Variant report

Variant	rs2309142
Chromosome Location	chr12:122113494-122113495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122111338..122114231-chr12:122116440..122119005,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10743188	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10840652	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12320939	0.80[EUR][1000 genomes]
rs1877484	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2669163	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2669165	0.85[AMR][1000 genomes]
rs2669166	0.82[AMR][1000 genomes]
rs2669168	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2720021	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2720022	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2720025	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2720035	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2942368	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2942379	0.83[AMR][1000 genomes]
rs2954116	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3825175	0.84[EUR][1000 genomes]
rs6486789	0.80[EUR][1000 genomes]
rs7135617	0.81[EUR][1000 genomes]
rs7297028	0.81[EUR][1000 genomes]
rs7978609	0.85[EUR][1000 genomes]
rs7978866	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122103200-122116000	Weak transcription	K562	blood
2	chr12:122111200-122116200	Weak transcription	Brain Germinal Matrix	brain
3	chr12:122111400-122114200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:122111400-122114200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:122111400-122114200	Weak transcription	Spleen	Spleen
6	chr12:122111400-122116000	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:122111400-122116200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:122111400-122116400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:122111400-122116800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:122111400-122116800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:122111400-122116800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:122111400-122116800	Weak transcription	Fetal Thymus	thymus
13	chr12:122111400-122117000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:122111400-122117000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:122111400-122117000	Weak transcription	Thymus	Thymus
16	chr12:122111400-122124200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:122111400-122124400	Weak transcription	Brain Anterior Caudate	brain
18	chr12:122111400-122124800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:122111600-122114400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:122111600-122116600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:122111600-122116600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:122111600-122116800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:122111600-122116800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:122111600-122116800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:122111600-122117000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:122111600-122117000	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:122111600-122119800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:122111600-122124600	Weak transcription	Fetal Kidney	kidney
29	chr12:122111800-122117200	Weak transcription	Brain Substantia Nigra	brain
30	chr12:122112800-122116600	Weak transcription	Placenta	Placenta
31	chr12:122113000-122117000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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