Variant report

Variant	rs434382
Chromosome Location	chr2:7174876-7174877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:7036971..7037923-chr2:7174157..7175032,3	MCF-7	breast:
2	chr2:7168014..7170353-chr2:7174228..7177127,2	K562	blood:
3	chr2:7173089..7176193-chr2:7177804..7181061,3	K562	blood:
4	chr2:6966326..6967110-chr2:7174542..7175091,2	K562	blood:
5	chr2:7057247..7059808-chr2:7172924..7176553,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151692	Chromatin interaction
ENSG00000228203	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs2460409	0.81[AMR][1000 genomes]
rs309293	0.81[AMR][1000 genomes]
rs309300	0.86[ASN][1000 genomes]
rs309302	0.85[CEU][hapmap];0.91[JPT][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs309304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309306	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs309307	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs309309	0.91[JPT][hapmap]
rs309310	0.91[JPT][hapmap]
rs309311	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs309324	0.89[JPT][hapmap]
rs365483	0.82[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs365775	0.84[EUR][1000 genomes]
rs367107	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs372346	1.00[ASN][1000 genomes]
rs380605	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs389323	0.99[ASN][1000 genomes]
rs391109	0.82[EUR][1000 genomes]
rs392051	0.99[ASN][1000 genomes]
rs392904	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[ASN][1000 genomes]
rs399101	0.99[ASN][1000 genomes]
rs419970	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs420013	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs424271	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs435009	0.97[ASN][1000 genomes]
rs441241	0.83[EUR][1000 genomes]
rs451503	1.00[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs434382	CPSF3	cis	cerebellum	SCAN
rs434382	RNF144A	cis	parietal	SCAN
rs434382	RNF144A	cis	cerebellum	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7151200-7185200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:7152600-7192400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:7154000-7183200	Strong transcription	Primary T cells from cord blood	blood
4	chr2:7154000-7190200	Strong transcription	Dnd41	blood
5	chr2:7154600-7184200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:7155200-7182000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:7155600-7178800	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr2:7157000-7177600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:7157000-7179200	Weak transcription	Aorta	Aorta
10	chr2:7157200-7185200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:7158200-7188800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:7158400-7186800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:7159000-7181000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:7159400-7186800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:7159600-7180600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:7163200-7177400	Weak transcription	Fetal Brain Male	brain
17	chr2:7164000-7177600	Weak transcription	NHDF-Ad	bronchial
18	chr2:7164000-7178000	Weak transcription	K562	blood
19	chr2:7164600-7182200	Weak transcription	Small Intestine	intestine
20	chr2:7164800-7189000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:7165400-7179200	Weak transcription	Colonic Mucosa	Colon
22	chr2:7166800-7176400	Strong transcription	Brain Germinal Matrix	brain
23	chr2:7166800-7177800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:7167000-7177800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:7167400-7176600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:7167400-7200400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:7167800-7175600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:7167800-7182800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:7168000-7180000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:7168000-7185400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:7168400-7177000	Strong transcription	Fetal Brain Female	brain
32	chr2:7168600-7175800	Genic enhancers	Spleen	Spleen
33	chr2:7168800-7176400	Strong transcription	Fetal Stomach	stomach
34	chr2:7169600-7184200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:7169800-7177200	Weak transcription	Right Atrium	heart
36	chr2:7170400-7177200	Strong transcription	Brain Hippocampus Middle	brain
37	chr2:7170800-7187600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:7171600-7179600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:7171800-7175600	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr2:7171800-7175800	Strong transcription	Brain Cingulate Gyrus	brain
41	chr2:7171800-7177800	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:7172000-7175400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:7172000-7191200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:7172200-7177600	Weak transcription	Fetal Heart	heart
45	chr2:7172200-7178800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:7172200-7179600	Weak transcription	Placenta	Placenta
47	chr2:7172200-7184200	Weak transcription	Gastric	stomach
48	chr2:7172200-7186400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr2:7172200-7197200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:7172400-7177800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links