Variant report

Variant	rs4766950
Chromosome Location	chr12:120278241-120278242
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120120248..120122666-chr12:120276652..120278749,2	K562	blood:
2	chr12:120274242..120277869-chr12:120277898..120281203,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11064925	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12230794	0.95[EUR][1000 genomes]
rs12303871	0.85[YRI][hapmap]
rs35743453	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4766951	0.88[ASW][hapmap];1.00[CEU][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56082213	0.87[AMR][1000 genomes]
rs61945773	0.80[AMR][1000 genomes]
rs7304029	0.89[YRI][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	nsv455727	chr12:120259679-120420670	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv560397	chr12:120259679-120420670	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4766950	LRRC43	cis	parietal	SCAN
rs4766950	P2RX7	cis	parietal	SCAN

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120209400-120293600	Weak transcription	Primary T cells from cord blood	blood
2	chr12:120223000-120314400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:120242600-120279000	Weak transcription	Fetal Intestine Small	intestine
4	chr12:120242600-120279400	Weak transcription	Fetal Intestine Large	intestine
5	chr12:120242600-120293800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:120242600-120294400	Weak transcription	Fetal Kidney	kidney
7	chr12:120242800-120287800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:120243200-120288200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:120245600-120285200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:120247200-120285800	Weak transcription	NHLF	lung
11	chr12:120247400-120285800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:120254800-120286400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:120254800-120314600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:120256600-120304000	Weak transcription	Fetal Heart	heart
15	chr12:120259200-120311800	Strong transcription	Dnd41	blood
16	chr12:120260000-120280600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:120260600-120285800	Weak transcription	NH-A	brain
18	chr12:120260800-120279200	Weak transcription	HUVEC	blood vessel
19	chr12:120262200-120281200	Weak transcription	Esophagus	oesophagus
20	chr12:120263000-120279600	Weak transcription	Primary B cells from cord blood	blood
21	chr12:120265000-120279400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:120265200-120301800	Weak transcription	Osteobl	bone
23	chr12:120266400-120289200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:120269400-120279400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:120270400-120314200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr12:120270800-120279200	Weak transcription	A549	lung
27	chr12:120272000-120303600	Weak transcription	Fetal Lung	lung
28	chr12:120272200-120306800	Weak transcription	HSMM	muscle
29	chr12:120272400-120279600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:120272400-120285400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:120273200-120309000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:120273400-120279400	Weak transcription	HepG2	liver
33	chr12:120273400-120280800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:120274600-120281200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:120274800-120306200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:120275200-120279600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:120275600-120278400	Weak transcription	K562	blood
38	chr12:120275600-120285800	Weak transcription	NHEK	skin
39	chr12:120275600-120288800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:120275800-120288000	Weak transcription	HMEC	breast
41	chr12:120275800-120290400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:120276000-120278600	Strong transcription	GM12878-XiMat	blood
43	chr12:120276000-120307000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:120276200-120279600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:120276200-120279600	Strong transcription	Fetal Stomach	stomach
46	chr12:120276200-120280000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:120276200-120283200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:120276200-120298600	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr12:120276200-120300600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:120276400-120278400	Strong transcription	HUES48 Cell Line	embryonic stem cell

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