Variant report

Variant	rs60894356
Chromosome Location	chr12:48437095-48437096
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48416842..48418454-chr12:48435864..48437741,2	MCF-7	breast:
2	chr12:48428906..48431676-chr12:48435313..48438563,3	MCF-7	breast:
3	chr12:48435313..48437988-chr12:48451982..48454529,2	K562	blood:
4	chr12:48433439..48436867-chr12:48436934..48440362,3	K562	blood:
5	chr12:48436420..48437194-chr20:9448364..9449175,2	MCF-7	breast:
6	chr12:48383628..48385806-chr12:48436712..48438837,2	K562	blood:

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

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

rs_ID	r²[population]
rs10467100	1.00[EUR][1000 genomes]
rs11168264	1.00[EUR][1000 genomes]
rs11168288	1.00[EUR][1000 genomes]
rs11168290	1.00[EUR][1000 genomes]
rs11168368	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11574002	1.00[EUR][1000 genomes]
rs11574060	1.00[EUR][1000 genomes]
rs11830088	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830546	1.00[ASN][1000 genomes]
rs11833896	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835145	1.00[ASN][1000 genomes]
rs11835282	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835720	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836542	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838217	1.00[EUR][1000 genomes]
rs12297117	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122786	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793947	1.00[EUR][1000 genomes]
rs34116679	1.00[EUR][1000 genomes]
rs34120080	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34698661	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35445616	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35725325	1.00[EUR][1000 genomes]
rs35902603	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272745	1.00[EUR][1000 genomes]
rs41272751	1.00[EUR][1000 genomes]
rs41272757	1.00[EUR][1000 genomes]
rs41272761	1.00[EUR][1000 genomes]
rs56265470	1.00[EUR][1000 genomes]
rs57550917	1.00[EUR][1000 genomes]
rs57783574	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58279970	1.00[EUR][1000 genomes]
rs58373242	1.00[ASN][1000 genomes]
rs58573495	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59339937	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60556433	1.00[EUR][1000 genomes]
rs7316602	1.00[EUR][1000 genomes]
rs73297147	1.00[EUR][1000 genomes]
rs73297150	1.00[EUR][1000 genomes]
rs73297159	1.00[EUR][1000 genomes]
rs74086446	1.00[EUR][1000 genomes]
rs74088715	1.00[EUR][1000 genomes]
rs74088779	1.00[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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 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	chr12:48422800-48438800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:48424800-48437400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:48431400-48438200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:48431400-48438400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:48431600-48437800	Weak transcription	Brain Germinal Matrix	brain
6	chr12:48431800-48437600	Weak transcription	Adipose Nuclei	Adipose
7	chr12:48431800-48438200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:48431800-48438200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:48431800-48438200	Weak transcription	Fetal Stomach	stomach
10	chr12:48431800-48438200	Weak transcription	Lung	lung
11	chr12:48431800-48438200	Weak transcription	Pancreas	Pancrea
12	chr12:48431800-48438400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:48431800-48438400	Weak transcription	K562	blood
14	chr12:48431800-48438800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:48431800-48456600	Weak transcription	NHLF	lung
16	chr12:48432000-48438200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:48432000-48438200	Weak transcription	Right Ventricle	heart
18	chr12:48432000-48438200	Weak transcription	Spleen	Spleen
19	chr12:48432000-48438400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:48432000-48438400	Weak transcription	Fetal Kidney	kidney
21	chr12:48432000-48438400	Weak transcription	Ovary	ovary
22	chr12:48432000-48438800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr12:48432000-48438800	Weak transcription	NHDF-Ad	bronchial
24	chr12:48432000-48439800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:48432000-48439800	Weak transcription	Fetal Heart	heart
26	chr12:48432000-48463400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:48432200-48438200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:48432200-48438200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:48432200-48438400	Weak transcription	HepG2	liver
30	chr12:48432200-48438400	Weak transcription	HSMMtube	muscle
31	chr12:48432200-48438600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:48432200-48498400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:48432400-48438200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:48433000-48438200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:48433200-48437400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr12:48433200-48438200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:48433200-48438600	Weak transcription	Colon Smooth Muscle	Colon
38	chr12:48433400-48438200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:48433400-48438800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:48433800-48438200	Weak transcription	Fetal Brain Female	brain
41	chr12:48433800-48438600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:48434000-48437800	Weak transcription	Thymus	Thymus
43	chr12:48434000-48438200	Weak transcription	Colonic Mucosa	Colon
44	chr12:48434000-48438200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:48434000-48438200	Weak transcription	Small Intestine	intestine
46	chr12:48434400-48437200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:48434400-48438200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:48434400-48439200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:48434600-48437800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:48434600-48438200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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