Variant report

Variant	rs233076
Chromosome Location	chr1:85809988-85809989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85809642..85811064-chr1:85864019..85865015,8	MCF-7	breast:
2	chr1:85809656..85810579-chr1:86046914..86047542,3	MCF-7	breast:
3	chr1:85809927..85811661-chr1:85958885..85960854,2	MCF-7	breast:
4	chr1:85808320..85810414-chr1:86046436..86048176,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142871	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs233048	0.95[AFR][1000 genomes]
rs233049	0.95[AFR][1000 genomes]
rs233056	1.00[AFR][1000 genomes]
rs233065	1.00[AFR][1000 genomes]
rs233073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233077	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233082	0.95[AFR][1000 genomes]
rs233089	0.95[AFR][1000 genomes]
rs233092	0.95[AFR][1000 genomes]
rs233096	0.95[AFR][1000 genomes]
rs233110	0.89[AFR][1000 genomes]
rs233123	0.95[AFR][1000 genomes]
rs414484	1.00[AFR][1000 genomes]
rs641864	0.84[AFR][1000 genomes]
rs6685360	0.84[AFR][1000 genomes]
rs684569	0.84[AFR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85798800-85824800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:85798800-85824800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:85799000-85813600	Weak transcription	Fetal Intestine Large	intestine
4	chr1:85800400-85815000	Weak transcription	Fetal Intestine Small	intestine
5	chr1:85804800-85811000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr1:85805800-85811400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:85806000-85810400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:85806400-85815800	Weak transcription	Pancreas	Pancrea
9	chr1:85806600-85813600	Weak transcription	Left Ventricle	heart
10	chr1:85806600-85814200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:85806800-85810200	Weak transcription	Lung	lung
12	chr1:85807400-85811000	Enhancers	NH-A	brain
13	chr1:85807600-85810000	Enhancers	HSMMtube	muscle
14	chr1:85807600-85810200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:85807600-85810600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:85807600-85810600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:85807600-85811000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:85807600-85811200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:85807600-85812200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:85807600-85813400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:85807800-85810000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr1:85807800-85810200	Enhancers	NHLF	lung
23	chr1:85807800-85810600	Enhancers	HMEC	breast
24	chr1:85807800-85811000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr1:85807800-85811600	Enhancers	Osteobl	bone
26	chr1:85808000-85810400	Enhancers	NHDF-Ad	bronchial
27	chr1:85808000-85810600	Enhancers	NHEK	skin
28	chr1:85808200-85810400	Enhancers	Hela-S3	cervix
29	chr1:85808200-85810600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:85808200-85811200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:85808200-85815800	Weak transcription	Aorta	Aorta
32	chr1:85808400-85810200	Enhancers	Colon Smooth Muscle	Colon
33	chr1:85808400-85810600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:85808400-85810600	Enhancers	Adipose Nuclei	Adipose
35	chr1:85808400-85811200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:85808400-85816000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr1:85808600-85810400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:85808600-85813600	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:85808800-85810200	Enhancers	Brain Germinal Matrix	brain
40	chr1:85808800-85810400	Enhancers	Liver	Liver
41	chr1:85808800-85810600	Enhancers	A549	lung
42	chr1:85808800-85811000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:85809000-85810200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:85809000-85810400	Enhancers	Fetal Heart	heart
45	chr1:85809000-85810400	Enhancers	HepG2	liver
46	chr1:85809000-85811000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:85809000-85815800	Weak transcription	Ovary	ovary
48	chr1:85809200-85810200	Enhancers	Primary hematopoietic stem cells	blood
49	chr1:85809200-85810200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:85809200-85810600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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