Variant report

Variant	rs2948129
Chromosome Location	chr12:121757962-121757963
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121752880..121755223-chr12:121756738..121758316,2	K562	blood:
2	chr12:121755349..121758596-chr12:121759474..121763262,5	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11065526	0.83[EUR][1000 genomes]
rs1169961	0.85[GIH][hapmap];0.91[YRI][hapmap]
rs12579382	0.90[ASN][1000 genomes]
rs2007651	1.00[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2280067	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2686350	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2686356	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2686358	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2686359	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2686367	0.83[ASW][hapmap];0.82[MEX][hapmap];0.84[YRI][hapmap]
rs2942064	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2942065	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2942067	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2948123	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2948127	0.81[ASN][1000 genomes]
rs2948132	0.82[ASN][1000 genomes]
rs3751162	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59997381	0.85[ASN][1000 genomes]
rs7134657	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.99[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7971785	0.86[JPT][hapmap];0.82[MEX][hapmap];0.84[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1048801	chr12:121695522-121761800	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121735800-121764200	Weak transcription	Fetal Heart	heart
2	chr12:121736000-121761200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:121742600-121766200	Weak transcription	Fetal Brain Male	brain
4	chr12:121744000-121763600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:121744200-121783400	Weak transcription	Stomach Mucosa	stomach
6	chr12:121751200-121785600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:121751400-121785800	Strong transcription	Fetal Thymus	thymus
8	chr12:121752000-121785800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:121752000-121787000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:121752200-121758200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:121752200-121758400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:121752200-121758400	Strong transcription	HSMM	muscle
13	chr12:121752400-121776000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr12:121753200-121759600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:121753200-121763600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:121753200-121786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:121753400-121786000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:121753800-121759800	Strong transcription	Fetal Lung	lung
19	chr12:121753800-121763600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:121753800-121775600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:121754000-121758200	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:121754000-121758400	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr12:121754000-121758400	Strong transcription	Fetal Kidney	kidney
24	chr12:121754000-121758400	Strong transcription	Placenta	Placenta
25	chr12:121754000-121758400	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:121754000-121758600	Strong transcription	HepG2	liver
27	chr12:121754000-121759600	Strong transcription	Adipose Nuclei	Adipose
28	chr12:121754000-121763800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr12:121754000-121767800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:121754000-121768200	Strong transcription	Liver	Liver
31	chr12:121754000-121769000	Strong transcription	Fetal Intestine Large	intestine
32	chr12:121754000-121770400	Strong transcription	Primary T cells from cord blood	blood
33	chr12:121754000-121776000	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr12:121754000-121785600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:121754000-121785800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:121754000-121786000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:121754200-121758200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:121754200-121759000	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr12:121754200-121762800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:121754400-121776000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:121754600-121758400	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:121754600-121758400	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr12:121754600-121758400	Strong transcription	Osteobl	bone
44	chr12:121754600-121758600	Strong transcription	Primary B cells from peripheral blood	blood
45	chr12:121754600-121759000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:121754600-121759600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:121754600-121759800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:121754600-121763000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:121754600-121763600	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr12:121754600-121764600	Strong transcription	Fetal Muscle Leg	muscle

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