Variant report

Variant	rs16956273
Chromosome Location	chr15:72117102-72117103
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	chr15:72114514..72117570-chr15:72121768..72126233,5	K562	blood:
2	chr15:72114756..72117570-chr15:72121348..72123847,3	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1074330	0.82[CEU][hapmap]
rs10851847	0.84[EUR][1000 genomes]
rs11633167	0.89[CEU][hapmap]
rs11634608	0.89[CEU][hapmap];0.92[GIH][hapmap]
rs12439494	0.94[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12898728	0.83[ASN][1000 genomes]
rs12898868	0.83[ASN][1000 genomes]
rs12902006	0.82[CEU][hapmap]
rs12903980	0.80[AMR][1000 genomes]
rs12912771	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12916951	0.82[CEU][hapmap]
rs1481860	0.82[EUR][1000 genomes]
rs1481861	0.83[EUR][1000 genomes]
rs16956241	0.80[AMR][1000 genomes]
rs2246225	0.82[CEU][hapmap]
rs2306576	0.89[CEU][hapmap];0.86[GIH][hapmap];0.80[TSI][hapmap]
rs2415120	0.89[CEU][hapmap];0.87[GIH][hapmap];0.82[TSI][hapmap]
rs2415128	0.84[CEU][hapmap];0.92[GIH][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs2723343	0.82[CEU][hapmap]
rs2742323	0.88[CEU][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes]
rs2929508	0.92[CEU][hapmap]
rs2929528	0.83[EUR][1000 genomes]
rs2957368	0.81[EUR][1000 genomes]
rs2957373	0.81[EUR][1000 genomes]
rs2957724	0.89[CEU][hapmap]
rs2957725	0.94[CEU][hapmap];0.91[CHB][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs2957734	0.88[CEU][hapmap];0.92[GIH][hapmap];0.80[TSI][hapmap]
rs2957735	0.88[CEU][hapmap];0.91[GIH][hapmap];0.80[TSI][hapmap]
rs2957737	0.94[CEU][hapmap];0.91[CHB][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs34085279	0.82[AMR][1000 genomes]
rs3784309	0.82[CEU][hapmap]
rs4777466	0.83[ASN][1000 genomes]
rs62023342	0.80[AMR][1000 genomes]
rs6494973	0.89[CEU][hapmap]
rs6494975	0.94[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs7177242	0.83[ASW][hapmap];0.94[CEU][hapmap];0.91[CHB][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs7183748	0.87[EUR][1000 genomes]
rs7403191	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7496582	0.89[CEU][hapmap]
rs7497104	0.88[CEU][hapmap];0.86[GIH][hapmap];0.80[TSI][hapmap]
rs8040216	0.86[CEU][hapmap];0.90[CHB][hapmap]
rs8178	0.88[CEU][hapmap];0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs8557	0.82[CEU][hapmap]
rs8747	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs982752	0.94[ASW][hapmap];0.94[CEU][hapmap];0.91[CHB][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16956273	SENP8	cis	cerebellum	SCAN
rs16956273	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 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	chr15:72114000-72117400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:72114200-72118600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:72114200-72118800	Weak transcription	Colonic Mucosa	Colon
12	chr15:72114200-72123200	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr15:72114400-72118000	Weak transcription	Brain Germinal Matrix	brain
14	chr15:72114400-72118600	Weak transcription	Brain Anterior Caudate	brain
15	chr15:72114600-72118000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:72114600-72118000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr15:72114600-72118000	Weak transcription	Fetal Kidney	kidney
18	chr15:72114600-72118600	Weak transcription	Brain Angular Gyrus	brain
19	chr15:72114600-72118600	Weak transcription	Gastric	stomach
20	chr15:72114600-72118800	Weak transcription	Brain Substantia Nigra	brain
21	chr15:72114600-72122600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr15:72114600-72124200	Strong transcription	Placenta	Placenta
23	chr15:72114600-72190600	Weak transcription	Pancreas	Pancrea
24	chr15:72114800-72118400	Weak transcription	NHLF	lung
25	chr15:72114800-72118600	Weak transcription	Fetal Intestine Small	intestine
26	chr15:72114800-72118800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr15:72114800-72122600	Strong transcription	Primary T cells from cord blood	blood
28	chr15:72114800-72124600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr15:72115000-72118400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:72115000-72118600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:72115200-72118600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr15:72115200-72123000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:72115400-72117200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr15:72115400-72118000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr15:72115400-72118600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr15:72115400-72118600	Weak transcription	Thymus	Thymus
37	chr15:72115400-72122800	Strong transcription	HSMM	muscle
38	chr15:72115600-72117600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:72115600-72118000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr15:72115600-72118400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr15:72115600-72118600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:72115600-72118600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr15:72115600-72118800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr15:72115600-72118800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr15:72115800-72117200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
46	chr15:72115800-72118000	Weak transcription	Right Ventricle	heart
47	chr15:72115800-72118600	Weak transcription	Fetal Intestine Large	intestine
48	chr15:72115800-72118600	Weak transcription	Psoas Muscle	Psoas
49	chr15:72115800-72118600	Weak transcription	Spleen	Spleen
50	chr15:72115800-72118800	Weak transcription	HUVEC	blood vessel

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