Variant report

Variant	rs1390323
Chromosome Location	chr12:26158950-26158951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26158771..26161090-chr4:116678922..116681398,2	MCF-7	breast:
2	chr12:26118560..26120578-chr12:26158063..26160123,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1069974	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10732539	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842649	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842657	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048399	1.00[JPT][hapmap]
rs1167537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390322	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1390325	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1472322	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1495654	0.90[EUR][1000 genomes]
rs1495656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1495658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1495661	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1513125	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1979748	0.87[ASN][1000 genomes]
rs1994996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1994998	1.00[CEU][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2055181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2246596	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2634179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2643937	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2643938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2669555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2729636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2729645	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2729651	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2729661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2729662	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3803007	1.00[CEU][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56306595	0.87[ASN][1000 genomes]
rs706522	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7972703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980111	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs829983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829986	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs863807	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs864920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs924050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs924051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.98[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	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26139600-26160000	Weak transcription	Pancreas	Pancrea
2	chr12:26145600-26163000	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:26146200-26163000	Weak transcription	Lung	lung
4	chr12:26148000-26163600	Weak transcription	Aorta	Aorta
5	chr12:26150800-26159600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:26150800-26160000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:26150800-26163200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:26151000-26163000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:26151200-26160000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:26151400-26160400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:26151400-26162000	Weak transcription	Hela-S3	cervix
12	chr12:26152200-26162800	Weak transcription	HSMM	muscle
13	chr12:26154800-26163400	Weak transcription	HSMMtube	muscle
14	chr12:26155000-26159400	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:26155800-26159800	Weak transcription	Left Ventricle	heart
16	chr12:26155800-26163200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:26156000-26159600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:26156000-26160200	Weak transcription	Fetal Stomach	stomach
19	chr12:26156000-26162800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:26156200-26161800	Weak transcription	Fetal Lung	lung
21	chr12:26156200-26163000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:26156400-26159800	Weak transcription	Fetal Heart	heart
23	chr12:26156400-26160000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:26156400-26160200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:26156400-26160200	Weak transcription	Fetal Intestine Large	intestine
26	chr12:26156400-26160200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:26156400-26161600	Weak transcription	Brain Anterior Caudate	brain
28	chr12:26156400-26161800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:26156400-26161800	Weak transcription	Osteobl	bone
30	chr12:26156400-26162400	Weak transcription	Ovary	ovary
31	chr12:26156400-26162600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:26156400-26162600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:26156400-26163000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:26156400-26163400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:26156600-26159800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:26156600-26160000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:26156600-26160200	Weak transcription	NHLF	lung
38	chr12:26156600-26160400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:26156600-26162400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:26156600-26162800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:26156600-26162800	Weak transcription	NH-A	brain
42	chr12:26156600-26163600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr12:26157200-26160200	Weak transcription	Fetal Intestine Small	intestine
44	chr12:26157200-26161200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:26157400-26159600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:26157400-26160200	Weak transcription	NHDF-Ad	bronchial
47	chr12:26157400-26161000	Weak transcription	Psoas Muscle	Psoas
48	chr12:26157800-26159800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:26157800-26161600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:26158000-26160000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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