Variant report

Variant	rs4768957
Chromosome Location	chr12:51458459-51458460
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51448771..51451777-chr12:51456623..51459233,3	K562	blood:
2	chr12:51455872..51458717-chr12:51468367..51470720,2	K562	blood:
3	chr12:51456928..51458907-chr12:51469668..51472601,2	MCF-7	breast:
4	chr12:51454787..51458558-chr12:51465408..51467786,3	K562	blood:
5	chr12:51450731..51453622-chr12:51457605..51459306,2	K562	blood:
6	chr12:51455894..51458688-chr12:51461376..51464242,3	K562	blood:
7	chr12:51455401..51458794-chr12:51474622..51478324,3	MCF-7	breast:
8	chr12:51454870..51461450-chr12:51474103..51478804,12	K562	blood:
9	chr12:51455730..51461450-chr12:51475774..51478669,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000050426	Chromatin interaction
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10876133	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10876135	1.00[CHB][hapmap];0.96[CHD][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs10876137	0.84[ASN][1000 genomes]
rs11169625	0.83[LWK][hapmap];0.81[TSI][hapmap]
rs11169643	1.00[GIH][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];0.81[TSI][hapmap]
rs11169658	0.83[CHB][hapmap]
rs11169681	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11169687	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11169688	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11169696	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[ASN][1000 genomes]
rs11169700	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169706	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11169708	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.91[LWK][hapmap];0.86[MEX][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11169720	0.81[ASN][1000 genomes]
rs11169722	0.81[ASN][1000 genomes]
rs11169734	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs11169735	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs11169747	0.88[JPT][hapmap]
rs11610454	0.81[ASN][1000 genomes]
rs12227032	0.81[ASN][1000 genomes]
rs12227734	1.00[GIH][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];0.81[TSI][hapmap]
rs12227973	0.80[AMR][1000 genomes]
rs12230388	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12312531	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12424460	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs1493382	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes]
rs17125363	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17125365	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17125371	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2269683	1.00[LWK][hapmap];0.82[MKK][hapmap];0.81[TSI][hapmap]
rs2359189	1.00[CHB][hapmap];0.80[CHD][hapmap];0.84[ASN][1000 genomes]
rs2436636	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2452794	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2452795	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap]
rs2640518	1.00[CHB][hapmap];0.80[CHD][hapmap];0.82[JPT][hapmap]
rs2640520	0.81[ASN][1000 genomes]
rs2640522	0.81[ASN][1000 genomes]
rs2640525	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap];0.81[ASN][1000 genomes]
rs2640526	1.00[CEU][hapmap];0.94[CHB][hapmap];0.80[CHD][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap]
rs2730653	0.81[ASN][1000 genomes]
rs2730659	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2956427	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs4768953	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.80[MEX][hapmap];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4768974	0.81[ASN][1000 genomes]
rs7399214	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap];0.81[ASN][1000 genomes]
rs7953765	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.92[LWK][hapmap];0.93[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51442800-51470200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:51443400-51476000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:51443600-51459600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:51443600-51462800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:51443800-51462600	Strong transcription	A549	lung
6	chr12:51444200-51463200	Strong transcription	Placenta	Placenta
7	chr12:51444200-51465000	Strong transcription	Fetal Muscle Leg	muscle
8	chr12:51444200-51465400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:51444200-51465600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:51444200-51470400	Strong transcription	Fetal Stomach	stomach
11	chr12:51444400-51462800	Strong transcription	Duodenum Mucosa	Duodenum
12	chr12:51444400-51464800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr12:51445000-51467800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:51445400-51462600	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr12:51445400-51462600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:51445400-51462600	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:51445400-51462800	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr12:51445400-51464000	Strong transcription	Fetal Intestine Large	intestine
19	chr12:51445400-51467800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:51445400-51467800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr12:51445400-51469200	Strong transcription	Fetal Thymus	thymus
22	chr12:51445400-51470600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:51445600-51462400	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:51445600-51462800	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr12:51445600-51462800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:51445600-51462800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:51445600-51462800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr12:51445600-51462800	Strong transcription	Primary T cells from cord blood	blood
29	chr12:51445600-51463000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:51445600-51463000	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:51445600-51463800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:51445600-51465200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr12:51445600-51467400	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr12:51445600-51467800	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:51445600-51467800	Strong transcription	Adipose Nuclei	Adipose
36	chr12:51445600-51468000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr12:51445600-51468400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr12:51445600-51469200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:51445600-51469800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:51445600-51470400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:51445600-51470600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:51445800-51462600	Strong transcription	Brain Anterior Caudate	brain
43	chr12:51445800-51462800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:51445800-51468000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:51445800-51468400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:51446000-51462800	Strong transcription	Dnd41	blood
47	chr12:51446000-51468400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:51446600-51463800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:51446800-51468600	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:51447000-51462400	Strong transcription	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links