Variant report

Variant	rs1051008
Chromosome Location	chr19:41767295-41767296
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	MAZ	chr19:41767177-41772220	IMR90	lung:	n/a	chr19:41768441-41768450 chr19:41768481-41768490 chr19:41771759-41771769 chr19:41768482-41768493 chr19:41770252-41770262
2	SIN3AK20	chr19:41767289-41770705	A549	lung:	n/a	n/a
3	POLR2A	chr19:41766822-41772154	IMR90	lung:	n/a	n/a
4	IRF1	chr19:41766631-41767387	K562	blood:	n/a	n/a
5	POLR2A	chr19:41766581-41772173	U87	brain:	n/a	n/a
6	CTCF	chr19:41766421-41772168	A549	lung:	n/a	chr19:41768327-41768345 chr19:41769790-41769803 chr19:41768328-41768344
7	POLR2A	chr19:41767199-41771324	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr19:41766803-41767341	U87	brain:	n/a	n/a
9	POLR2A	chr19:41766405-41767321	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr19:41766581-41772179	U87	brain:	n/a	n/a
11	POLR2A	chr19:41767258-41772108	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41753148..41755079-chr19:41765835..41768228,2	MCF-7	breast:
2	chr19:41698019..41700083-chr19:41767122..41769558,2	K562	blood:
3	chr19:41766631..41773289-chr19:41812153..41817614,9	K562	blood:
4	chr19:41766963..41771332-chr19:41813075..41817628,7	K562	blood:
5	chr19:41710998..41712626-chr19:41765390..41767317,2	K562	blood:
6	chr19:41723453..41725082-chr19:41766152..41768338,2	MCF-7	breast:
7	chr19:41766877..41771286-chr19:41856641..41860631,6	K562	blood:
8	chr19:41698985..41702051-chr19:41767021..41770015,3	MCF-7	breast:
9	chr19:41709961..41710916-chr19:41766604..41767721,3	K562	blood:
10	chr19:41729266..41732729-chr19:41766701..41770009,7	K562	blood:

Variant related genes	Relation type
HNRNPUL1	TF binding region
ENSG00000167600	Chromatin interaction
ENSG00000167601	Chromatin interaction
ENSG00000142039	Chromatin interaction
ENSG00000255730	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000105329	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11466349	0.84[ASN][1000 genomes]
rs16959007	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16975124	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16975156	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16975164	1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1968453	1.00[ASN][1000 genomes]
rs2217656	1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2288875	0.86[ASN][1000 genomes]
rs3810173	0.89[ASN][1000 genomes]
rs3826715	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61247776	0.89[ASN][1000 genomes]
rs7246896	0.82[CHB][hapmap]
rs747857	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs9304592	1.00[ASN][1000 genomes]
rs998468	1.00[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41732600-41768800	Weak transcription	Small Intestine	intestine
2	chr19:41736000-41767400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr19:41736400-41767800	Strong transcription	Placenta Amnion	Placenta Amnion
4	chr19:41736600-41767400	Strong transcription	HSMM	muscle
5	chr19:41736600-41767800	Weak transcription	Brain Angular Gyrus	brain
6	chr19:41738800-41767400	Weak transcription	Fetal Brain Male	brain
7	chr19:41739400-41767400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:41742600-41767600	Strong transcription	A549	lung
9	chr19:41753800-41767400	Strong transcription	NHDF-Ad	bronchial
10	chr19:41755000-41767400	Weak transcription	Fetal Thymus	thymus
11	chr19:41755000-41767800	Weak transcription	Hela-S3	cervix
12	chr19:41755000-41768000	Weak transcription	Gastric	stomach
13	chr19:41757400-41767800	Weak transcription	Right Atrium	heart
14	chr19:41758000-41767400	Strong transcription	NHLF	lung
15	chr19:41758200-41767400	Strong transcription	NH-A	brain
16	chr19:41758600-41768000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:41760000-41767400	Weak transcription	Pancreas	Pancrea
18	chr19:41760200-41767400	Weak transcription	Colonic Mucosa	Colon
19	chr19:41760800-41767600	Weak transcription	HepG2	liver
20	chr19:41764000-41767400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr19:41764000-41767400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr19:41764000-41767800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr19:41764200-41767400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr19:41764200-41767800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr19:41764200-41767800	Weak transcription	Brain Substantia Nigra	brain
26	chr19:41764200-41768400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr19:41764400-41769000	Weak transcription	Spleen	Spleen
28	chr19:41765000-41767400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr19:41765000-41767600	Weak transcription	Liver	Liver
30	chr19:41765200-41767400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr19:41765200-41767800	Weak transcription	Fetal Kidney	kidney
32	chr19:41765400-41767400	Weak transcription	Fetal Brain Female	brain
33	chr19:41765400-41767400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr19:41765400-41767400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr19:41765400-41767800	Weak transcription	Brain Anterior Caudate	brain
36	chr19:41765800-41767400	Weak transcription	Colon Smooth Muscle	Colon
37	chr19:41765800-41767400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr19:41765800-41767400	Weak transcription	HUVEC	blood vessel
39	chr19:41765800-41767600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr19:41765800-41767800	Weak transcription	Brain Hippocampus Middle	brain
41	chr19:41765800-41767800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr19:41766000-41767400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:41766000-41767400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:41766000-41767400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr19:41766000-41767400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:41766000-41767400	Weak transcription	Adipose Nuclei	Adipose
47	chr19:41766000-41767400	Weak transcription	Esophagus	oesophagus
48	chr19:41766000-41767400	Weak transcription	Lung	lung
49	chr19:41766000-41767400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr19:41766000-41767400	Weak transcription	NHEK	skin

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