Variant report

Variant	rs11670739
Chromosome Location	chr19:41881545-41881546
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	CEBPB	chr19:41881419-41881875	A549	lung:	n/a	chr19:41881667-41881678
2	CEBPB	chr19:41881510-41881807	HepG2	liver:	n/a	chr19:41881667-41881678
3	CEBPB	chr19:41881535-41881738	K562	blood:	n/a	chr19:41881667-41881678
4	CEBPB	chr19:41881539-41881782	H1-hESC	embryonic stem cell:	n/a	chr19:41881667-41881678

No.	Distal block	Cell Line	Cell type
1	chr19:41880830..41883046-chr19:41887103..41889706,2	MCF-7	breast:
2	chr19:41846876..41849699-chr19:41880679..41882557,2	K562	blood:
3	chr19:41872814..41874606-chr19:41878668..41881645,2	MCF-7	breast:
4	chr19:41878619..41881645-chr19:41882135..41886243,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255730	TF binding region
TMEM91	TF binding region
BCKDHA	TF binding region
ENSG00000105329	Chromatin interaction
ENSG00000248098	Chromatin interaction
ENSG00000255730	Chromatin interaction
ENSG00000142046	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1025497	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1046909	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11083616	0.83[AMR][1000 genomes]
rs11083617	0.82[AMR][1000 genomes]
rs11670143	0.80[AMR][1000 genomes]
rs1963413	0.83[AMR][1000 genomes]
rs2241713	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34503210	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803457	0.80[AMR][1000 genomes]
rs7260340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8108357	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9710214	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][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	nsv521311	chr19:41856886-41882712	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
2	esv996035	chr19:41881445-41887549	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41870600-41882000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr19:41870800-41882000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr19:41871000-41881800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr19:41871000-41882000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:41871000-41882000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:41871000-41882000	Weak transcription	Primary T cells from cord blood	blood
7	chr19:41871200-41881800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr19:41871200-41882000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr19:41871200-41882000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:41871200-41882000	Weak transcription	Thymus	Thymus
11	chr19:41871200-41882200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr19:41871200-41884000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:41871200-41888600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:41871400-41882000	Weak transcription	Liver	Liver
15	chr19:41871400-41888400	Weak transcription	Dnd41	blood
16	chr19:41872600-41881600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:41872600-41882200	Weak transcription	Fetal Thymus	thymus
18	chr19:41873800-41882000	Weak transcription	Spleen	Spleen
19	chr19:41874200-41881800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr19:41874200-41881800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:41874200-41882000	Weak transcription	Stomach Mucosa	stomach
22	chr19:41874200-41882200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr19:41874400-41882200	Weak transcription	Small Intestine	intestine
24	chr19:41874400-41882200	Weak transcription	HSMM	muscle
25	chr19:41874800-41881600	Weak transcription	Primary B cells from cord blood	blood
26	chr19:41874800-41882000	Weak transcription	Esophagus	oesophagus
27	chr19:41875000-41882000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:41875000-41882000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:41875200-41881800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr19:41875400-41881800	Weak transcription	Fetal Intestine Large	intestine
31	chr19:41875400-41882800	Weak transcription	K562	blood
32	chr19:41875400-41883000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr19:41876000-41881600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr19:41876200-41881600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr19:41877400-41881800	Weak transcription	Fetal Kidney	kidney
36	chr19:41878800-41882000	Enhancers	Fetal Brain Female	brain
37	chr19:41879000-41882000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr19:41879600-41881600	Enhancers	Fetal Muscle Trunk	muscle
39	chr19:41879600-41882000	Enhancers	Fetal Brain Male	brain
40	chr19:41879600-41882000	Enhancers	Fetal Muscle Leg	muscle
41	chr19:41879800-41882000	Enhancers	Fetal Stomach	stomach
42	chr19:41879800-41882200	Enhancers	Brain Hippocampus Middle	brain
43	chr19:41880200-41881800	Weak transcription	Lung	lung
44	chr19:41880200-41881800	Weak transcription	NHEK	skin
45	chr19:41880200-41882000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:41880200-41882000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:41880200-41882000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr19:41880200-41882000	Weak transcription	Fetal Intestine Small	intestine
49	chr19:41880200-41882000	Weak transcription	Gastric	stomach
50	chr19:41880200-41882000	Weak transcription	Rectal Mucosa Donor 31	rectum

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