Variant report

Variant	rs4803464
Chromosome Location	chr19:41918054-41918055
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	MYC	chr19:41917873-41918160	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr19:41917737-41918208	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr19:41917711-41918150	MCF10A-Er-Src	breast:	n/a	n/a
4	EGR1	chr19:41917598-41918056	ECC-1	luminal epithelium:	n/a	chr19:41917775-41917785 chr19:41917773-41917788 chr19:41917774-41917787 chr19:41917774-41917787 chr19:41917775-41917786 chr19:41917774-41917787 chr19:41917774-41917781 chr19:41917773-41917787

No.	Distal block	Cell Line	Cell type
1	chr19:41917692..41920581-chr19:41927683..41929830,2	K562	blood:
2	chr19:41917932..41920141-chr19:41945281..41947349,2	K562	blood:
3	chr19:41911962..41915322-chr19:41916825..41920523,3	K562	blood:
4	chr19:41917692..41924780-chr19:41925842..41930089,8	K562	blood:
5	chr19:41917342..41919292-chr19:41920976..41923914,2	K562	blood:
6	chr19:41903791..41906982-chr19:41915611..41919642,3	K562	blood:

Variant related genes	Relation type
BCKDHA	TF binding region
ENSG00000248098	Chromatin interaction
ENSG00000105341	Chromatin interaction
ENSG00000268987	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12983789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1529717	0.82[ASW][hapmap];1.00[CHB][hapmap];0.87[LWK][hapmap];1.00[YRI][hapmap]
rs3859459	1.00[CHB][hapmap]
rs3909377	1.00[CHB][hapmap]
rs4090570	1.00[CHB][hapmap]
rs4802123	1.00[CHB][hapmap]
rs8179181	1.00[CHB][hapmap]
rs887499	1.00[CHB][hapmap]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs4803464	BCKDHA	trans	parietal	SCAN
rs4803464	MYPOP	cis	cerebellum	SCAN
rs4803464	ZFP112	cis	parietal	SCAN
rs4803464	PSG2	cis	parietal	SCAN
rs4803464	MEGF8	cis	parietal	SCAN
rs4803464	ATP5SL	trans	parietal	SCAN
rs4803464	SIX5	cis	cerebellum	SCAN
rs4803464	DHDH	cis	cerebellum	SCAN
rs4803464	PHLDB3	cis	parietal	SCAN
rs4803464	PVRL2	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41904600-41924800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:41905000-41924800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr19:41905000-41930800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:41905200-41926600	Weak transcription	Small Intestine	intestine
5	chr19:41913600-41925800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr19:41913800-41919400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:41913800-41919600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr19:41913800-41921000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr19:41913800-41927000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:41913800-41932600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr19:41914400-41918200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr19:41914400-41918200	Enhancers	Fetal Heart	heart
13	chr19:41914600-41918800	Strong transcription	Fetal Muscle Trunk	muscle
14	chr19:41914800-41918200	Enhancers	Right Atrium	heart
15	chr19:41915000-41918200	Enhancers	HMEC	breast
16	chr19:41915200-41918800	Weak transcription	Fetal Brain Male	brain
17	chr19:41915200-41932600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr19:41915400-41918200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:41915400-41932800	Weak transcription	Hela-S3	cervix
20	chr19:41915600-41932800	Weak transcription	NH-A	brain
21	chr19:41915800-41918200	Enhancers	Right Ventricle	heart
22	chr19:41915800-41920200	Weak transcription	A549	lung
23	chr19:41916000-41918400	Enhancers	Psoas Muscle	Psoas
24	chr19:41916000-41919000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:41916000-41924200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr19:41916000-41932000	Strong transcription	Fetal Stomach	stomach
27	chr19:41916000-41932400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:41916200-41919000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr19:41916200-41919600	Strong transcription	Fetal Intestine Small	intestine
30	chr19:41916200-41921600	Strong transcription	NHLF	lung
31	chr19:41916200-41922200	Weak transcription	Osteobl	bone
32	chr19:41916200-41926200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr19:41916200-41927000	Strong transcription	Placenta	Placenta
34	chr19:41916200-41928000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:41916200-41932000	Weak transcription	HUVEC	blood vessel
36	chr19:41916400-41918200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:41916400-41918200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:41916400-41918600	Genic enhancers	Left Ventricle	heart
39	chr19:41916400-41918800	Weak transcription	HepG2	liver
40	chr19:41916400-41919000	Strong transcription	Spleen	Spleen
41	chr19:41916400-41919400	Strong transcription	Fetal Muscle Leg	muscle
42	chr19:41916400-41919600	Strong transcription	Fetal Intestine Large	intestine
43	chr19:41916400-41920200	Weak transcription	HSMM	muscle
44	chr19:41916400-41920400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr19:41916400-41920800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr19:41916400-41921200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:41916400-41922800	Weak transcription	Fetal Kidney	kidney
48	chr19:41916400-41925000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr19:41916400-41925200	Strong transcription	Liver	Liver
50	chr19:41916400-41928400	Weak transcription	K562	blood

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