Variant report

Variant	rs754340
Chromosome Location	chr19:45163671-45163672
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	RCOR1	chr19:45163582-45163687	K562	blood:	n/a	n/a
2	POLR2A	chr19:45162871-45165501	HUVEC	blood vessel:	n/a	n/a
3	RCOR1	chr19:45163544-45163686	K562	blood:	n/a	n/a
4	POLR2A	chr19:45163351-45163734	HepG2	liver:	n/a	n/a
5	POLR2A	chr19:45162951-45167393	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr19:45163041-45163762	A549	lung:	n/a	n/a
7	JUN	chr19:45163490-45163703	HepG2	liver:	n/a	chr19:45163565-45163578
8	POLR2A	chr19:45160041-45169781	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr19:45162181-45166119	HepG2	liver:	n/a	n/a
10	JUND	chr19:45163450-45163759	HepG2	liver:	n/a	chr19:45163600-45163611
11	POLR2A	chr19:45163285-45163782	HepG2	liver:	n/a	n/a
12	POLR2A	chr19:45163192-45163709	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:45163507..45165937-chr19:45174707..45176258,2	MCF-7	breast:
2	chr19:45162255..45163987-chr8:146016275..146018293,2	MCF-7	breast:

Variant related genes	Relation type
CEACAM19	TF binding region
ENSG00000186567	Chromatin interaction
ENSG00000161016	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10411273	0.97[ASN][1000 genomes]
rs10422182	0.93[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.86[JPT][hapmap];0.91[LWK][hapmap];0.81[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1058402	1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs2272020	0.96[ASN][1000 genomes]
rs2272021	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28714160	0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3786495	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs59328593	0.84[ASN][1000 genomes]
rs60052241	0.96[ASN][1000 genomes]
rs60948164	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs62119276	0.82[ASN][1000 genomes]
rs62119283	0.96[ASN][1000 genomes]
rs6509170	0.93[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.86[JPT][hapmap];0.93[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs8108587	1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062812	chr19:45042262-45214796	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv912116	chr19:45146103-45298069	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	esv1811264	chr19:45162189-45170547	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv1812642	chr19:45162189-45170547	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv1812853	chr19:45163671-45170547	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45148000-45165000	Weak transcription	K562	blood
2	chr19:45148200-45170200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:45149200-45167000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:45149400-45167200	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr19:45150200-45167200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr19:45150600-45167200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr19:45150600-45167200	Strong transcription	Brain Germinal Matrix	brain
8	chr19:45150600-45167400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr19:45150600-45167400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr19:45150600-45167400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr19:45151000-45167800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:45151200-45166400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:45151200-45166400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr19:45151400-45167000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr19:45152000-45167800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:45152400-45163800	Strong transcription	NHLF	lung
17	chr19:45152400-45165000	Strong transcription	NHEK	skin
18	chr19:45152400-45166600	Strong transcription	Stomach Smooth Muscle	stomach
19	chr19:45152600-45164400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:45152600-45165000	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr19:45152600-45165200	Weak transcription	Right Atrium	heart
22	chr19:45152600-45166800	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr19:45152600-45167000	Strong transcription	HUVEC	blood vessel
24	chr19:45152600-45169200	Strong transcription	Osteobl	bone
25	chr19:45152600-45178200	Weak transcription	Fetal Heart	heart
26	chr19:45152800-45165600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:45153000-45165600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:45153000-45167000	Strong transcription	Gastric	stomach
29	chr19:45153000-45168600	Strong transcription	NH-A	brain
30	chr19:45153400-45168600	Strong transcription	Lung	lung
31	chr19:45154000-45173400	Weak transcription	Small Intestine	intestine
32	chr19:45155000-45168400	Weak transcription	Primary T cells from cord blood	blood
33	chr19:45156000-45166800	Strong transcription	HepG2	liver
34	chr19:45156200-45165400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:45157000-45165400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr19:45157000-45167600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr19:45157800-45168400	Strong transcription	Left Ventricle	heart
38	chr19:45158200-45166400	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr19:45158600-45164800	Strong transcription	HSMM	muscle
40	chr19:45158600-45166800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr19:45158600-45167400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr19:45159000-45165600	Strong transcription	NHDF-Ad	bronchial
43	chr19:45159200-45165600	Strong transcription	Fetal Kidney	kidney
44	chr19:45159400-45163800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:45159400-45167800	Strong transcription	Pancreas	Pancrea
46	chr19:45160600-45166400	Strong transcription	Adipose Nuclei	Adipose
47	chr19:45160600-45166800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr19:45160600-45170800	Strong transcription	Fetal Intestine Small	intestine
49	chr19:45160800-45163800	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr19:45160800-45165400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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