Variant report

Variant	rs2900551
Chromosome Location	chr12:11017462-11017463
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12300797	1.00[AMR][1000 genomes]
rs12302178	1.00[AMR][1000 genomes]
rs1972571	0.96[AFR][1000 genomes]
rs2159901	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2597986	1.00[AMR][1000 genomes]
rs2708382	1.00[AMR][1000 genomes]
rs3983357	1.00[AMR][1000 genomes]
rs3983358	1.00[AMR][1000 genomes]
rs4360778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4763583	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4763584	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488339	1.00[AMR][1000 genomes]
rs7139132	1.00[AMR][1000 genomes]
rs7139268	1.00[AMR][1000 genomes]
rs7301324	1.00[AMR][1000 genomes]
rs7312325	1.00[AMR][1000 genomes]
rs7312662	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049362	chr12:10893573-11018850	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv898776	chr12:10909412-11032045	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10994400-11035000	Weak transcription	Fetal Kidney	kidney
2	chr12:10998600-11034800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:10999000-11029200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:11007000-11038800	Weak transcription	Psoas Muscle	Psoas
5	chr12:11007200-11039400	Weak transcription	Right Ventricle	heart
6	chr12:11008800-11029400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:11008800-11030000	Weak transcription	HSMMtube	muscle
8	chr12:11009200-11029200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:11009200-11035200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:11009200-11045800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:11009600-11030000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:11011600-11030000	Weak transcription	Esophagus	oesophagus
13	chr12:11011800-11029800	Weak transcription	Liver	Liver
14	chr12:11011800-11030000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:11011800-11030000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:11011800-11031800	Weak transcription	Thymus	Thymus
17	chr12:11012000-11021000	Weak transcription	HepG2	liver
18	chr12:11012000-11034200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:11012200-11031200	Weak transcription	Fetal Stomach	stomach
20	chr12:11012200-11051800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:11012200-11055800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:11012200-11056200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:11013200-11032800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:11014400-11019400	Weak transcription	Aorta	Aorta
25	chr12:11014400-11021000	Weak transcription	Left Ventricle	heart
26	chr12:11014400-11025000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:11014400-11030000	Weak transcription	Ovary	ovary
28	chr12:11014400-11030000	Weak transcription	Pancreas	Pancrea
29	chr12:11014400-11043400	Weak transcription	Fetal Intestine Small	intestine
30	chr12:11014400-11052000	Weak transcription	Fetal Brain Male	brain
31	chr12:11015200-11029200	Weak transcription	Adipose Nuclei	Adipose
32	chr12:11015800-11029400	Weak transcription	Dnd41	blood
33	chr12:11016200-11030000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr12:11016600-11019600	Weak transcription	Primary T cells from cord blood	blood
35	chr12:11016800-11020400	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:11016800-11030000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:11017000-11029400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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