Variant report

Variant	rs1984957
Chromosome Location	chr2:50719736-50719737
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:50629632..50630141-chr2:50719329..50719849,2	MCF-7	breast:
2	chr2:48772065..48772805-chr2:50719351..50720113,2	K562	blood:
3	chr2:50571653..50572272-chr2:50719383..50719965,2	MCF-7	breast:
4	chr2:50551521..50552446-chr2:50719322..50720205,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1006138	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1014430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10168080	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10168838	0.90[JPT][hapmap]
rs10176959	0.92[ASN][1000 genomes]
rs10183541	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10184537	1.00[YRI][hapmap]
rs10187846	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10190305	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10191072	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1019318	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10199840	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10207057	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10210592	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10211193	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1030050	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12713104	0.88[ASN][1000 genomes]
rs13012186	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13034257	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2041868	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2041869	0.90[ASN][1000 genomes]
rs2058751	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2058752	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2066948	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2111065	0.89[ASN][1000 genomes]
rs2111066	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2111069	0.88[ASN][1000 genomes]
rs2160448	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2160449	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2216171	0.89[ASN][1000 genomes]
rs6545172	0.89[ASN][1000 genomes]
rs6545173	0.90[ASN][1000 genomes]
rs6545174	0.93[ASN][1000 genomes]
rs6545175	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6545176	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6545177	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6545178	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6707531	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6713061	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6722389	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6732076	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6753552	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7564428	0.94[ASN][1000 genomes]
rs7566514	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs759503	0.84[ASN][1000 genomes]
rs7595040	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs759505	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs759506	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492164	chr2:50399251-51029090	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1000653	chr2:50417660-51083470	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv535693	chr2:50417660-51083470	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv948361	chr2:50611076-50785178	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv933786	chr2:50628354-50780185	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1010510	chr2:50649641-51011565	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv535694	chr2:50649641-51011565	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv532650	chr2:50675808-51136752	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv491644	chr2:50680795-50892906	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv498102	chr2:50680795-50937503	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv2724	chr2:50688876-50734321	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv532651	chr2:50712339-50758351	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv532681	chr2:50715261-51172182	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50699000-50742000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:50717800-50724000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:50718200-50719800	Enhancers	HMEC	breast
4	chr2:50718400-50719800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr2:50718600-50719800	Enhancers	Brain Cingulate Gyrus	brain
6	chr2:50719000-50719800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:50719000-50719800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:50719200-50719800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr2:50719200-50719800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:50719200-50719800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:50719200-50719800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:50719200-50719800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:50719200-50719800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:50719200-50719800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:50719200-50719800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:50719200-50719800	Enhancers	Fetal Kidney	kidney
17	chr2:50719200-50719800	Enhancers	Dnd41	blood
18	chr2:50719400-50719800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:50719400-50719800	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr2:50719400-50719800	Active TSS	Primary B cells from cord blood	blood
21	chr2:50719400-50719800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:50719400-50719800	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr2:50719400-50719800	Flanking Active TSS	Liver	Liver
24	chr2:50719400-50719800	Active TSS	Brain Anterior Caudate	brain
25	chr2:50719400-50719800	Active TSS	Duodenum Mucosa	Duodenum
26	chr2:50719400-50719800	Active TSS	Fetal Stomach	stomach
27	chr2:50719400-50719800	Active TSS	Ovary	ovary
28	chr2:50719400-50719800	Active TSS	Right Atrium	heart
29	chr2:50719400-50719800	Active TSS	Stomach Smooth Muscle	stomach
30	chr2:50719400-50719800	Active TSS	Hela-S3	cervix
31	chr2:50719400-50719800	Enhancers	NH-A	brain
32	chr2:50719600-50719800	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr2:50719600-50719800	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr2:50719600-50719800	Active TSS	Primary hematopoietic stem cells	blood
35	chr2:50719600-50719800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:50719600-50719800	Active TSS	Brain Angular Gyrus	brain
37	chr2:50719600-50719800	Active TSS	Brain Hippocampus Middle	brain
38	chr2:50719600-50719800	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr2:50719600-50719800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:50719600-50719800	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr2:50719600-50719800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr2:50719600-50719800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr2:50719600-50719800	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr2:50719600-50719800	Enhancers	Stomach Mucosa	stomach
45	chr2:50719600-50722800	Weak transcription	Brain Germinal Matrix	brain
46	chr2:50719600-50722800	Weak transcription	Fetal Brain Female	brain
47	chr2:50719600-50725400	Weak transcription	Brain Substantia Nigra	brain
48	chr2:50719600-50734400	Weak transcription	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links