Variant report

Variant	rs2932771
Chromosome Location	chr5:68515063-68515064
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68513358..68515252-chr5:68629266..68631706,2	K562	blood:
2	chr5:68471354..68475028-chr5:68512445..68515750,4	K562	blood:
3	chr5:68514007..68516074-chr5:68664468..68668135,3	K562	blood:
4	chr5:68484254..68487485-chr5:68512131..68515372,4	K562	blood:
5	chr5:68512355..68516868-chr5:68528060..68533660,10	K562	blood:
6	chr5:68461458..68463761-chr5:68512888..68515184,2	MCF-7	breast:
7	chr5:68388388..68391466-chr5:68512032..68515267,4	MCF-7	breast:
8	chr5:68514651..68516753-chr5:68670108..68672785,2	K562	blood:
9	chr5:68514182..68515689-chr5:68624413..68626099,2	MCF-7	breast:
10	chr5:68512209..68515422-chr5:68529314..68532677,7	MCF-7	breast:
11	chr5:68512355..68517480-chr5:68528060..68532261,10	K562	blood:
12	chr5:68514852..68516852-chr5:68553089..68555836,2	K562	blood:
13	chr5:68461057..68464340-chr5:68513596..68515366,3	K562	blood:
14	chr5:68483023..68488056-chr5:68511952..68517380,10	K562	blood:
15	chr5:68388860..68391967-chr5:68513712..68515652,4	K562	blood:
16	chr5:68513382..68515686-chr5:68665012..68667135,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215006	Chromatin interaction
ENSG00000145740	Chromatin interaction
ENSG00000085231	Chromatin interaction
ENSG00000238334	Chromatin interaction
ENSG00000153044	Chromatin interaction
ENSG00000134058	Chromatin interaction
ENSG00000134057	Chromatin interaction
ENSG00000152942	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs100192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10940209	0.81[ASN][1000 genomes]
rs11742461	0.90[ASN][1000 genomes]
rs11744596	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11745578	0.90[ASN][1000 genomes]
rs11748974	0.80[ASN][1000 genomes]
rs12659146	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13175606	0.95[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs151589	0.83[ASN][1000 genomes]
rs163442	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs163443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs163444	0.95[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs164386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs164388	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs164389	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs164390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs164715	0.83[ASN][1000 genomes]
rs1683831	0.92[ASN][1000 genomes]
rs184747	0.83[ASN][1000 genomes]
rs2002825	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2130757	0.81[ASN][1000 genomes]
rs2171148	0.81[ASN][1000 genomes]
rs2172056	0.81[ASN][1000 genomes]
rs2242351	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291519	0.81[ASN][1000 genomes]
rs2291520	0.81[ASN][1000 genomes]
rs239591	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2450230	0.84[ASN][1000 genomes]
rs2450246	0.90[CHB][hapmap];0.87[JPT][hapmap]
rs2637128	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2637129	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28506805	0.92[ASN][1000 genomes]
rs28576332	0.90[ASN][1000 genomes]
rs28693971	0.90[ASN][1000 genomes]
rs2913707	0.83[ASN][1000 genomes]
rs2930944	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930945	0.85[ASN][1000 genomes]
rs2930946	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930949	0.81[ASN][1000 genomes]
rs2930951	0.81[ASN][1000 genomes]
rs2932770	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932772	0.85[ASN][1000 genomes]
rs2932773	0.85[ASN][1000 genomes]
rs2932775	0.85[ASN][1000 genomes]
rs2932776	0.85[ASN][1000 genomes]
rs2932777	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932778	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2932780	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2932782	0.80[ASN][1000 genomes]
rs2932783	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972358	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972361	0.81[ASN][1000 genomes]
rs2972366	0.81[ASN][1000 genomes]
rs2972373	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972374	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972381	0.81[ASN][1000 genomes]
rs2972386	0.81[ASN][1000 genomes]
rs2972387	0.81[ASN][1000 genomes]
rs2972388	0.80[ASN][1000 genomes]
rs2972390	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34845020	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs350093	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs350094	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs350095	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs350099	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs350105	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs350107	0.95[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs350109	0.84[ASN][1000 genomes]
rs350115	0.83[ASN][1000 genomes]
rs350119	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs350120	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs350123	0.85[ASN][1000 genomes]
rs350124	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350125	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs351424	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs352626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs353656	0.82[ASN][1000 genomes]
rs375285	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs376768	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs379434	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs386640	0.83[ASN][1000 genomes]
rs389686	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs389938	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs390169	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs395122	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs419902	0.83[ASN][1000 genomes]
rs4266362	0.82[ASN][1000 genomes]
rs437665	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs444305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs476125	0.92[ASN][1000 genomes]
rs4976159	0.91[ASN][1000 genomes]
rs4976188	0.91[ASN][1000 genomes]
rs648489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs651076	0.90[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs676879	0.81[ASN][1000 genomes]
rs6862253	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs693725	0.95[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs7719040	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs875459	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[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	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3378789	chr5:68438275-68540725	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2932771	MRPS36	cis	multi-tissue	Pritchard
rs2932771	MRPS36	Cis_1M	lymphoblastoid	RTeQTL
rs2932771	CCDC125	cis	Muscle Skeletal	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68512400-68515200	Active TSS	A549	lung
2	chr5:68512400-68515200	Active TSS	Hela-S3	cervix
3	chr5:68512800-68515200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr5:68513000-68515200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr5:68513000-68515200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr5:68513000-68515200	Active TSS	Fetal Kidney	kidney
7	chr5:68513000-68515200	Active TSS	Stomach Smooth Muscle	stomach
8	chr5:68513000-68515400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:68513200-68515200	Active TSS	Right Ventricle	heart
10	chr5:68513600-68515200	Active TSS	Left Ventricle	heart
11	chr5:68514000-68515400	Active TSS	Right Atrium	heart
12	chr5:68514200-68515200	Flanking Active TSS	Dnd41	blood
13	chr5:68514200-68530200	Weak transcription	Small Intestine	intestine
14	chr5:68514200-68530200	Weak transcription	Spleen	Spleen
15	chr5:68514400-68515200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:68514400-68515200	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr5:68514400-68515400	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr5:68514400-68515400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr5:68514400-68515400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr5:68514400-68515600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:68514400-68515600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:68514400-68515600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr5:68514400-68515600	Enhancers	Brain Substantia Nigra	brain
24	chr5:68514400-68515800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:68514400-68515800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr5:68514400-68520400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr5:68514400-68520400	Weak transcription	Lung	lung
28	chr5:68514400-68521800	Weak transcription	Placenta	Placenta
29	chr5:68514400-68523000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr5:68514400-68523600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:68514400-68530200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:68514400-68530200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr5:68514400-68530200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:68514400-68530200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:68514400-68530200	Weak transcription	Aorta	Aorta
36	chr5:68514400-68530200	Weak transcription	Esophagus	oesophagus
37	chr5:68514400-68530200	Weak transcription	Gastric	stomach
38	chr5:68514400-68530200	Weak transcription	Pancreas	Pancrea
39	chr5:68514400-68530200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr5:68514600-68515200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr5:68514600-68515200	Enhancers	Primary B cells from cord blood	blood
42	chr5:68514600-68515200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr5:68514600-68515200	Enhancers	Fetal Brain Male	brain
44	chr5:68514600-68515200	Enhancers	Fetal Lung	lung
45	chr5:68514600-68515200	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr5:68514600-68515400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr5:68514600-68515400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr5:68514600-68515400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:68514600-68515400	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr5:68514600-68515400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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