Variant report

Variant	rs34901
Chromosome Location	chr5:95004483-95004484
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:94981743..94984160-chr5:95003178..95007454,4	MCF-7	breast:
2	chr5:94977116..95012475-chr5:95055682..95079552,215	K562	blood:
3	chr5:95002978..95007140-chr5:95040184..95043277,3	MCF-7	breast:
4	chr5:94980512..95018354-chr5:95057997..95080764,228	K562	blood:
5	chr5:95002921..95004601-chr5:95084426..95086645,2	K562	blood:
6	chr5:95004095..95005958-chr5:95033520..95035303,2	K562	blood:
7	chr5:94998665..95005080-chr5:95065235..95073616,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250240	Chromatin interaction
ENSG00000145757	Chromatin interaction
ENSG00000175449	Chromatin interaction
ENSG00000164292	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12658215	0.82[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs150548	0.81[JPT][hapmap]
rs150549	0.81[JPT][hapmap]
rs150550	0.85[JPT][hapmap]
rs183327	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs185313	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213510	0.81[JPT][hapmap]
rs213512	0.81[JPT][hapmap]
rs213880	0.90[JPT][hapmap]
rs2548121	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2548122	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40098	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs412026	0.81[JPT][hapmap]
rs460697	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs461873	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs462319	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs462944	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94983200-95005000	Weak transcription	Left Ventricle	heart
2	chr5:94983400-95005000	Weak transcription	Placenta	Placenta
3	chr5:94983600-95005000	Weak transcription	Adipose Nuclei	Adipose
4	chr5:94983800-95004800	Weak transcription	Psoas Muscle	Psoas
5	chr5:94984200-95007800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:94989000-95004800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:94991600-95005600	Weak transcription	Fetal Lung	lung
8	chr5:94992000-95004600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:95000400-95004600	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:95000400-95004800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:95000400-95005000	Weak transcription	Brain Angular Gyrus	brain
12	chr5:95000400-95005200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:95000600-95004600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:95000600-95004600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:95000600-95004800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:95000600-95004800	Weak transcription	Liver	Liver
17	chr5:95000600-95004800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:95000600-95004800	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:95000600-95005000	Weak transcription	Ovary	ovary
20	chr5:95000600-95005200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:95000600-95005200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:95000600-95005200	Weak transcription	Fetal Heart	heart
23	chr5:95000800-95005000	Weak transcription	Brain Substantia Nigra	brain
24	chr5:95003000-95005800	Enhancers	K562	blood
25	chr5:95003000-95007600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr5:95003400-95004600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:95003400-95006600	Enhancers	NHLF	lung
28	chr5:95003400-95007800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr5:95003600-95006000	Enhancers	HUVEC	blood vessel
30	chr5:95003800-95004600	Weak transcription	Fetal Stomach	stomach
31	chr5:95004000-95005000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr5:95004000-95005200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:95004000-95006800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:95004000-95007200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:95004200-95004800	Enhancers	Stomach Smooth Muscle	stomach
36	chr5:95004200-95005200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:95004200-95006000	Enhancers	NHDF-Ad	bronchial
38	chr5:95004200-95006200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:95004200-95006600	Enhancers	HSMM	muscle
40	chr5:95004200-95006600	Enhancers	NH-A	brain
41	chr5:95004200-95007000	Enhancers	Osteobl	bone
42	chr5:95004400-95005200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:95004400-95006400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr5:95004400-95006600	Enhancers	Rectal Smooth Muscle	rectum
45	chr5:95004400-95006800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:95004400-95007000	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr5:95004400-95008400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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