Variant report

Variant	rs12354387
Chromosome Location	chr1:161236019-161236020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161228430..161230750-chr1:161235534..161238135,2	MCF-7	breast:
2	chr1:161227688..161230234-chr1:161234768..161237380,2	MCF-7	breast:
3	chr1:161229889..161232448-chr1:161233494..161236139,3	K562	blood:

Variant related genes	Relation type
ENSG00000248485	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11265578	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv520253	chr1:161234623-161237892	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161232000-161236600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:161232600-161237000	Weak transcription	GM12878-XiMat	blood
3	chr1:161233400-161237000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:161234800-161237600	Enhancers	Ovary	ovary
5	chr1:161235000-161237400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:161235200-161236200	Enhancers	Fetal Heart	heart
7	chr1:161235200-161236400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:161235200-161237400	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:161235200-161238000	Enhancers	Fetal Stomach	stomach
10	chr1:161235400-161237200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:161235600-161237200	Weak transcription	Placenta	Placenta
12	chr1:161235800-161236200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:161235800-161236400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:161235800-161236400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:161235800-161236400	Enhancers	NH-A	brain
16	chr1:161235800-161236600	Enhancers	HSMM	muscle
17	chr1:161235800-161236800	Bivalent Enhancer	Osteobl	bone
18	chr1:161235800-161237000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:161235800-161237200	Enhancers	Brain Anterior Caudate	brain
20	chr1:161235800-161237200	Enhancers	HSMMtube	muscle
21	chr1:161235800-161237400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:161235800-161237400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:161235800-161237400	Enhancers	A549	lung
24	chr1:161235800-161237600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:161235800-161237600	Enhancers	Fetal Muscle Leg	muscle
26	chr1:161236000-161236200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr1:161236000-161236200	Enhancers	Brain Cingulate Gyrus	brain
28	chr1:161236000-161236400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:161236000-161236400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:161236000-161236400	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr1:161236000-161236600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:161236000-161236800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:161236000-161236800	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr1:161236000-161237200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:161236000-161237200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:161236000-161237200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:161236000-161237400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr1:161236000-161237400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:161236000-161237400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr1:161236000-161237400	Enhancers	Pancreas	Pancrea

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