Variant report

Variant	rs3813347
Chromosome Location	chr6:133119778-133119779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr6:133119280-133120487	HepG2	liver:	n/a	chr6:133119843-133119858
2	HDAC2	chr6:133119347-133119869	HepG2	liver:	n/a	chr6:133119392-133119406
3	POLR2A	chr6:133119468-133120015	K562	blood:	n/a	n/a
4	CEBPD	chr6:133119644-133120614	K562	blood:	n/a	n/a
5	ARID3A	chr6:133119218-133120465	K562	blood:	n/a	n/a
6	IRF1	chr6:133118742-133120554	K562	blood:	n/a	chr6:133119211-133119228 chr6:133119208-133119222 chr6:133119204-133119224 chr6:133120491-133120503 chr6:133119795-133119809 chr6:133119212-133119222 chr6:133119212-133119226 chr6:133120492-133120502
7	HMGN3	chr6:133119401-133119943	K562	blood:	n/a	n/a
8	POLR2A	chr6:133119543-133119897	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr6:133119318-133120047	K562	blood:	n/a	n/a
10	ELF1	chr6:133119361-133119801	K562	blood:	n/a	n/a
11	BHLHE40	chr6:133119439-133120534	K562	blood:	n/a	chr6:133119739-133119755 chr6:133119681-133119697 chr6:133119678-133119694
12	MYC	chr6:133119359-133120562	K562	blood:	n/a	chr6:133119635-133119643 chr6:133119848-133119858 chr6:133119845-133119855 chr6:133119790-133119800
13	CBX3	chr6:133119589-133120612	K562	blood:	n/a	n/a
14	ZEB1	chr6:133119525-133119801	GM12878	blood:	n/a	n/a
15	YY1	chr6:133119642-133119893	HCT-116	colon:	n/a	chr6:133119847-133119856 chr6:133119802-133119813 chr6:133119796-133119805
16	ETS1	chr6:133119452-133119910	K562	blood:	n/a	chr6:133119502-133119512 chr6:133119615-133119628 chr6:133119844-133119855 chr6:133119847-133119858 chr6:133119794-133119805 chr6:133119842-133119853
17	USF2	chr6:133119777-133119790	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr6:133119211-133120617	PBDE	blood:	n/a	n/a
19	POLR2A	chr6:133119459-133119802	HepG2	liver:	n/a	n/a
20	HEY1	chr6:133119408-133119879	K562	blood:	n/a	chr6:133119843-133119858
21	YY1	chr6:133119464-133119816	GM12891	blood:	n/a	chr6:133119802-133119813 chr6:133119796-133119805
22	POLR2A	chr6:133119268-133120400	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr6:133119302-133119811	Hela-S3	cervix:	n/a	n/a
24	TAF1	chr6:133119339-133119925	K562	blood:	n/a	n/a
25	POLR2A	chr6:133119402-133119891	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr6:133119350-133119861	Hela-S3	cervix:	n/a	n/a
27	MYC	chr6:133119240-133120592	K562	blood:	n/a	chr6:133119635-133119643 chr6:133119848-133119858 chr6:133119845-133119855 chr6:133119790-133119800
28	TAF1	chr6:133119427-133119804	HepG2	liver:	n/a	n/a
29	CEBPD	chr6:133119377-133120580	K562	blood:	n/a	n/a
30	ZNF384	chr6:133119697-133120371	GM12878	blood:	n/a	n/a
31	E2F4	chr6:133119772-133120327	MCF10A-Er-Src	breast:	n/a	chr6:133119796-133119805
32	POLR2A	chr6:133119469-133119869	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr6:133119243-133120002	U87	brain:	n/a	n/a
34	ZNF384	chr6:133119138-133120479	K562	blood:	n/a	n/a
35	RCOR1	chr6:133118996-133120608	K562	blood:	n/a	n/a
36	PML	chr6:133119497-133120599	K562	blood:	n/a	n/a
37	POLR2A	chr6:133119212-133119817	GM12878	blood:	n/a	n/a
38	EP300	chr6:133119225-133120580	K562	blood:	n/a	n/a
39	NFIC	chr6:133119584-133120460	GM12878	blood:	n/a	n/a
40	ZC3H11A	chr6:133119220-133120418	K562	blood:	n/a	n/a
41	CEBPB	chr6:133119314-133119789	Hela-S3	cervix:	n/a	n/a
42	HCFC1	chr6:133119106-133120477	K562	blood:	n/a	n/a
43	MAFK	chr6:133119686-133120519	K562	blood:	n/a	n/a
44	RFX5	chr6:133119354-133119814	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr6:133119740-133119890	HCM	heart:	n/a	n/a
46	YY1	chr6:133119296-133119875	HepG2	liver:	n/a	chr6:133119847-133119856 chr6:133119802-133119813 chr6:133119796-133119805
47	TBL1XR1	chr6:133118693-133120507	K562	blood:	n/a	n/a
48	ELF1	chr6:133119345-133119909	GM12878	blood:	n/a	n/a
49	SIN3AK20	chr6:133119516-133119803	H1-hESC	embryonic stem cell:	n/a	n/a
50	TBP	chr6:133119434-133120408	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:133119734-133119784	BE2_C	brain:	n/a
2	chr6:133119739-133119789	AoSMC	blood vessel:	n/a
3	chr6:133119734-133119784	K562	blood:	n/a
4	chr6:133119734-133119784	MCF10A-Er-Src	breast:	n/a
5	chr6:133119739-133119789	HEEpiC	esophagus:	n/a
6	chr6:133119734-133119784	BJ	skin:	n/a
7	chr6:133119739-133119789	HCT-116	colon:	n/a
8	chr6:133119734-133119784	AG09319	gingival:	n/a
9	chr6:133119739-133119789	HL-60	blood:	n/a
10	chr6:133119739-133119789	MCF-7	breast:	n/a
11	chr6:133119734-133119784	Hela-S3	cervix:	n/a
12	chr6:133119734-133119784	A549	lung:	n/a
13	chr6:133119734-133119784	HEK293	kidney:	embryo
14	chr6:133119734-133119784	NHBE	bronchial:	n/a
15	chr6:133119739-133119789	NB4	blood:	n/a
16	chr6:133119734-133119784	GM12892	blood:	n/a
17	chr6:133119739-133119789	HAEpiC	amniotic membrane:	n/a
18	chr6:133119734-133119784	HCPEpiC	choroid plexus:	n/a
19	chr6:133119734-133119784	NB4	blood:	n/a
20	chr6:133119739-133119789	GM12891	blood:	n/a
21	chr6:133119739-133119789	LNCaP	prostate:	n/a
22	chr6:133119739-133119789	AG10803	skin:	n/a
23	chr6:133119739-133119789	U87	brain:	n/a
24	chr6:133119734-133119784	SK-N-SH	brain:	n/a
25	chr6:133119739-133119789	Jurkat	blood:	n/a
26	chr6:133119739-133119789	Hepatocyte	liver:	n/a
27	chr6:133119734-133119784	SK-N-SH_RA	brain:	n/a
28	chr6:133119739-133119789	HMEC	breast:	n/a
29	chr6:133119739-133119789	HCM	heart:	n/a
30	chr6:133119734-133119784	HEEpiC	esophagus:	n/a
31	chr6:133119739-133119789	NHDF-neo	bronchial:	n/a
32	chr6:133119734-133119784	HAEpiC	amniotic membrane:	n/a
33	chr6:133119739-133119789	SK-N-MC	brain:	n/a
34	chr6:133119739-133119789	HPAEpiC	pulmonary alveolar:	n/a
35	chr6:133119734-133119784	PrEC	prostate:	n/a
36	chr6:133119734-133119784	AG09309	skin:	n/a
37	chr6:133119739-133119789	Caco-2	colon:	n/a
38	chr6:133119739-133119789	PANC-1	pancreas:	n/a
39	chr6:133119739-133119789	GM06990	blood:	n/a
40	chr6:133119739-133119789	NHBE	bronchial:	n/a
41	chr6:133119734-133119784	HPAEpiC	pulmonary alveolar:	n/a
42	chr6:133119734-133119784	CMK	blood:	n/a
43	chr6:133119739-133119789	GM12878	blood:	n/a
44	chr6:133119739-133119789	MCF10A-Er-Src	breast:	n/a
45	chr6:133119734-133119784	HCF	heart:	n/a
46	chr6:133119734-133119784	ovcar-3	ovarian:	n/a
47	chr6:133119734-133119784	H1-hESC	embryonic stem cell:	embryo
48	chr6:133119739-133119789	H1-hESC	embryonic stem cell:	embryo
49	chr6:133119734-133119784	HRCEpiC	kidney:	n/a
50	chr6:133119739-133119789	NH-A	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:133084618..133086907-chr6:133118822..133121566,2	K562	blood:
2	chr3:52312335..52312919-chr6:133119372..133120190,2	HCT-116	colon:
3	chr6:133117688..133126502-chr6:133133829..133139054,19	MCF-7	breast:
4	chr6:133118544..133124606-chr6:133132137..133138834,13	MCF-7	breast:
5	chr6:133119275..133120154-chr9:140135256..140136012,2	HCT-116	colon:
6	chr6:132832611..132834291-chr6:133118787..133121672,2	K562	blood:
7	chr1:149857709..149858295-chr6:133119261..133119964,2	Hela-S3	cervix:

Variant related genes	Relation type
SLC18B1	TF binding region
SLC18B1	CpG island
ENSG00000221500	Chromatin interaction
ENSG00000271488	Chromatin interaction
ENSG00000200534	Chromatin interaction
ENSG00000112306	Chromatin interaction
ENSG00000206754	Chromatin interaction
ENSG00000188229	Chromatin interaction
ENSG00000164091	Chromatin interaction
ENSG00000079950	Chromatin interaction
ENSG00000184678	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10457591	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10457593	1.00[JPT][hapmap]
rs10457596	0.88[ASN][1000 genomes]
rs10484628	1.00[JPT][hapmap]
rs10484629	1.00[CHB][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1128998	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11962883	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11964512	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12190684	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12193474	1.00[JPT][hapmap]
rs12194625	1.00[JPT][hapmap]
rs12194802	1.00[JPT][hapmap]
rs12197430	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12198849	0.88[ASN][1000 genomes]
rs12199381	1.00[JPT][hapmap]
rs12203977	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12204027	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12204693	1.00[JPT][hapmap]
rs12204740	1.00[JPT][hapmap]
rs12204863	1.00[JPT][hapmap]
rs12207011	1.00[JPT][hapmap]
rs12209144	1.00[JPT][hapmap]
rs12211425	1.00[JPT][hapmap]
rs12211701	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212934	1.00[JPT][hapmap]
rs12215088	1.00[JPT][hapmap]
rs1467403	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1467404	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3778173	1.00[JPT][hapmap]
rs58832890	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61421874	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62424539	0.88[ASN][1000 genomes]
rs6569847	1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6569848	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6910639	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6912936	1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6915168	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6934161	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73554431	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7738071	1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7738400	1.00[CHB][hapmap]
rs7758703	1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7761365	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7765224	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7769051	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7770081	1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9321367	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs9321371	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9375919	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9389032	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9389033	1.00[JPT][hapmap]
rs9399041	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9402452	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9402453	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9402455	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9493435	1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9493436	1.00[CHB][hapmap]
rs9493437	1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9493438	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9493443	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9493444	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9493445	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9493446	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9493454	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9766095	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv886676	chr6:133111706-133168582	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	esv2179124	chr6:133119776-133119778	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	esv2502023	chr6:133119778-133119779	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3813347	C6orf192	cis	multi-tissue	Pritchard
rs3813347	C6orf192	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133117200-133120600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:133118200-133120200	Active TSS	Fetal Lung	lung
3	chr6:133118200-133120400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr6:133118200-133120400	Active TSS	Brain Cingulate Gyrus	brain
5	chr6:133118200-133120400	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr6:133118200-133120600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:133118200-133120600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:133118200-133120600	Active TSS	Brain Anterior Caudate	brain
9	chr6:133118400-133120200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:133118400-133120400	Active TSS	Placenta	Placenta
11	chr6:133118400-133120400	Active TSS	K562	blood
12	chr6:133118600-133120400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:133118600-133120400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:133118600-133120400	Active TSS	Hela-S3	cervix
15	chr6:133118800-133120000	Active TSS	H1 Cell Line	embryonic stem cell
16	chr6:133118800-133120200	Active TSS	Primary T cells fromperipheralblood	blood
17	chr6:133118800-133120200	Active TSS	Brain Angular Gyrus	brain
18	chr6:133118800-133120200	Active TSS	Fetal Heart	heart
19	chr6:133118800-133120200	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr6:133118800-133120200	Active TSS	Stomach Smooth Muscle	stomach
21	chr6:133118800-133120200	Active TSS	GM12878-XiMat	blood
22	chr6:133118800-133120200	Active TSS	HUVEC	blood vessel
23	chr6:133118800-133120400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:133118800-133120400	Active TSS	Colon Smooth Muscle	Colon
25	chr6:133118800-133120400	Active TSS	Fetal Intestine Large	intestine
26	chr6:133118800-133120400	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr6:133118800-133120400	Active TSS	Right Atrium	heart
28	chr6:133118800-133120400	Active TSS	A549	lung
29	chr6:133118800-133120400	Active TSS	HMEC	breast
30	chr6:133118800-133120600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr6:133118800-133120600	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr6:133118800-133120600	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr6:133118800-133120600	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr6:133118800-133120600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:133118800-133120600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:133118800-133120600	Active TSS	Fetal Kidney	kidney
37	chr6:133118800-133120600	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr6:133118800-133120600	Active TSS	Fetal Stomach	stomach
39	chr6:133118800-133120600	Active TSS	Osteobl	bone
40	chr6:133119000-133120000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:133119000-133120000	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr6:133119000-133120200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:133119000-133120200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:133119000-133120200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:133119000-133120200	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr6:133119000-133120200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:133119000-133120200	Active TSS	Muscle Satellite Cultured Cells	--
48	chr6:133119000-133120200	Active TSS	Brain Germinal Matrix	brain
49	chr6:133119000-133120200	Active TSS	Fetal Muscle Leg	muscle
50	chr6:133119000-133120200	Active TSS	Rectal Smooth Muscle	rectum

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