Variant report

Variant	rs4851154
Chromosome Location	chr2:99360565-99360566
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99359454..99362384-chr2:99372139..99374340,2	MCF-7	breast:
2	chr2:99358144..99360845-chr2:99364555..99366061,2	MCF-7	breast:
3	chr2:99346209..99349698-chr2:99359488..99362618,3	MCF-7	breast:
4	chr2:99356397..99359071-chr2:99359903..99362484,2	K562	blood:

Variant related genes	Relation type
ENSG00000071073	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1016124	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10173832	0.83[ASN][1000 genomes]
rs10177696	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10194177	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10199267	0.81[EUR][1000 genomes]
rs10200288	0.95[ASN][1000 genomes]
rs10210711	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10460485	0.81[EUR][1000 genomes]
rs10496332	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11123747	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11123749	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11123751	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11885883	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471383	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12477450	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12615301	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12622931	0.81[EUR][1000 genomes]
rs12993424	0.96[ASN][1000 genomes]
rs13391483	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391794	0.81[EUR][1000 genomes]
rs13410406	0.81[EUR][1000 genomes]
rs1514916	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1517681	0.96[ASN][1000 genomes]
rs1913621	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013983	0.96[ASN][1000 genomes]
rs28783173	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34521960	0.96[ASN][1000 genomes]
rs35477458	0.96[ASN][1000 genomes]
rs41445250	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4851150	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4851153	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58666702	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60024860	0.81[EUR][1000 genomes]
rs6712597	0.80[ASN][1000 genomes]
rs6733957	0.81[EUR][1000 genomes]
rs6737760	0.81[EUR][1000 genomes]
rs6740656	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7420869	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7558236	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7577636	0.81[EUR][1000 genomes]
rs7599792	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99348400-99367000	Weak transcription	Esophagus	oesophagus
2	chr2:99348800-99360600	Weak transcription	Lung	lung
3	chr2:99351800-99360600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:99354600-99364600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:99354800-99360600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:99354800-99364000	Weak transcription	Dnd41	blood
7	chr2:99355000-99362200	Weak transcription	Thymus	Thymus
8	chr2:99355200-99360800	Weak transcription	Small Intestine	intestine
9	chr2:99357200-99361000	Weak transcription	HepG2	liver
10	chr2:99358600-99361400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:99359200-99361400	Enhancers	Pancreas	Pancrea
12	chr2:99359200-99362400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:99359200-99362400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:99359200-99362600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr2:99359200-99362600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr2:99359200-99362800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr2:99359200-99363000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr2:99359400-99362400	Enhancers	Primary T cells from cord blood	blood
19	chr2:99359400-99362400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr2:99359400-99362400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr2:99359600-99360600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:99359600-99360600	Weak transcription	Right Atrium	heart
23	chr2:99359600-99362200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:99359600-99364200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:99359600-99364400	Weak transcription	Placenta	Placenta
26	chr2:99359600-99364400	Weak transcription	Spleen	Spleen
27	chr2:99359600-99367200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:99359600-99374000	Weak transcription	Aorta	Aorta
29	chr2:99359800-99361000	Weak transcription	Gastric	stomach
30	chr2:99359800-99362200	Weak transcription	Right Ventricle	heart
31	chr2:99360000-99360600	Weak transcription	Fetal Thymus	thymus
32	chr2:99360000-99362400	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr2:99360200-99361400	Enhancers	Left Ventricle	heart
34	chr2:99360200-99361600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:99360400-99360600	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr2:99360400-99360600	Enhancers	Stomach Smooth Muscle	stomach
37	chr2:99360400-99360600	Enhancers	HMEC	breast
38	chr2:99360400-99361200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr2:99360400-99361200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:99360400-99361200	Enhancers	HUVEC	blood vessel
41	chr2:99360400-99361400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:99360400-99361400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr2:99360400-99362600	Enhancers	Fetal Heart	heart

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