Variant report

Variant	rs130301
Chromosome Location	chr22:33234199-33234200
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33232248..33234896-chr22:33237867..33240280,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs107614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs130290	1.00[CHB][hapmap];0.80[AMR][1000 genomes]
rs130293	1.00[CHB][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs130302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs130305	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130527	1.00[ASW][hapmap]
rs130529	1.00[ASW][hapmap]
rs135026	1.00[CHB][hapmap]
rs135028	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs135153	1.00[ASW][hapmap];0.88[TSI][hapmap]
rs171383	1.00[CHB][hapmap];0.80[AMR][1000 genomes]
rs181425	1.00[CHB][hapmap];0.80[AMR][1000 genomes]
rs242084	0.80[AMR][1000 genomes]
rs242087	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs25027	0.80[AMR][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	nsv3599	chr22:33230106-33274789	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr22:33211000-33240400	Genic enhancers	Left Ventricle	heart
2	chr22:33217800-33248600	Weak transcription	Gastric	stomach
3	chr22:33222200-33236000	Enhancers	Right Atrium	heart
4	chr22:33222600-33240400	Genic enhancers	Adipose Nuclei	Adipose
5	chr22:33222600-33258800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr22:33222800-33238200	Genic enhancers	Fetal Muscle Leg	muscle
7	chr22:33223400-33235400	Weak transcription	Fetal Intestine Large	intestine
8	chr22:33224800-33234200	Weak transcription	Fetal Kidney	kidney
9	chr22:33226200-33236200	Weak transcription	Fetal Intestine Small	intestine
10	chr22:33226600-33235600	Weak transcription	NH-A	brain
11	chr22:33226600-33238000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr22:33226600-33238400	Enhancers	Fetal Heart	heart
13	chr22:33227000-33235000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr22:33227000-33272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr22:33227200-33234200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr22:33227400-33235400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:33227600-33237200	Strong transcription	HepG2	liver
18	chr22:33227600-33248800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr22:33227600-33249400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr22:33227800-33236800	Weak transcription	Liver	Liver
21	chr22:33227800-33252200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr22:33227800-33253200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr22:33228000-33234200	Weak transcription	Fetal Lung	lung
24	chr22:33228000-33236800	Weak transcription	Brain Angular Gyrus	brain
25	chr22:33228000-33245000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr22:33228000-33252200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:33228000-33252600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr22:33228600-33235600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr22:33228800-33236800	Genic enhancers	Right Ventricle	heart
30	chr22:33229000-33235400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr22:33230800-33234600	Strong transcription	HSMM	muscle
32	chr22:33231200-33245400	Weak transcription	NHLF	lung
33	chr22:33231600-33234400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr22:33231800-33240400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr22:33232200-33237400	Enhancers	Rectal Smooth Muscle	rectum
36	chr22:33232200-33239800	Genic enhancers	Fetal Stomach	stomach
37	chr22:33232400-33235800	Enhancers	Spleen	Spleen
38	chr22:33232400-33236000	Genic enhancers	Placenta Amnion	Placenta Amnion
39	chr22:33232400-33239200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr22:33232400-33245600	Weak transcription	HSMMtube	muscle
41	chr22:33232600-33234200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr22:33232600-33234200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr22:33232600-33235400	Enhancers	Esophagus	oesophagus
44	chr22:33232600-33235800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr22:33232600-33236000	Genic enhancers	Placenta	Placenta
46	chr22:33232600-33236000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr22:33232600-33237400	Genic enhancers	Fetal Muscle Trunk	muscle
48	chr22:33232600-33237600	Enhancers	Brain Anterior Caudate	brain
49	chr22:33232600-33238400	Genic enhancers	Lung	lung
50	chr22:33232800-33235000	Weak transcription	Colonic Mucosa	Colon

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