Variant report

Variant	rs1150741
Chromosome Location	chr6:30029651-30029652
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:138)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:138 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr6:30028324-30030090	MCF-7	breast:	n/a	n/a
2	CBX3	chr6:30029329-30030139	K562	blood:	n/a	n/a
3	POLR2A	chr6:30028676-30029824	GM12878	blood:	n/a	n/a
4	PML	chr6:30028399-30029917	GM12878	blood:	n/a	n/a
5	YY1	chr6:30029274-30029877	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:30028203-30030091	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:30028288-30029795	Hela-S3	cervix:	n/a	n/a
8	TAF1	chr6:30028642-30029790	PFSK-1	brain:	n/a	n/a
9	MAFK	chr6:30028377-30030142	K562	blood:	n/a	n/a
10	POLR2A	chr6:30028273-30029658	H1-neurons	neurons:	n/a	n/a
11	MBD4	chr6:30028291-30030076	HepG2	liver:	n/a	n/a
12	TAF1	chr6:30028220-30029901	K562	blood:	n/a	n/a
13	MXI1	chr6:30028113-30030563	SK-N-SH	brain:	n/a	n/a
14	SIN3A	chr6:30028658-30029833	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:30028124-30030211	K562	blood:	n/a	n/a
16	POLR2A	chr6:30028445-30029730	GM18951	blood:	n/a	n/a
17	HEY1	chr6:30028407-30029843	HepG2	liver:	n/a	n/a
18	POLR2A	chr6:30028222-30029922	K562	blood:	n/a	n/a
19	MYBL2	chr6:30028375-30029783	HepG2	liver:	n/a	n/a
20	POLR2A	chr6:30028425-30029745	GM19193	blood:	n/a	n/a
21	GTF2F1	chr6:30029611-30030036	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr6:30028461-30029667	MCF-7	breast:	n/a	n/a
23	POLR2A	chr6:30028284-30030074	PFSK-1	brain:	n/a	n/a
24	MYC	chr6:30028308-30029879	NB4	blood:	n/a	n/a
25	POLR2A	chr6:30028259-30029880	HL-60	blood:	n/a	n/a
26	POLR2A	chr6:30028415-30029926	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr6:30028157-30030019	GM12892	blood:	n/a	n/a
28	BCLAF1	chr6:30028573-30029862	GM12878	blood:	n/a	n/a
29	POLR2A	chr6:30028365-30029714	K562	blood:	n/a	n/a
30	YY1	chr6:30028716-30029897	K562	blood:	n/a	n/a
31	POLR2A	chr6:30028449-30029809	GM18505	blood:	n/a	n/a
32	POLR2A	chr6:30028643-30029728	GM12891	blood:	n/a	n/a
33	MTA3	chr6:30028085-30030162	GM12878	blood:	n/a	n/a
34	ELF1	chr6:30028858-30029689	GM12878	blood:	n/a	n/a
35	MXI1	chr6:30028409-30029748	HepG2	liver:	n/a	n/a
36	CHD2	chr6:30028815-30029724	Hela-S3	cervix:	n/a	n/a
37	TBP	chr6:30028213-30029765	K562	blood:	n/a	n/a
38	CREB1	chr6:30028622-30029723	K562	blood:	n/a	n/a
39	POLR2A	chr6:30028178-30029884	HL-60	blood:	n/a	n/a
40	POLR2A	chr6:30028227-30029811	GM12891	blood:	n/a	n/a
41	MYBL2	chr6:30028273-30029818	HepG2	liver:	n/a	n/a
42	POLR2A	chr6:30028392-30029878	MCF-7	breast:	n/a	n/a
43	GTF2F1	chr6:30029599-30029660	K562	blood:	n/a	n/a
44	ZNF263	chr6:30028477-30030008	HEK293-T-REx	kidney:	n/a	n/a
45	POLR2A	chr6:30028484-30029723	GM15510	blood:	n/a	n/a
46	CHD2	chr6:30028804-30029784	K562	blood:	n/a	n/a
47	MYC	chr6:30028298-30029794	K562	blood:	n/a	n/a
48	POLR2A	chr6:30028361-30029947	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr6:30028700-30029885	GM12878	blood:	n/a	n/a
50	TAF1	chr6:30029484-30029807	PFSK-1	brain:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30028084..30030840-chr6:30103303..30105686,3	MCF-7	breast:
2	chr6:30002740..30005205-chr6:30029200..30030838,2	MCF-7	breast:
3	chr6:30028230..30030474-chr6:30075345..30077234,2	MCF-7	breast:
4	chr6:30027015..30030813-chr6:30040823..30045193,4	K562	blood:
5	chr17:59475970..59478357-chr6:30028344..30030119,2	MCF-7	breast:
6	chr6:30028283..30029937-chr6:30312414..30314218,2	K562	blood:
7	chr17:7387553..7388054-chr6:30029263..30029975,2	Hela-S3	cervix:
8	chr6:30002424..30006428-chr6:30027567..30030890,5	MCF-7	breast:
9	chr15:90931536..90932447-chr6:30029025..30029813,2	Hela-S3	cervix:
10	chr6:30028283..30030226-chr6:30312404..30313914,2	K562	blood:
11	chr4:144264296..144264969-chr6:30028972..30029813,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
PPP1R11	TF binding region
ZNRD1-AS1	TF binding region
ENSG00000265623	Chromatin interaction
ENSG00000140575	Chromatin interaction
ENSG00000241370	Chromatin interaction
ENSG00000204616	Chromatin interaction
ENSG00000204618	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000204623	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000204614	Chromatin interaction
ENSG00000174282	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000181222	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1150736	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1150742	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150743	0.90[ASN][1000 genomes]
rs1245371	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1245503	0.88[ASN][1000 genomes]
rs1960063	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2246555	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2256922	0.80[EUR][1000 genomes]
rs2523971	0.87[EUR][1000 genomes]
rs2530388	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2571376	0.81[EUR][1000 genomes]
rs259919	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs259921	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs259923	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs259929	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs259931	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs259933	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs259938	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs259939	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs259940	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs259943	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2735064	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2735066	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2735067	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2735078	0.81[EUR][1000 genomes]
rs356954	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs356961	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs356966	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs356967	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs356968	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs356969	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs401618	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs426483	0.80[EUR][1000 genomes]
rs9260910	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[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	nsv1031115	chr6:29934199-30058223	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv538172	chr6:29934199-30058223	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv432866	chr6:30026321-30080921	Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1150741	ZNRD1	Cis_1M	lymphoblastoid	RTeQTL
rs1150741	ZFP57	Cis_1M	lymphoblastoid	RTeQTL
rs1150741	LOC347981	cis	multi-tissue	Pritchard
rs1150741	C6orf12	Cis_1M	lymphoblastoid	RTeQTL
rs1150741	Hs.519979	cis	multi-tissue	Pritchard
rs1150741	TUBB	cis	lesional skin	skin_eQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30027600-30030200	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr6:30027600-30031000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:30027800-30029800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:30027800-30029800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr6:30027800-30029800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:30027800-30029800	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr6:30027800-30030000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:30027800-30030000	Active TSS	Aorta	Aorta
9	chr6:30027800-30030200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr6:30027800-30030200	Active TSS	Esophagus	oesophagus
11	chr6:30028000-30029800	Active TSS	H1 Cell Line	embryonic stem cell
12	chr6:30028000-30029800	Active TSS	Fetal Kidney	kidney
13	chr6:30028000-30029800	Active TSS	Fetal Muscle Trunk	muscle
14	chr6:30028000-30029800	Active TSS	Right Ventricle	heart
15	chr6:30028000-30030000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:30028000-30030000	Active TSS	Ovary	ovary
17	chr6:30028000-30030000	Active TSS	A549	lung
18	chr6:30028000-30030000	Bivalent/Poised TSS	HepG2	liver
19	chr6:30028000-30030200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr6:30028000-30030200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:30028000-30030200	Active TSS	Psoas Muscle	Psoas
22	chr6:30028200-30029800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:30028200-30029800	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr6:30028200-30029800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:30028200-30029800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:30028200-30029800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:30028200-30029800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:30028200-30029800	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr6:30028200-30029800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:30028200-30029800	Active TSS	Muscle Satellite Cultured Cells	--
31	chr6:30028200-30029800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:30028200-30029800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:30028200-30029800	Active TSS	Left Ventricle	heart
34	chr6:30028200-30029800	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr6:30028200-30029800	Active TSS	HMEC	breast
36	chr6:30028200-30029800	Active TSS	NHDF-Ad	bronchial
37	chr6:30028200-30029800	Active TSS	NHEK	skin
38	chr6:30028200-30030000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr6:30028200-30030000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr6:30028200-30030000	Active TSS	Fetal Intestine Small	intestine
41	chr6:30028200-30030000	Active TSS	Gastric	stomach
42	chr6:30028200-30030000	Active TSS	GM12878-XiMat	blood
43	chr6:30028200-30030000	Active TSS	K562	blood
44	chr6:30028200-30030200	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr6:30028200-30030200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr6:30028200-30030400	Active TSS	Fetal Intestine Large	intestine
47	chr6:30028200-30030400	Active TSS	NHLF	lung
48	chr6:30028400-30029800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:30028400-30029800	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr6:30028400-30029800	Active TSS	Brain Substantia Nigra	brain

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