Variant report

Variant	rs441394
Chromosome Location	chr12:29916293-29916294
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29914558..29917139-chr12:29921066..29923083,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10743675	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310141	1.00[ASN][1000 genomes]
rs184221	0.86[ASN][1000 genomes]
rs302316	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302319	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302320	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302322	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34806272	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs393839	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs413884	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs437999	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57756035	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7957615	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv898953	chr12:29905322-29989292	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29880000-29921200	Weak transcription	Fetal Kidney	kidney
2	chr12:29898600-29921200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:29904200-29928600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:29904400-29916800	Weak transcription	Gastric	stomach
5	chr12:29904600-29927800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:29904800-29924200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:29906600-29928400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:29908800-29918800	Weak transcription	Hela-S3	cervix
9	chr12:29908800-29920800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:29908800-29925000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:29910400-29921400	Weak transcription	NHLF	lung
12	chr12:29910600-29921400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:29910600-29921400	Weak transcription	Osteobl	bone
14	chr12:29911000-29919200	Weak transcription	HMEC	breast
15	chr12:29911800-29916400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:29911800-29922200	Weak transcription	Ovary	ovary
17	chr12:29912000-29921400	Weak transcription	Fetal Stomach	stomach
18	chr12:29912800-29924000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:29913200-29918800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:29913600-29917600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:29914800-29917000	Enhancers	Right Ventricle	heart
22	chr12:29914800-29917000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr12:29915000-29916800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:29915000-29916800	Enhancers	Right Atrium	heart
25	chr12:29915000-29916800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr12:29915200-29916400	Enhancers	Fetal Brain Female	brain
27	chr12:29915200-29916600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr12:29915200-29916800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr12:29915200-29917000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr12:29915200-29917000	Enhancers	Colon Smooth Muscle	Colon
31	chr12:29915400-29916600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:29915400-29917000	Enhancers	Adipose Nuclei	Adipose
33	chr12:29915600-29916400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:29915600-29916400	Enhancers	Brain Angular Gyrus	brain
35	chr12:29915600-29916400	Enhancers	Brain Anterior Caudate	brain
36	chr12:29915600-29916400	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr12:29915600-29916400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:29915600-29916400	Enhancers	Fetal Lung	lung
39	chr12:29915600-29916600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:29915600-29916600	Enhancers	Rectal Smooth Muscle	rectum
41	chr12:29915600-29916800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:29915600-29916800	Enhancers	Brain Cingulate Gyrus	brain
43	chr12:29915600-29916800	Enhancers	Fetal Heart	heart
44	chr12:29915600-29916800	Genic enhancers	Fetal Muscle Leg	muscle
45	chr12:29915600-29917000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr12:29915600-29917000	Enhancers	Psoas Muscle	Psoas
47	chr12:29915600-29918000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr12:29915600-29919800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:29915800-29916400	Enhancers	Duodenum Mucosa	Duodenum
50	chr12:29915800-29916400	Genic enhancers	HSMM	muscle

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