Variant report

Variant	rs203710
Chromosome Location	chr19:45162038-45162039
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	POLR2A	chr19:45160139-45162853	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr19:45160131-45162415	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr19:45160193-45162711	A549	lung:	n/a	n/a
4	POLR2A	chr19:45161738-45162616	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr19:45161792-45162415	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr19:45160041-45169781	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:45113961..45114501-chr19:45161283..45162179,2	K562	blood:
2	chr19:45160009..45162203-chr19:45167891..45170574,2	MCF-7	breast:

Variant related genes	Relation type
CEACAM19	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10416628	1.00[CHB][hapmap]
rs10422951	1.00[CHB][hapmap]
rs1441618	1.00[CHB][hapmap]
rs28399630	1.00[CHB][hapmap]

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	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

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	chr19:45152600-45163400	Strong transcription	HSMMtube	muscle
20	chr19:45152600-45164400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:45152600-45165000	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr19:45152600-45165200	Weak transcription	Right Atrium	heart
23	chr19:45152600-45166800	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr19:45152600-45167000	Strong transcription	HUVEC	blood vessel
25	chr19:45152600-45169200	Strong transcription	Osteobl	bone
26	chr19:45152600-45178200	Weak transcription	Fetal Heart	heart
27	chr19:45152800-45165600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:45153000-45165600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:45153000-45167000	Strong transcription	Gastric	stomach
30	chr19:45153000-45168600	Strong transcription	NH-A	brain
31	chr19:45153400-45168600	Strong transcription	Lung	lung
32	chr19:45154000-45173400	Weak transcription	Small Intestine	intestine
33	chr19:45155000-45162200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:45155000-45168400	Weak transcription	Primary T cells from cord blood	blood
35	chr19:45156000-45166800	Strong transcription	HepG2	liver
36	chr19:45156200-45165400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr19:45157000-45163000	Weak transcription	Brain Substantia Nigra	brain
38	chr19:45157000-45165400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr19:45157000-45167600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr19:45157200-45162200	Weak transcription	Brain Angular Gyrus	brain
41	chr19:45157800-45168400	Strong transcription	Left Ventricle	heart
42	chr19:45158200-45163000	Strong transcription	A549	lung
43	chr19:45158200-45166400	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr19:45158600-45164800	Strong transcription	HSMM	muscle
45	chr19:45158600-45166800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr19:45158600-45167400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr19:45158800-45162200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:45159000-45165600	Strong transcription	NHDF-Ad	bronchial
49	chr19:45159200-45165600	Strong transcription	Fetal Kidney	kidney
50	chr19:45159400-45163800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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