Variant report

Variant	rs233084
Chromosome Location	chr1:85818522-85818523
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs182845	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs20862	0.89[AFR][1000 genomes]
rs233043	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233044	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233063	0.89[AFR][1000 genomes]
rs233064	0.88[YRI][hapmap];0.87[AFR][1000 genomes]
rs233083	1.00[AMR][1000 genomes]
rs233085	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233086	1.00[AMR][1000 genomes]
rs233088	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233090	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233094	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233122	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs233126	0.85[AFR][1000 genomes]
rs233129	0.89[AFR][1000 genomes]
rs2474121	1.00[YRI][hapmap];0.89[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:62 , 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	chr1:85809200-85826000	Weak transcription	Fetal Brain Female	brain
4	chr1:85809200-85838400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:85809400-85826800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:85809400-85826800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:85809600-85828800	Weak transcription	Brain Anterior Caudate	brain
8	chr1:85809800-85819000	Weak transcription	Brain Angular Gyrus	brain
9	chr1:85809800-85825400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:85809800-85826000	Weak transcription	Stomach Mucosa	stomach
11	chr1:85810200-85823600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:85810600-85819600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:85810600-85825000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:85811000-85819600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:85811200-85818600	Strong transcription	HSMM	muscle
16	chr1:85811200-85819600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:85811200-85822800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:85813200-85818800	Strong transcription	Osteobl	bone
19	chr1:85814000-85824800	Weak transcription	Psoas Muscle	Psoas
20	chr1:85814200-85824800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:85814200-85839600	Weak transcription	Left Ventricle	heart
22	chr1:85814400-85824800	Weak transcription	Gastric	stomach
23	chr1:85815400-85824600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:85816000-85831400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:85816000-85839600	Weak transcription	Pancreas	Pancrea
26	chr1:85816200-85819000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:85816200-85826000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:85816400-85819000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:85816400-85829000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:85816600-85819800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:85816600-85822400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:85816600-85824200	Weak transcription	Right Ventricle	heart
33	chr1:85816600-85824800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:85816600-85824800	Weak transcription	Aorta	Aorta
35	chr1:85816600-85825000	Weak transcription	Esophagus	oesophagus
36	chr1:85816600-85826600	Weak transcription	Adipose Nuclei	Adipose
37	chr1:85816600-85826800	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:85816600-85827400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:85816600-85836800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:85816800-85819200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr1:85816800-85826800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:85817000-85819600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:85817000-85819600	Weak transcription	NHDF-Ad	bronchial
44	chr1:85817000-85819800	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:85817000-85821200	Weak transcription	Liver	Liver
46	chr1:85817000-85822400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:85817200-85824600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:85817600-85824600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:85818000-85818800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:85818000-85824600	Weak transcription	NHLF	lung

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