Variant report

Variant	rs10189200
Chromosome Location	chr2:190524675-190524676
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	FOXA1	chr2:190524439-190524815	HepG2	liver:	n/a	chr2:190524670-190524682 chr2:190524666-190524678 chr2:190524764-190524776
2	RCOR1	chr2:190524531-190524709	K562	blood:	n/a	n/a
3	RCOR1	chr2:190524432-190524815	Hela-S3	cervix:	n/a	n/a
4	FOXA1	chr2:190524442-190524756	T-47D	breast:	n/a	chr2:190524670-190524682 chr2:190524666-190524678
5	RAD21	chr2:190524483-190524773	Hela-S3	cervix:	n/a	n/a
6	EP300	chr2:190524417-190524804	Hela-S3	cervix:	n/a	chr2:190524606-190524616
7	FOXA1	chr2:190524332-190524831	HepG2	liver:	n/a	chr2:190524670-190524682 chr2:190524666-190524678 chr2:190524764-190524776
8	FOXA1	chr2:190524335-190524867	HepG2	liver:	n/a	chr2:190524670-190524682 chr2:190524666-190524678 chr2:190524764-190524776
9	TCF7L2	chr2:190524453-190524850	HEK293	kidney:	n/a	n/a
10	TCF7L2	chr2:190524481-190524921	Hela-S3	cervix:	n/a	n/a
11	FOXA1	chr2:190524505-190524729	T-47D	breast:	n/a	chr2:190524670-190524682 chr2:190524666-190524678
12	KAP1	chr2:190524525-190524903	U2OS	brain:	n/a	n/a
13	FOXA2	chr2:190524449-190524770	HepG2	liver:	n/a	chr2:190524670-190524682 chr2:190524666-190524678
14	CEBPB	chr2:190524420-190524933	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:190523468..190528374-chr2:190647262..190651485,5	K562	blood:
2	chr2:190443338..190447714-chr2:190524367..190527732,5	K562	blood:
3	chr2:190524327..190528986-chr2:190625993..190629803,6	K562	blood:
4	chr2:190524324..190528374-chr2:190645867..190651485,5	K562	blood:
5	chr2:190522887..190525568-chr2:190562266..190564639,2	MCF-7	breast:

Variant related genes	Relation type
ASNSD1	TF binding region
ENSG00000128699	Chromatin interaction
ENSG00000138449	Chromatin interaction
ENSG00000273240	Chromatin interaction
ENSG00000064933	Chromatin interaction
ENSG00000128694	Chromatin interaction
ENSG00000253559	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13402833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13428495	1.00[AMR][1000 genomes]
rs13429318	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190514800-190525600	Weak transcription	NHLF	lung
2	chr2:190520000-190525600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:190520200-190526200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:190521800-190526000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:190522800-190525400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:190522800-190526200	Weak transcription	Right Atrium	heart
7	chr2:190523000-190525600	Weak transcription	NHDF-Ad	bronchial
8	chr2:190523200-190525600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:190523200-190525600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:190523200-190526000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:190523200-190526000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:190523200-190526200	Weak transcription	Fetal Heart	heart
13	chr2:190523400-190525600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:190523400-190526000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:190523400-190526200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:190523400-190526200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:190523600-190525600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:190523600-190525600	Weak transcription	Thymus	Thymus
19	chr2:190523600-190525600	Enhancers	HepG2	liver
20	chr2:190523600-190526200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:190523600-190526200	Weak transcription	Fetal Lung	lung
22	chr2:190523800-190525400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:190523800-190525600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:190523800-190526000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:190524000-190524800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr2:190524000-190524800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr2:190524000-190525600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:190524000-190525600	Weak transcription	Osteobl	bone
29	chr2:190524000-190526000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:190524000-190526000	Enhancers	Hela-S3	cervix
31	chr2:190524000-190526200	Weak transcription	Stomach Mucosa	stomach
32	chr2:190524200-190525600	Weak transcription	Primary B cells from cord blood	blood
33	chr2:190524200-190525600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr2:190524200-190525600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:190524200-190525600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr2:190524200-190525600	Weak transcription	GM12878-XiMat	blood
37	chr2:190524200-190526000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr2:190524200-190526000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:190524200-190526000	Weak transcription	Placenta	Placenta
40	chr2:190524200-190526000	Weak transcription	Fetal Thymus	thymus
41	chr2:190524200-190526000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr2:190524400-190525400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:190524400-190525400	Weak transcription	Dnd41	blood
44	chr2:190524400-190526000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr2:190524400-190526000	Weak transcription	Primary T cells from cord blood	blood
46	chr2:190524400-190526000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr2:190524400-190526000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:190524600-190524800	Enhancers	Fetal Kidney	kidney
49	chr2:190524600-190525000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:190524600-190525600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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