Variant report

Variant	rs12278938
Chromosome Location	chr11:100644216-100644217
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11224332	1.00[AMR][1000 genomes]
rs11224341	1.00[AMR][1000 genomes]
rs11224343	1.00[AMR][1000 genomes]
rs11224346	1.00[AMR][1000 genomes]
rs11224385	1.00[AMR][1000 genomes]
rs11224404	1.00[AFR][1000 genomes]
rs11224418	0.90[AFR][1000 genomes]
rs11224428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11224429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11224438	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11224465	1.00[AMR][1000 genomes]
rs11224525	1.00[AMR][1000 genomes]
rs12274762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275133	1.00[AMR][1000 genomes]
rs12277269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281021	1.00[AMR][1000 genomes]
rs12281097	1.00[AMR][1000 genomes]
rs12284980	1.00[AFR][1000 genomes]
rs12286434	1.00[AMR][1000 genomes]
rs12286625	1.00[AMR][1000 genomes]
rs12287226	1.00[AMR][1000 genomes]
rs12295600	1.00[AMR][1000 genomes]
rs13377291	0.92[YRI][hapmap];0.93[AFR][1000 genomes]
rs56805393	1.00[AMR][1000 genomes]
rs61104011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565305	1.00[AMR][1000 genomes]
rs73565310	1.00[AMR][1000 genomes]
rs73565331	1.00[AMR][1000 genomes]
rs73565337	1.00[AMR][1000 genomes]
rs73565348	1.00[AMR][1000 genomes]
rs73567534	1.00[AMR][1000 genomes]
rs73571424	1.00[AMR][1000 genomes]
rs73573332	1.00[AMR][1000 genomes]
rs73573395	0.97[AFR][1000 genomes]
rs73575539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580523	1.00[AMR][1000 genomes]
rs7933646	1.00[YRI][hapmap];1.00[AFR][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	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100624600-100655600	Weak transcription	Left Ventricle	heart
2	chr11:100624600-100655600	Weak transcription	Right Ventricle	heart
3	chr11:100631800-100645000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:100632200-100645200	Weak transcription	Colonic Mucosa	Colon
5	chr11:100632200-100647200	Weak transcription	HSMM	muscle
6	chr11:100632800-100645000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:100632800-100645000	Weak transcription	Gastric	stomach
8	chr11:100633000-100647000	Weak transcription	NHLF	lung
9	chr11:100633200-100655600	Weak transcription	Psoas Muscle	Psoas
10	chr11:100633600-100647400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:100635200-100647400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:100635400-100649400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:100635800-100645600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:100637000-100644400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:100639800-100645600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:100639800-100647400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:100640000-100648600	Weak transcription	Small Intestine	intestine
18	chr11:100640000-100649600	Weak transcription	Fetal Kidney	kidney
19	chr11:100640000-100655600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:100640200-100644400	Weak transcription	Fetal Lung	lung
21	chr11:100640200-100644800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:100640200-100645000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:100640200-100645000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:100640200-100645000	Weak transcription	Fetal Stomach	stomach
25	chr11:100640200-100647000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:100640200-100647200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:100640200-100648600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr11:100640200-100651000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:100640400-100645200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:100640400-100646600	Weak transcription	Dnd41	blood
31	chr11:100640400-100647000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:100640400-100648800	Weak transcription	Osteobl	bone
33	chr11:100640400-100651000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:100640800-100645400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:100640800-100645800	Weak transcription	Ovary	ovary
36	chr11:100640800-100655200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:100640800-100655200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:100640800-100655600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr11:100640800-100655600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:100641000-100646800	Weak transcription	HMEC	breast
41	chr11:100641400-100645200	Weak transcription	Fetal Thymus	thymus
42	chr11:100641400-100646600	Strong transcription	Placenta	Placenta
43	chr11:100641400-100649600	Weak transcription	Primary B cells from cord blood	blood
44	chr11:100641600-100645800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:100641800-100645800	Strong transcription	Fetal Muscle Leg	muscle
46	chr11:100643000-100645000	Weak transcription	Fetal Intestine Large	intestine
47	chr11:100643200-100644400	Weak transcription	Adipose Nuclei	Adipose
48	chr11:100643200-100645000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:100643200-100645200	Weak transcription	A549	lung
50	chr11:100643200-100646000	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links