Variant report

Variant	rs200220705
Chromosome Location	chr2:20099823-20099824
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	POLR2A	chr2:20099750-20102696	K562	blood:	n/a	n/a
2	BCLAF1	chr2:20099516-20100303	K562	blood:	n/a	n/a
3	RCOR1	chr2:20099677-20100461	K562	blood:	n/a	n/a
4	TBP	chr2:20099730-20100225	GM12878	blood:	n/a	n/a
5	CHD1	chr2:20099770-20100430	GM12878	blood:	n/a	n/a
6	WRNIP1	chr2:20099763-20099874	GM12878	blood:	n/a	n/a
7	POLR2A	chr2:20099768-20102525	K562	blood:	n/a	n/a
8	MXI1	chr2:20099632-20100642	GM12878	blood:	n/a	n/a
9	CUX1	chr2:20099704-20101049	K562	blood:	n/a	n/a
10	POLR2A	chr2:20099642-20100002	K562	blood:	n/a	n/a
11	MYC	chr2:20099632-20099899	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr2:20099675-20102959	MCF10A-Er-Src	breast:	n/a	n/a
13	FOXA2	chr2:20099691-20100593	HepG2	liver:	n/a	chr2:20100032-20100044
14	FOXA1	chr2:20099775-20100286	HepG2	liver:	n/a	chr2:20100032-20100044 chr2:20100030-20100045
15	TEAD4	chr2:20099566-20100535	K562	blood:	n/a	n/a
16	POLR2A	chr2:20099753-20099890	K562	blood:	n/a	n/a
17	TBL1XR1	chr2:20099674-20100721	K562	blood:	n/a	n/a
18	BHLHE40	chr2:20099754-20099954	K562	blood:	n/a	n/a
19	MAX	chr2:20099702-20099886	K562	blood:	n/a	n/a
20	ARID3A	chr2:20099673-20100704	K562	blood:	n/a	n/a
21	POLR2A	chr2:20099714-20102679	GM12878	blood:	n/a	n/a
22	EP300	chr2:20099746-20100313	GM12878	blood:	n/a	chr2:20100035-20100045
23	POLR2A	chr2:20099587-20103361	K562	blood:	n/a	n/a
24	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
25	GATA1	chr2:20099742-20100667	PBDE	blood:	n/a	chr2:20100040-20100049
26	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
27	MAX	chr2:20099697-20099907	K562	blood:	n/a	n/a
28	JUND	chr2:20099755-20099970	K562	blood:	n/a	n/a
29	POLR2A	chr2:20099699-20102522	K562	blood:	n/a	n/a
30	MAX	chr2:20099647-20099932	K562	blood:	n/a	n/a
31	FOXA1	chr2:20099818-20100278	HepG2	liver:	n/a	chr2:20100032-20100044 chr2:20100030-20100045
32	NFIC	chr2:20099767-20100473	GM12878	blood:	n/a	n/a
33	MYC	chr2:20099670-20099863	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr2:20099709-20100112	MCF10A-Er-Src	breast:	n/a	n/a
35	FOXA1	chr2:20099744-20100247	HepG2	liver:	n/a	chr2:20100032-20100044 chr2:20100030-20100045
36	POLR2A	chr2:20099742-20102718	GM12878	blood:	n/a	n/a
37	POLR2A	chr2:20099727-20102730	GM12891	blood:	n/a	n/a
38	POLR2A	chr2:20099788-20102669	PBDE	blood:	n/a	n/a
39	MYC	chr2:20099632-20100116	K562	blood:	n/a	n/a
40	RCOR1	chr2:20099733-20100465	GM12878	blood:	n/a	n/a
41	POLR2A	chr2:20099737-20102398	GM18505	blood:	n/a	n/a
42	MXI1	chr2:20099652-20099890	K562	blood:	n/a	n/a
43	POLR2A	chr2:20099734-20102963	K562	blood:	n/a	n/a
44	EP300	chr2:20099791-20100272	K562	blood:	n/a	chr2:20100035-20100045
45	POLR2A	chr2:20099768-20099866	MCF-7	breast:	n/a	n/a
46	STAT3	chr2:20099812-20100431	GM12878	blood:	n/a	chr2:20100021-20100032
47	IRF1	chr2:20099782-20100546	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 chr2:20100021-20100035 chr2:20100020-20100030

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	chr2:20099721..20101368-chr2:20204158..20205910,2	K562	blood:
7	chr2:19554321..19555906-chr2:20098486..20101228,2	K562	blood:
8	chr2:20068379..20070681-chr2:20098849..20101144,2	MCF-7	breast:
9	chr2:20098547..20100110-chr2:20271638..20273548,2	MCF-7	breast:
10	chr2:20039185..20041136-chr2:20098530..20100860,2	K562	blood:
11	chr2:20066730..20071387-chr2:20098933..20103374,5	MCF-7	breast:

Variant related genes	Relation type
TTC32	TF binding region
ENSG00000271991	TF binding region
ENSG00000118965	Chromatin interaction
ENSG00000227210	Chromatin interaction
ENSG00000228784	Chromatin interaction
ENSG00000055917	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20092600-20100400	Weak transcription	Lung	lung
2	chr2:20094200-20100000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:20094600-20100200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:20096000-20100000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:20096200-20100000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:20097200-20100200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:20098200-20100200	Enhancers	Pancreas	Pancrea
8	chr2:20098200-20100800	Enhancers	Spleen	Spleen
9	chr2:20098600-20100200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:20099000-20100200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:20099000-20100200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:20099000-20100200	Weak transcription	Esophagus	oesophagus
13	chr2:20099000-20100200	Weak transcription	Placenta	Placenta
14	chr2:20099000-20100200	Weak transcription	Left Ventricle	heart
15	chr2:20099000-20100200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:20099000-20100200	Weak transcription	Small Intestine	intestine
17	chr2:20099000-20102600	Active TSS	GM12878-XiMat	blood
18	chr2:20099000-20103000	Active TSS	K562	blood
19	chr2:20099400-20100200	Enhancers	Primary B cells from peripheral blood	blood
20	chr2:20099600-20100000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:20099600-20100000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:20099600-20100000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:20099600-20100000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr2:20099600-20100000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr2:20099600-20100000	Flanking Active TSS	Thymus	Thymus
26	chr2:20099600-20100000	Flanking Active TSS	A549	lung
27	chr2:20099600-20100000	Flanking Active TSS	HepG2	liver
28	chr2:20099600-20100000	Flanking Active TSS	NHDF-Ad	bronchial
29	chr2:20099600-20100200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:20099600-20100200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:20099600-20100400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr2:20099600-20100400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:20099600-20100400	Flanking Active TSS	HMEC	breast
34	chr2:20099600-20100600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:20099600-20100600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:20099600-20100600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:20099600-20100600	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr2:20099600-20100600	Flanking Active TSS	Fetal Brain Female	brain
39	chr2:20099600-20100600	Flanking Active TSS	Dnd41	blood
40	chr2:20099600-20100600	Flanking Active TSS	NHEK	skin
41	chr2:20099600-20100600	Flanking Active TSS	NHLF	lung
42	chr2:20099600-20100600	Flanking Active TSS	Osteobl	bone
43	chr2:20099600-20100800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:20099600-20100800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr2:20099600-20100800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:20099600-20100800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr2:20099600-20101000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:20099600-20101000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr2:20099600-20101000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:20099600-20101200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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