Variant report

Variant	rs12991414
Chromosome Location	chr2:63103597-63103598
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:63075968..63078397-chr2:63103396..63106295,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1123508	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11687372	0.86[ASN][1000 genomes]
rs12474184	0.88[EUR][1000 genomes]
rs13000344	0.81[EUR][1000 genomes]
rs13006926	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13026938	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13027462	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2018650	0.80[EUR][1000 genomes]
rs2302567	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34506567	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35589581	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35617987	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35881827	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4671052	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4671449	0.86[ASN][1000 genomes]
rs4671452	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4671453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671454	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv428041	chr2:63027947-63206574	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63061200-63115200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:63082000-63104200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:63092800-63104000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:63093600-63103800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:63098200-63108200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:63098400-63114400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:63099600-63112200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:63099800-63104200	ZNF genes & repeats	Dnd41	blood
9	chr2:63099800-63104600	Strong transcription	Osteobl	bone
10	chr2:63099800-63106600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:63099800-63106600	Strong transcription	NH-A	brain
12	chr2:63099800-63107400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:63100000-63104400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:63100200-63107000	Strong transcription	HSMM	muscle
15	chr2:63100200-63108000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:63100400-63103600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:63100400-63105800	Weak transcription	Colonic Mucosa	Colon
18	chr2:63100400-63106200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:63100800-63113400	Strong transcription	HepG2	liver
20	chr2:63101000-63106600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:63101000-63107400	Strong transcription	NHDF-Ad	bronchial
22	chr2:63101000-63107600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:63101000-63110800	Strong transcription	Liver	Liver
24	chr2:63101000-63111200	Weak transcription	HUVEC	blood vessel
25	chr2:63101000-63111400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:63101000-63115000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:63101200-63104000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:63101200-63104600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr2:63101200-63105800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:63101200-63110200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:63101400-63104200	Strong transcription	Brain Hippocampus Middle	brain
32	chr2:63101400-63104600	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr2:63101400-63105800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:63101400-63105800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
35	chr2:63101400-63106000	Strong transcription	HMEC	breast
36	chr2:63101400-63108000	Strong transcription	Adipose Nuclei	Adipose
37	chr2:63101400-63110800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:63101600-63104400	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr2:63101600-63104600	Strong transcription	Duodenum Mucosa	Duodenum
40	chr2:63101600-63105000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:63101600-63105200	Strong transcription	Fetal Heart	heart
42	chr2:63101600-63105400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr2:63101600-63106000	Strong transcription	Stomach Smooth Muscle	stomach
44	chr2:63101600-63107200	Strong transcription	NHLF	lung
45	chr2:63101800-63103600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:63101800-63104000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:63101800-63104200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:63101800-63104400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:63101800-63104400	Strong transcription	Left Ventricle	heart
50	chr2:63101800-63104400	Strong transcription	Rectal Mucosa Donor 31	rectum

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