Variant report

Variant	rs183539
Chromosome Location	chr1:94068891-94068892
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94067522..94070009-chr1:94070817..94072858,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs171030	1.00[AMR][1000 genomes]
rs1772780	1.00[AMR][1000 genomes]
rs180499	1.00[AMR][1000 genomes]
rs236264	1.00[AMR][1000 genomes]
rs236269	1.00[AMR][1000 genomes]
rs236272	1.00[AMR][1000 genomes]
rs236276	1.00[AMR][1000 genomes]
rs236279	1.00[AMR][1000 genomes]
rs236282	1.00[AMR][1000 genomes]
rs236286	1.00[AMR][1000 genomes]
rs236289	1.00[AMR][1000 genomes]
rs236290	1.00[AMR][1000 genomes]
rs236294	1.00[AMR][1000 genomes]
rs236297	1.00[AMR][1000 genomes]
rs236298	1.00[AMR][1000 genomes]
rs236299	1.00[AMR][1000 genomes]
rs236314	1.00[AMR][1000 genomes]
rs236324	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs236325	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs236337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs236338	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs236339	1.00[EUR][1000 genomes]
rs236340	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59218301	1.00[EUR][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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
2	chr1:94057400-94069200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:94057400-94071000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:94057600-94106400	Weak transcription	Primary B cells from cord blood	blood
5	chr1:94060200-94078800	Weak transcription	Colonic Mucosa	Colon
6	chr1:94061200-94078800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:94062600-94070000	Weak transcription	Osteobl	bone
8	chr1:94062600-94073000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:94063600-94069600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:94064200-94069400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:94064400-94073800	Weak transcription	Aorta	Aorta
12	chr1:94064400-94074200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:94064800-94070400	Weak transcription	NH-A	brain
14	chr1:94064800-94073200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:94065000-94070000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:94065000-94070000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:94065000-94071000	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:94065000-94071200	Weak transcription	HUVEC	blood vessel
19	chr1:94065000-94073800	Weak transcription	Esophagus	oesophagus
20	chr1:94065000-94073800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:94065200-94069800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:94065200-94071000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:94065800-94070000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:94066000-94070000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:94066200-94069400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:94066200-94073800	Weak transcription	Fetal Stomach	stomach
27	chr1:94066400-94070400	Weak transcription	NHLF	lung
28	chr1:94066400-94079200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:94066400-94079600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:94066600-94069000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:94066600-94069000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:94066600-94069200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:94066600-94069200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr1:94066600-94069600	Strong transcription	Hela-S3	cervix
35	chr1:94066600-94070200	Weak transcription	Adipose Nuclei	Adipose
36	chr1:94066600-94070600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:94066600-94072400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr1:94066600-94073000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:94066800-94069200	Weak transcription	Brain Hippocampus Middle	brain
40	chr1:94066800-94070400	Weak transcription	Pancreas	Pancrea
41	chr1:94066800-94070800	Weak transcription	Brain Anterior Caudate	brain
42	chr1:94067200-94070200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:94067200-94070600	Weak transcription	Gastric	stomach
44	chr1:94067200-94071800	Weak transcription	Liver	Liver
45	chr1:94067200-94072000	Weak transcription	Right Ventricle	heart
46	chr1:94067400-94069000	Weak transcription	HMEC	breast
47	chr1:94067400-94069600	Weak transcription	A549	lung
48	chr1:94067400-94069600	Strong transcription	HepG2	liver
49	chr1:94067600-94069000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:94067600-94070800	Strong transcription	NHEK	skin

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