Variant report

Variant	rs73016010
Chromosome Location	chr2:153336115-153336116
allele	C/T
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: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12104452	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12987348	1.00[EUR][1000 genomes]
rs12989840	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12991474	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12993239	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12999189	1.00[EUR][1000 genomes]
rs13011850	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13018434	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13021931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13023943	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs13027160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13027356	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13029667	1.00[EUR][1000 genomes]
rs13034458	1.00[EUR][1000 genomes]
rs34300140	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34332337	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34416306	1.00[EUR][1000 genomes]
rs34457645	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34504342	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34722196	1.00[EUR][1000 genomes]
rs35199259	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35472114	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35804350	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36108117	1.00[EUR][1000 genomes]
rs6434046	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6731516	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6745613	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71417227	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71417229	1.00[EUR][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:42 , 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	chr2:153326200-153339200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:153326200-153345800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:153329000-153337200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:153329000-153337800	Weak transcription	Fetal Stomach	stomach
6	chr2:153329200-153340000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:153329400-153337600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:153329400-153338000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:153329600-153337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:153329600-153338200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:153329600-153338200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:153329600-153340000	Weak transcription	Ovary	ovary
13	chr2:153330200-153337200	Weak transcription	Fetal Kidney	kidney
14	chr2:153330200-153339400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:153330800-153336200	Weak transcription	Pancreas	Pancrea
16	chr2:153330800-153337200	Weak transcription	Fetal Lung	lung
17	chr2:153330800-153337200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:153330800-153342400	Weak transcription	Stomach Mucosa	stomach
19	chr2:153330800-153347400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:153331200-153337800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:153332800-153338000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:153333000-153342200	Weak transcription	Adipose Nuclei	Adipose
23	chr2:153334200-153336800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:153334200-153337400	Weak transcription	Brain Anterior Caudate	brain
25	chr2:153334200-153340600	Weak transcription	HMEC	breast
26	chr2:153334400-153336600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:153334400-153338000	Weak transcription	Brain Angular Gyrus	brain
28	chr2:153334400-153338000	Weak transcription	Psoas Muscle	Psoas
29	chr2:153334400-153339000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:153334400-153339200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:153334400-153342400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:153334400-153353800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:153334600-153337200	Weak transcription	A549	lung
34	chr2:153334600-153338200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:153334600-153338200	Weak transcription	NHEK	skin
36	chr2:153334600-153338800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:153334600-153339200	Weak transcription	Liver	Liver
38	chr2:153335600-153336200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:153335800-153340600	Enhancers	Brain Substantia Nigra	brain
40	chr2:153335800-153341000	Enhancers	Brain Hippocampus Middle	brain
41	chr2:153336000-153336400	Weak transcription	HepG2	liver
42	chr2:153336000-153347600	Weak transcription	Aorta	Aorta

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