Variant report

Variant	rs1136293
Chromosome Location	chr12:121629119-121629120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121628427..121630345-chr12:121646286..121648238,2	K562	blood:
2	chr12:121600298..121602055-chr12:121628900..121630578,2	MCF-7	breast:
3	chr12:121533067..121535799-chr12:121628437..121630049,2	K562	blood:
4	chr12:121627659..121629279-chr12:121641297..121643728,2	K562	blood:
5	chr12:121628300..121629951-chr12:121633351..121634928,2	K562	blood:

Variant related genes	Relation type
ENSG00000135124	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12316059	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2230911	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3751142	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3751144	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3751146	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3751147	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58423269	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7132846	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7305883	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7312642	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121583000-121634600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:121583800-121634400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:121596400-121634200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:121602400-121634600	Weak transcription	Fetal Thymus	thymus
5	chr12:121612600-121630200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:121614000-121634600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:121620400-121634200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr12:121622800-121634200	Weak transcription	Placenta	Placenta
9	chr12:121622800-121634400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:121623600-121634200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:121623600-121634200	Weak transcription	Liver	Liver
12	chr12:121623600-121634400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:121624200-121629600	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:121624200-121647200	Weak transcription	Brain Anterior Caudate	brain
15	chr12:121624400-121629600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:121624600-121631600	Enhancers	HUVEC	blood vessel
17	chr12:121624800-121630200	Weak transcription	Brain Substantia Nigra	brain
18	chr12:121625600-121634400	Weak transcription	Primary T cells from cord blood	blood
19	chr12:121625600-121647200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:121626400-121629800	Weak transcription	Brain Angular Gyrus	brain
21	chr12:121627000-121629200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:121627400-121629600	Enhancers	Osteobl	bone
23	chr12:121627400-121630400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:121627400-121630600	Enhancers	NHLF	lung
25	chr12:121627600-121629600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr12:121627800-121630600	Enhancers	HSMM	muscle
27	chr12:121628000-121630200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:121628000-121630200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:121628000-121630400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:121628000-121631400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:121628000-121647200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:121628200-121629400	Enhancers	NHEK	skin
33	chr12:121628400-121629200	Enhancers	HMEC	breast
34	chr12:121628400-121629200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr12:121628600-121629800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:121628600-121630000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:121628800-121629600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr12:121628800-121629600	Enhancers	Right Atrium	heart
39	chr12:121628800-121630000	Enhancers	Adipose Nuclei	Adipose
40	chr12:121628800-121630600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:121628800-121631600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:121628800-121634200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:121628800-121634200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:121628800-121634400	Weak transcription	K562	blood
45	chr12:121629000-121629200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr12:121629000-121629200	Enhancers	Spleen	Spleen
47	chr12:121629000-121629800	Enhancers	Left Ventricle	heart
48	chr12:121629000-121630000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:121629000-121630400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:121629000-121630400	Enhancers	NHDF-Ad	bronchial

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