Variant report

Variant	rs4613221
Chromosome Location	chr2:153334141-153334142
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153333966..153336557-chr2:153346831..153349647,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10166703	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10173398	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10193625	0.97[ASN][1000 genomes]
rs10195380	0.96[ASN][1000 genomes]
rs10432494	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11892232	0.95[ASN][1000 genomes]
rs11892859	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11893683	0.95[ASN][1000 genomes]
rs12614608	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12617686	0.96[ASN][1000 genomes]
rs12623070	0.97[ASN][1000 genomes]
rs2068886	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2346204	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2881336	0.96[ASN][1000 genomes]
rs4471845	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664585	0.80[AMR][1000 genomes]
rs6736639	0.93[ASN][1000 genomes]
rs6737006	0.92[ASN][1000 genomes]
rs7425826	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7590079	0.92[ASN][1000 genomes]
rs9288103	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv875292	chr2:153308471-153357383	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2830258	chr2:153318339-153349165	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153324800-153340000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:153326200-153334200	Enhancers	Brain Anterior Caudate	brain
3	chr2:153326200-153339200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:153326200-153345800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:153328600-153334600	Enhancers	Brain Substantia Nigra	brain
6	chr2:153329000-153337200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:153329000-153337800	Weak transcription	Fetal Stomach	stomach
8	chr2:153329200-153340000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:153329400-153337600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:153329400-153338000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:153329600-153337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:153329600-153338200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:153329600-153338200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:153329600-153340000	Weak transcription	Ovary	ovary
15	chr2:153330200-153337200	Weak transcription	Fetal Kidney	kidney
16	chr2:153330200-153339400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:153330800-153334600	Enhancers	HepG2	liver
18	chr2:153330800-153336200	Weak transcription	Pancreas	Pancrea
19	chr2:153330800-153337200	Weak transcription	Fetal Lung	lung
20	chr2:153330800-153337200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:153330800-153342400	Weak transcription	Stomach Mucosa	stomach
22	chr2:153330800-153347400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:153331200-153337800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:153332200-153334600	Enhancers	Brain Hippocampus Middle	brain
25	chr2:153332400-153334200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:153332400-153334400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:153332400-153334400	Enhancers	Brain Angular Gyrus	brain
28	chr2:153332400-153334400	Enhancers	Brain Cingulate Gyrus	brain
29	chr2:153332400-153334600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:153332400-153334600	Enhancers	NHEK	skin
31	chr2:153332800-153338000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:153333000-153342200	Weak transcription	Adipose Nuclei	Adipose
33	chr2:153333200-153335600	Weak transcription	Aorta	Aorta
34	chr2:153333600-153334200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr2:153333800-153334400	Enhancers	Psoas Muscle	Psoas
36	chr2:153333800-153334600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:153334000-153334200	Flanking Active TSS	A549	lung
38	chr2:153334000-153334200	Enhancers	HMEC	breast
39	chr2:153334000-153334400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:153334000-153334400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:153334000-153334400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:153334000-153334400	Enhancers	Hela-S3	cervix
43	chr2:153334000-153334400	Enhancers	Osteobl	bone
44	chr2:153334000-153334600	Enhancers	Liver	Liver

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