Variant report

Variant	rs60384758
Chromosome Location	chr2:182641842-182641843
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182637961..182640711-chr2:182640767..182642873,2	MCF-7	breast:
2	chr2:182640852..182647278-chr2:182753659..182759466,8	MCF-7	breast:
3	chr2:182640621..182643492-chr2:182733143..182735326,2	K562	blood:
4	chr2:182641582..182643700-chr2:182645363..182647512,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260742	Chromatin interaction
ENSG00000138434	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10183527	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183937	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10190772	0.95[ASN][1000 genomes]
rs10803953	0.90[ASN][1000 genomes]
rs10930979	0.94[ASN][1000 genomes]
rs11884097	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886921	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11895376	0.95[ASN][1000 genomes]
rs11901603	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902910	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13414894	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13415272	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13424337	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428496	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1343793	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037799	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2368225	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2582999	0.93[ASN][1000 genomes]
rs4018749	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4508561	0.80[ASN][1000 genomes]
rs57930770	0.88[ASN][1000 genomes]
rs6740944	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6754481	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567220	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567371	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7595805	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9288073	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288074	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937296	0.82[ASN][1000 genomes]
rs951542	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951543	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182636400-182645800	Weak transcription	Pancreas	Pancrea
2	chr2:182638600-182643400	Weak transcription	Placenta	Placenta
3	chr2:182639200-182644000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:182639600-182643400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:182639800-182643200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:182640000-182642200	Weak transcription	NHEK	skin
7	chr2:182640000-182642400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:182640000-182642400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:182640000-182642600	Weak transcription	HMEC	breast
10	chr2:182640000-182643000	Weak transcription	Osteobl	bone
11	chr2:182640000-182643200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:182640000-182643400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:182640000-182643400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:182640000-182643400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:182640000-182643400	Weak transcription	NHDF-Ad	bronchial
16	chr2:182640000-182644400	Weak transcription	HSMM	muscle
17	chr2:182640000-182644400	Weak transcription	HSMMtube	muscle
18	chr2:182640000-182645000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:182640200-182642200	Weak transcription	Hela-S3	cervix
20	chr2:182640200-182644800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:182640600-182646400	Enhancers	HUVEC	blood vessel
22	chr2:182640800-182644400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:182641400-182642400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:182641400-182642400	Weak transcription	Fetal Kidney	kidney
25	chr2:182641400-182643400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:182641600-182643200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:182641600-182643400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:182641600-182644200	Weak transcription	Spleen	Spleen
29	chr2:182641800-182642000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:182641800-182649600	Enhancers	Fetal Intestine Large	intestine
31	chr2:182641800-182650000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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