Variant report

Variant	rs1512414
Chromosome Location	chr6:13276415-13276416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:13276288-13276730	GM12878	blood:	n/a	n/a
2	ELF1	chr6:13276020-13276449	K562	blood:	n/a	chr6:13276243-13276256
3	ATF3	chr6:13276199-13276660	K562	blood:	n/a	n/a
4	POLR2A	chr6:13276413-13276539	K562	blood:	n/a	n/a
5	CBX3	chr6:13276323-13276631	K562	blood:	n/a	n/a
6	MAX	chr6:13276348-13276621	K562	blood:	n/a	n/a
7	UBTF	chr6:13276377-13276577	K562	blood:	n/a	n/a
8	RCOR1	chr6:13275515-13276686	K562	blood:	n/a	n/a
9	NR2F2	chr6:13275821-13276756	K562	blood:	n/a	n/a
10	YY1	chr6:13276360-13276587	K562	blood:	n/a	n/a
11	JUN	chr6:13272018-13276804	K562	blood:	n/a	chr6:13276647-13276657
12	CCNT2	chr6:13276329-13276692	K562	blood:	n/a	chr6:13276669-13276678
13	POLR2A	chr6:13272223-13276600	GM12878	blood:	n/a	n/a
14	BACH1	chr6:13276214-13276526	K562	blood:	n/a	n/a
15	EGR1	chr6:13276336-13276658	K562	blood:	n/a	chr6:13276562-13276572
16	NR2F2	chr6:13272645-13276785	K562	blood:	n/a	n/a
17	ARID3A	chr6:13275951-13276552	K562	blood:	n/a	n/a
18	MAFK	chr6:13275435-13276639	K562	blood:	n/a	n/a
19	GATA2	chr6:13276134-13276612	K562	blood:	n/a	n/a
20	MAX	chr6:13276234-13276751	K562	blood:	n/a	n/a
21	POLR2A	chr6:13276216-13276691	K562	blood:	n/a	n/a
22	JUN	chr6:13276020-13276469	K562	blood:	n/a	n/a
23	POLR2A	chr6:13271496-13276674	K562	blood:	n/a	n/a
24	ZNF384	chr6:13275392-13276623	K562	blood:	n/a	n/a
25	MAFF	chr6:13275616-13276591	K562	blood:	n/a	n/a
26	TBL1XR1	chr6:13276236-13276676	K562	blood:	n/a	n/a
27	POLR2A	chr6:13276295-13276767	K562	blood:	n/a	n/a
28	IRF1	chr6:13275989-13276548	K562	blood:	n/a	n/a
29	CTCF	chr6:13276407-13276494	K562	blood:	n/a	n/a
30	TEAD4	chr6:13275560-13276801	K562	blood:	n/a	n/a
31	CBX3	chr6:13275271-13276781	K562	blood:	n/a	n/a
32	MYC	chr6:13275451-13276633	K562	blood:	n/a	n/a
33	CUX1	chr6:13276326-13276538	K562	blood:	n/a	n/a
34	HDAC2	chr6:13276251-13276680	K562	blood:	n/a	n/a
35	ZBTB7A	chr6:13276367-13276601	K562	blood:	n/a	n/a
36	POLR2A	chr6:13272116-13276591	GM12891	blood:	n/a	n/a
37	TAL1	chr6:13276338-13276577	K562	blood:	n/a	n/a
38	MAZ	chr6:13276304-13276618	K562	blood:	n/a	n/a
39	HCFC1	chr6:13276337-13276587	K562	blood:	n/a	n/a
40	WRNIP1	chr6:13276366-13276564	GM12878	blood:	n/a	n/a
41	MYC	chr6:13275652-13276619	K562	blood:	n/a	n/a
42	EP300	chr6:13275899-13276691	K562	blood:	n/a	n/a
43	BHLHE40	chr6:13275880-13276618	K562	blood:	n/a	n/a
44	JUND	chr6:13275312-13276672	K562	blood:	n/a	chr6:13276647-13276657
45	RCOR1	chr6:13275342-13276719	K562	blood:	n/a	n/a
46	TBP	chr6:13276292-13276833	K562	blood:	n/a	n/a
47	MAX	chr6:13276313-13276694	K562	blood:	n/a	n/a
48	ZNF143	chr6:13275866-13276582	K562	blood:	n/a	n/a
49	ZMIZ1	chr6:13276037-13276621	K562	blood:	n/a	n/a
50	IRF1	chr6:13275946-13276626	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13268970..13278598-chr6:13326296..13332818,15	K562	blood:
2	chr6:13274897..13277892-chr6:13326296..13329891,5	K562	blood:
3	chr6:13125100..13126853-chr6:13276005..13277621,2	K562	blood:
4	chr6:13274000..13275754-chr6:13276034..13278687,2	MCF-7	breast:
5	chr6:13274736..13276491-chr6:13282500..13284996,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000215022	TF binding region
PHACTR1	TF binding region
ENSG00000145979	Chromatin interaction
ENSG00000215022	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1150623	0.82[EUR][1000 genomes]
rs1223398	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2002961	0.90[JPT][hapmap]
rs202042	0.87[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs202044	0.87[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs202045	0.87[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs202046	0.86[ASN][1000 genomes]
rs202051	0.84[CHD][hapmap];0.95[JPT][hapmap]
rs202053	0.82[CHD][hapmap];0.84[JPT][hapmap]
rs2119485	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2235173	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34148691	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs375661	0.83[ASN][1000 genomes]
rs377704	0.87[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap]
rs3817735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3846903	0.86[LWK][hapmap];0.82[YRI][hapmap]
rs3857594	0.90[JPT][hapmap]
rs405078	0.87[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs441213	0.83[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap]
rs445714	0.87[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs495895	0.83[ASN][1000 genomes]
rs6909879	0.90[JPT][hapmap]
rs7755309	0.90[JPT][hapmap]
rs878700	0.90[JPT][hapmap]
rs909508	0.90[JPT][hapmap]
rs9296641	0.90[JPT][hapmap]
rs9296642	0.90[JPT][hapmap]
rs9349548	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9349549	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9369978	0.90[JPT][hapmap]
rs9473908	0.89[JPT][hapmap]
rs9473909	0.90[JPT][hapmap]

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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1512414	EDN1	cis	parietal	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13249800-13287000	Weak transcription	Fetal Brain Male	brain
2	chr6:13256600-13278200	Weak transcription	Pancreas	Pancrea
3	chr6:13267400-13280400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:13267400-13283600	Weak transcription	Fetal Brain Female	brain
5	chr6:13268000-13278800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:13268000-13283600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:13269200-13282000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:13269400-13284800	Weak transcription	Right Atrium	heart
9	chr6:13269600-13286600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:13269600-13286600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr6:13270200-13291600	Weak transcription	HSMM	muscle
12	chr6:13270400-13282000	Weak transcription	Ovary	ovary
13	chr6:13270400-13285400	Weak transcription	Fetal Heart	heart
14	chr6:13270600-13281000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr6:13270600-13283600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:13271600-13287200	Weak transcription	Fetal Lung	lung
17	chr6:13272400-13276600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:13273000-13277200	Weak transcription	Lung	lung
19	chr6:13273000-13277800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:13273000-13283600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:13273200-13277200	Weak transcription	Left Ventricle	heart
22	chr6:13273400-13286800	Weak transcription	Liver	Liver
23	chr6:13273600-13277600	Weak transcription	Fetal Stomach	stomach
24	chr6:13273800-13277400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:13273800-13277400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr6:13273800-13279400	Weak transcription	Brain Angular Gyrus	brain
27	chr6:13273800-13280400	Weak transcription	Fetal Muscle Leg	muscle
28	chr6:13273800-13291400	Weak transcription	Psoas Muscle	Psoas
29	chr6:13274000-13277800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr6:13274000-13282600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:13274000-13283800	Weak transcription	Brain Substantia Nigra	brain
32	chr6:13274200-13276600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:13274400-13277400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr6:13274400-13277600	Weak transcription	Brain Anterior Caudate	brain
35	chr6:13274400-13286800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:13274400-13287200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr6:13274400-13289200	Weak transcription	HSMMtube	muscle
38	chr6:13274600-13279400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:13274600-13286200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr6:13274600-13286800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr6:13274600-13302000	Weak transcription	Small Intestine	intestine
42	chr6:13274800-13277600	Weak transcription	Aorta	Aorta
43	chr6:13274800-13278000	Weak transcription	Fetal Thymus	thymus
44	chr6:13274800-13286600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr6:13274800-13287000	Weak transcription	Thymus	Thymus
46	chr6:13274800-13292800	Weak transcription	Colon Smooth Muscle	Colon
47	chr6:13275000-13276800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:13275000-13277400	Weak transcription	HepG2	liver
49	chr6:13275000-13278000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr6:13275000-13280400	Weak transcription	Primary T cells fromperipheralblood	blood

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