Variant report

Variant	rs28658271
Chromosome Location	chr15:72117467-72117468
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	chr15:72114514..72117570-chr15:72121768..72126233,5	K562	blood:
2	chr15:72114756..72117570-chr15:72121348..72123847,3	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11072341	0.82[EUR][1000 genomes]
rs1120002	0.86[EUR][1000 genomes]
rs11856068	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12437582	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12439689	0.91[EUR][1000 genomes]
rs12439773	0.91[EUR][1000 genomes]
rs12441470	0.86[EUR][1000 genomes]
rs12441567	0.86[EUR][1000 genomes]
rs12441622	0.86[EUR][1000 genomes]
rs12443127	0.86[EUR][1000 genomes]
rs12592806	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12593857	0.86[EUR][1000 genomes]
rs12593946	0.86[EUR][1000 genomes]
rs1471688	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1545825	0.82[EUR][1000 genomes]
rs16953747	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16956539	0.86[EUR][1000 genomes]
rs1805020	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805021	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1871834	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1905337	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1979459	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2277544	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2306575	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2415125	0.93[ASN][1000 genomes]
rs2415129	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2625526	0.92[ASN][1000 genomes]
rs2742318	0.81[ASN][1000 genomes]
rs28639924	0.91[EUR][1000 genomes]
rs28653163	0.91[EUR][1000 genomes]
rs28701834	0.86[EUR][1000 genomes]
rs2899774	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2929514	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2929515	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2929522	0.82[EUR][1000 genomes]
rs2929530	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2929531	0.82[EUR][1000 genomes]
rs2929533	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2957369	0.82[EUR][1000 genomes]
rs2957729	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2957730	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2957733	0.82[EUR][1000 genomes]
rs2957741	0.82[EUR][1000 genomes]
rs2957747	0.86[EUR][1000 genomes]
rs2957749	0.86[EUR][1000 genomes]
rs35696756	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35773391	0.86[EUR][1000 genomes]
rs3759812	0.86[EUR][1000 genomes]
rs3825869	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4511484	0.82[EUR][1000 genomes]
rs4776583	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4777472	0.87[ASN][1000 genomes]
rs6494976	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7162134	0.83[ASN][1000 genomes]
rs7164646	0.86[EUR][1000 genomes]
rs8032957	0.82[EUR][1000 genomes]
rs8033997	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8034436	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8034722	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8182066	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs981695	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9920148	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904334	chr15:71737376-72177659	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1036938	chr15:71948106-72272855	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72108000-72118600	Weak transcription	Fetal Brain Female	brain
2	chr15:72108600-72120600	Weak transcription	Fetal Brain Male	brain
3	chr15:72110600-72118200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:72110800-72122800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr15:72112200-72119200	ZNF genes & repeats	A549	lung
6	chr15:72112800-72118000	ZNF genes & repeats	Liver	Liver
7	chr15:72113000-72118600	Weak transcription	Colon Smooth Muscle	Colon
8	chr15:72113000-72118800	Weak transcription	Dnd41	blood
9	chr15:72114200-72118600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:72114200-72118800	Weak transcription	Colonic Mucosa	Colon
11	chr15:72114200-72123200	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr15:72114400-72118000	Weak transcription	Brain Germinal Matrix	brain
13	chr15:72114400-72118600	Weak transcription	Brain Anterior Caudate	brain
14	chr15:72114600-72118000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:72114600-72118000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr15:72114600-72118000	Weak transcription	Fetal Kidney	kidney
17	chr15:72114600-72118600	Weak transcription	Brain Angular Gyrus	brain
18	chr15:72114600-72118600	Weak transcription	Gastric	stomach
19	chr15:72114600-72118800	Weak transcription	Brain Substantia Nigra	brain
20	chr15:72114600-72122600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr15:72114600-72124200	Strong transcription	Placenta	Placenta
22	chr15:72114600-72190600	Weak transcription	Pancreas	Pancrea
23	chr15:72114800-72118400	Weak transcription	NHLF	lung
24	chr15:72114800-72118600	Weak transcription	Fetal Intestine Small	intestine
25	chr15:72114800-72118800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr15:72114800-72122600	Strong transcription	Primary T cells from cord blood	blood
27	chr15:72114800-72124600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr15:72115000-72118400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr15:72115000-72118600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr15:72115200-72118600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr15:72115200-72123000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:72115400-72118000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr15:72115400-72118600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr15:72115400-72118600	Weak transcription	Thymus	Thymus
35	chr15:72115400-72122800	Strong transcription	HSMM	muscle
36	chr15:72115600-72117600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:72115600-72118000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr15:72115600-72118400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr15:72115600-72118600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:72115600-72118600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr15:72115600-72118800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr15:72115600-72118800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr15:72115800-72118000	Weak transcription	Right Ventricle	heart
44	chr15:72115800-72118600	Weak transcription	Fetal Intestine Large	intestine
45	chr15:72115800-72118600	Weak transcription	Psoas Muscle	Psoas
46	chr15:72115800-72118600	Weak transcription	Spleen	Spleen
47	chr15:72115800-72118800	Weak transcription	HUVEC	blood vessel
48	chr15:72115800-72119000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr15:72115800-72119800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:72115800-72122600	Strong transcription	Monocytes-CD14+_RO01746	blood

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