Variant report

Variant	rs73915202
Chromosome Location	chr2:11595145-11595146
allele	A/C
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	CEBPB	chr2:11594852-11595395	A549	lung:	n/a	chr2:11595150-11595163
2	CEBPB	chr2:11594973-11595181	H1-hESC	embryonic stem cell:	n/a	chr2:11595150-11595163
3	CEBPB	chr2:11594992-11595330	MCF-7	breast:	n/a	chr2:11595150-11595163
4	CEBPB	chr2:11595005-11595304	K562	blood:	n/a	chr2:11595150-11595163
5	POLR2A	chr2:11595095-11595316	MCF-7	breast:	n/a	n/a
6	CEBPB	chr2:11594975-11595327	HepG2	liver:	n/a	chr2:11595150-11595163
7	CEBPB	chr2:11594987-11595337	IMR90	lung:	n/a	chr2:11595150-11595163
8	CEBPB	chr2:11594994-11595282	Hela-S3	cervix:	n/a	chr2:11595150-11595163
9	CEBPB	chr2:11594966-11595305	A549	lung:	n/a	chr2:11595150-11595163

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11592749..11596634-chr2:11604210..11607773,3	K562	blood:
2	chr2:11589774..11593870-chr2:11594010..11596957,6	K562	blood:

Variant related genes	Relation type
E2F6	TF binding region
ENSG00000169016	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10183250	1.00[EUR][1000 genomes]
rs10803734	1.00[EUR][1000 genomes]
rs13420559	1.00[EUR][1000 genomes]
rs13421766	1.00[EUR][1000 genomes]
rs13424731	1.00[EUR][1000 genomes]
rs16857649	1.00[EUR][1000 genomes]
rs16857699	1.00[EUR][1000 genomes]
rs4668728	1.00[EUR][1000 genomes]
rs4669732	1.00[EUR][1000 genomes]
rs4669734	1.00[EUR][1000 genomes]
rs56239196	1.00[EUR][1000 genomes]
rs56252168	1.00[EUR][1000 genomes]
rs56273175	1.00[EUR][1000 genomes]
rs56834951	1.00[EUR][1000 genomes]
rs57251854	1.00[EUR][1000 genomes]
rs58477298	1.00[EUR][1000 genomes]
rs58819315	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59554925	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60798771	1.00[EUR][1000 genomes]
rs61091666	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61358269	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6432204	1.00[EUR][1000 genomes]
rs6432205	1.00[EUR][1000 genomes]
rs6432206	1.00[EUR][1000 genomes]
rs6710070	1.00[EUR][1000 genomes]
rs6712902	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6739988	1.00[EUR][1000 genomes]
rs73180141	1.00[EUR][1000 genomes]
rs73915200	1.00[EUR][1000 genomes]
rs73917203	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73917206	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73917207	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7559230	1.00[EUR][1000 genomes]
rs7562399	1.00[EUR][1000 genomes]
rs7565382	1.00[EUR][1000 genomes]
rs7585718	1.00[EUR][1000 genomes]
rs7598673	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7608777	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11575800-11597000	Weak transcription	Fetal Heart	heart
2	chr2:11577600-11603800	Weak transcription	Colonic Mucosa	Colon
3	chr2:11579000-11604800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:11580200-11604000	Weak transcription	Fetal Brain Male	brain
5	chr2:11580400-11596000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:11581000-11596400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:11581200-11597000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:11581800-11596400	Strong transcription	Liver	Liver
9	chr2:11582800-11595600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:11583800-11596800	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr2:11583800-11597600	Strong transcription	HepG2	liver
12	chr2:11584200-11596000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:11584200-11597000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:11584400-11596400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:11584400-11598800	Strong transcription	A549	lung
16	chr2:11584400-11599600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:11585000-11596200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:11585000-11596800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:11585000-11597600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:11585200-11597200	Strong transcription	Dnd41	blood
21	chr2:11586400-11595400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:11586400-11596800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:11586400-11598600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:11586600-11595200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:11586600-11597000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr2:11586600-11598800	Strong transcription	Hela-S3	cervix
27	chr2:11586800-11597000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:11587000-11596400	Strong transcription	HMEC	breast
29	chr2:11587000-11597200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:11587200-11598400	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:11587200-11605400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:11587400-11598400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:11587400-11605200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:11587600-11598400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:11587600-11602200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:11587600-11603800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:11587600-11605400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:11588200-11596000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:11588200-11598400	Weak transcription	Brain Substantia Nigra	brain
40	chr2:11588200-11598400	Weak transcription	Stomach Mucosa	stomach
41	chr2:11589000-11604800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr2:11589200-11598600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr2:11589200-11605400	Weak transcription	Thymus	Thymus
44	chr2:11589400-11595600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:11589400-11605400	Weak transcription	Fetal Kidney	kidney
46	chr2:11589600-11603200	Weak transcription	Spleen	Spleen
47	chr2:11589600-11605400	Weak transcription	Esophagus	oesophagus
48	chr2:11589800-11603800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:11590000-11604000	Weak transcription	Brain Germinal Matrix	brain
50	chr2:11590200-11596000	Weak transcription	Ovary	ovary

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