	K562	blood:	n/a	n/a
10	HCFC1	chr2:20098921-20099053	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:20098931-20098981	Jurkat	blood:	n/a
2	chr2:20098931-20098981	HNPCEpiC	eye:	n/a
3	chr2:20098931-20098981	ECC-1	luminal epithelium:	n/a
4	chr2:20098931-20098981	AG09309	skin:	n/a
5	chr2:20098931-20098981	T-47D	breast:	n/a
6	chr2:20098931-20098981	HPAEpiC	pulmonary alveolar:	n/a
7	chr2:20098931-20098981	PFSK-1	brain:	n/a
8	chr2:20098931-20098981	NHBE	bronchial:	n/a
9	chr2:20098931-20098981	NB4	blood:	n/a
10	chr2:20098931-20098981	PANC-1	pancreas:	n/a
11	chr2:20098931-20098981	HL-60	blood:	n/a
12	chr2:20098931-20098981	AG04450	lung:	fetal
13	chr2:20098931-20098981	MCF10A-Er-Src	breast:	n/a
14	chr2:20098931-20098981	HEEpiC	esophagus:	n/a
15	chr2:20098931-20098981	Hepatocyte	liver:	n/a
16	chr2:20098931-20098981	HIPEpiC	eye:	n/a
17	chr2:20098931-20098981	PrEC	prostate:	n/a
18	chr2:20098931-20098981	ProgFib	skin:	n/a
19	chr2:20098931-20098981	GM19239	blood:	n/a
20	chr2:20098931-20098981	CMK	blood:	n/a
21	chr2:20098931-20098981	SK-N-MC	brain:	n/a
22	chr2:20098931-20098981	HMEC	breast:	n/a
23	chr2:20098931-20098981	HCT-116	colon:	n/a
24	chr2:20098931-20098981	BJ	skin:	n/a
25	chr2:20098931-20098981	GM12878	blood:	n/a
26	chr2:20098931-20098981	HCPEpiC	choroid plexus:	n/a
27	chr2:20098931-20098981	RPTEC	kidney:	n/a
28	chr2:20098931-20098981	A549	lung:	n/a
29	chr2:20098931-20098981	NH-A	brain:	n/a
30	chr2:20098931-20098981	LNCaP	prostate:	n/a
31	chr2:20098931-20098981	BE2_C	brain:	n/a
32	chr2:20098931-20098981	AG10803	skin:	n/a
33	chr2:20098931-20098981	GM12892	blood:	n/a
34	chr2:20098931-20098981	MCF-7	breast:	n/a
35	chr2:20098931-20098981	HepG2	liver:	n/a
36	chr2:20098931-20098981	HCM	heart:	n/a
37	chr2:20098931-20098981	NT2-D1	testis:	n/a
38	chr2:20098931-20098981	Caco-2	colon:	n/a
39	chr2:20098931-20098981	GM06990	blood:	n/a
40	chr2:20098931-20098981	K562	blood:	n/a
41	chr2:20098931-20098981	AG09319	gingival:	n/a
42	chr2:20098931-20098981	SK-N-SH	brain:	n/a
43	chr2:20098931-20098981	HEK293	kidney:	embryo
44	chr2:20098931-20098981	ovcar-3	ovarian:	n/a
45	chr2:20098931-20098981	SKMC	muscle:	n/a
46	chr2:20098931-20098981	NHDF-neo	bronchial:	n/a
47	chr2:20098931-20098981	IMR90	lung:	fetal
48	chr2:20098931-20098981	HCF	heart:	n/a
49	chr2:20098931-20098981	U87	brain:	n/a
50	chr2:20098931-20098981	HAEpiC	amniotic membrane:	n/a

(count:8 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000271991	TF binding region
TTC32	TF binding region
ENSG00000271991	CpG island
TTC32	CpG island
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: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	chr2:20079800-20099000	Weak transcription	Thymus	Thymus
3	chr2:20086600-20099800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:20088000-20099600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:20089800-20099800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:20092600-20099600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:20092600-20100400	Weak transcription	Lung	lung
8	chr2:20093000-20099800	Enhancers	Liver	Liver
9	chr2:20094000-20099600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr2:20094200-20099600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:20094200-20099600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:20094200-20100000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:20094600-20100200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:20094800-20099600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr2:20095000-20099800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:20095200-20099800	Enhancers	Rectal Smooth Muscle	rectum
17	chr2:20095400-20099600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:20095600-20099800	Weak transcription	HSMMtube	muscle
19	chr2:20095800-20099600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:20095800-20099800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:20096000-20100000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:20096200-20100000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:20096600-20099600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:20096600-20099800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr2:20096800-20099800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:20096800-20099800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr2:20097000-20099800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:20097000-20099800	Enhancers	Brain Hippocampus Middle	brain
29	chr2:20097000-20099800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr2:20097200-20099000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:20097200-20099000	Enhancers	Left Ventricle	heart
32	chr2:20097200-20099000	Enhancers	Small Intestine	intestine
33	chr2:20097200-20099200	Enhancers	Brain Angular Gyrus	brain
34	chr2:20097200-20099200	Enhancers	Brain Cingulate Gyrus	brain
35	chr2:20097200-20099200	Enhancers	Ovary	ovary
36	chr2:20097200-20099200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:20097200-20099600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr2:20097200-20099800	Enhancers	Adipose Nuclei	Adipose
39	chr2:20097200-20099800	Enhancers	Fetal Brain Male	brain
40	chr2:20097200-20099800	Enhancers	Fetal Heart	heart
41	chr2:20097200-20099800	Enhancers	Fetal Thymus	thymus
42	chr2:20097200-20099800	Enhancers	HUVEC	blood vessel
43	chr2:20097200-20100200	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr2:20097400-20099000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:20097400-20099000	Enhancers	Brain Substantia Nigra	brain
46	chr2:20097400-20099000	Enhancers	Gastric	stomach
47	chr2:20097400-20099000	Enhancers	Placenta Amnion	Placenta Amnion
48	chr2:20097400-20099200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:20097400-20099200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:20097400-20099600	Enhancers	Primary T helper cells PMA-I stimulated	--

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