Variant report

Variant	rs3812148
Chromosome Location	chr6:80816145-80816146
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:368)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:80815937-80816590	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:80815971-80816628	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:80815948-80816641	GM10847	blood:	n/a	n/a
4	POLR2A	chr6:80815865-80816660	PANC-1	pancreas:	n/a	n/a
5	GTF2B	chr6:80816093-80816536	K562	blood:	n/a	n/a
6	POLR2A	chr6:80815958-80816651	K562	blood:	n/a	n/a
7	POLR2A	chr6:80815883-80816833	GM12892	blood:	n/a	n/a
8	ELF1	chr6:80816081-80816511	K562	blood:	n/a	n/a
9	ELK1	chr6:80815987-80816636	Hela-S3	cervix:	n/a	n/a
10	TBP	chr6:80815771-80816528	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:80815863-80816596	HepG2	liver:	n/a	n/a
12	POLR2A	chr6:80815857-80816546	SK-N-MC	brain:	n/a	n/a
13	ZKSCAN1	chr6:80815992-80816545	Hela-S3	cervix:	n/a	n/a
14	HEY1	chr6:80815990-80816600	HepG2	liver:	n/a	chr6:80816348-80816363
15	CTCF	chr6:80816013-80816541	GM12878	blood:	n/a	n/a
16	POLR2A	chr6:80815867-80816845	HL-60	blood:	n/a	n/a
17	POLR2A	chr6:80815899-80816691	GM18526	blood:	n/a	n/a
18	FOXM1	chr6:80816064-80816677	GM12878	blood:	n/a	n/a
19	MAX	chr6:80816033-80816922	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYBL2	chr6:80815901-80816509	HepG2	liver:	n/a	n/a
21	TAF1	chr6:80816004-80816569	GM12891	blood:	n/a	n/a
22	POLR2A	chr6:80816016-80816673	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr6:80815915-80816960	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr6:80815948-80816569	GM12891	blood:	n/a	n/a
25	MTA3	chr6:80815827-80816670	GM12878	blood:	n/a	n/a
26	TAF7	chr6:80816113-80816773	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr6:80815814-80816893	GM18951	blood:	n/a	n/a
28	EP300	chr6:80815752-80816438	K562	blood:	n/a	n/a
29	IRF1	chr6:80815701-80816649	K562	blood:	n/a	chr6:80816260-80816274 chr6:80815834-80815851
30	POLR2A	chr6:80815723-80816755	GM15510	blood:	n/a	n/a
31	CTCF	chr6:80816080-80816230	HCPEpiC	choroid plexus:	n/a	n/a
32	ELF1	chr6:80815926-80816396	K562	blood:	n/a	n/a
33	POLR2A	chr6:80816045-80816802	MCF-7	breast:	n/a	n/a
34	POLR2A	chr6:80815701-80816846	PFSK-1	brain:	n/a	n/a
35	CTCF	chr6:80816040-80816190	AG09309	skin:	n/a	n/a
36	WRNIP1	chr6:80815949-80816278	GM12878	blood:	n/a	n/a
37	CTCF	chr6:80816000-80816150	HBMEC	blood vessel:	n/a	n/a
38	CBX3	chr6:80815905-80816513	K562	blood:	n/a	n/a
39	FOS	chr6:80815976-80816379	MCF10A-Er-Src	breast:	n/a	chr6:80816285-80816294
40	POLR2A	chr6:80815856-80816730	GM12878	blood:	n/a	n/a
41	POLR2A	chr6:80816048-80816798	MCF-7	breast:	n/a	n/a
42	CTCF	chr6:80816000-80816150	GM06990	blood:	n/a	n/a
43	SIN3AK20	chr6:80815875-80817050	MCF-7	breast:	n/a	n/a
44	SIN3A	chr6:80815933-80816971	H1-hESC	embryonic stem cell:	n/a	n/a
45	TAF1	chr6:80815941-80816154	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr6:80815909-80816652	HEK293	kidney:	n/a	n/a
47	POLR2A	chr6:80815827-80816686	HUVEC	blood vessel:	n/a	n/a
48	TBL1XR1	chr6:80816106-80816594	K562	blood:	n/a	n/a
49	YY1	chr6:80815936-80816586	SK-N-SH_RA	brain:	n/a	n/a
50	NFIC	chr6:80815758-80816580	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:80816139-80816189	AG09319	gingival:	n/a
2	chr6:80816139-80816189	HUVEC	blood vessel:	n/a
3	chr6:80816139-80816189	ECC-1	luminal epithelium:	n/a
4	chr6:80816139-80816189	HNPCEpiC	eye:	n/a
5	chr6:80816139-80816189	SAEC	small airway:	n/a
6	chr6:80816139-80816189	GM06990	blood:	n/a
7	chr6:80816139-80816189	AG04450	lung:	fetal
8	chr6:80816139-80816189	SK-N-SH_RA	brain:	n/a
9	chr6:80816139-80816189	NHDF-neo	bronchial:	n/a
10	chr6:80816139-80816189	GM12892	blood:	n/a
11	chr6:80816139-80816189	HCF	heart:	n/a
12	chr6:80816139-80816189	ovcar-3	ovarian:	n/a
13	chr6:80816139-80816189	NHBE	bronchial:	n/a
14	chr6:80816139-80816189	HRE	kidney:	n/a
15	chr6:80816139-80816189	SK-N-MC	brain:	n/a
16	chr6:80816139-80816189	GM19239	blood:	n/a
17	chr6:80816139-80816189	HRPEpiC	eye:	n/a
18	chr6:80816139-80816189	HCT-116	colon:	n/a
19	chr6:80816139-80816189	Hepatocyte	liver:	n/a
20	chr6:80816139-80816189	ProgFib	skin:	n/a
21	chr6:80816139-80816189	HCM	heart:	n/a
22	chr6:80816139-80816189	PANC-1	pancreas:	n/a
23	chr6:80816139-80816189	HL-60	blood:	n/a
24	chr6:80816139-80816189	LNCaP	prostate:	n/a
25	chr6:80816139-80816189	CMK	blood:	n/a
26	chr6:80816139-80816189	NH-A	brain:	n/a
27	chr6:80816139-80816189	U87	brain:	n/a
28	chr6:80816139-80816189	HRCEpiC	kidney:	n/a
29	chr6:80816139-80816189	HCPEpiC	choroid plexus:	n/a
30	chr6:80816139-80816189	GM12878	blood:	n/a
31	chr6:80816139-80816189	NT2-D1	testis:	n/a
32	chr6:80816139-80816189	K562	blood:	n/a
33	chr6:80816139-80816189	H1-hESC	embryonic stem cell:	embryo
34	chr6:80816139-80816189	MCF-7	breast:	n/a
35	chr6:80816139-80816189	IMR90	lung:	fetal
36	chr6:80816139-80816189	Caco-2	colon:	n/a
37	chr6:80816139-80816189	SK-N-SH	brain:	n/a
38	chr6:80816139-80816189	BJ	skin:	n/a
39	chr6:80816139-80816189	RPTEC	kidney:	n/a
40	chr6:80816139-80816189	AG09309	skin:	n/a
41	chr6:80816139-80816189	HPAEpiC	pulmonary alveolar:	n/a
42	chr6:80816139-80816189	A549	lung:	n/a
43	chr6:80816139-80816189	Hela-S3	cervix:	n/a
44	chr6:80816139-80816189	HEEpiC	esophagus:	n/a
45	chr6:80816139-80816189	PFSK-1	brain:	n/a
46	chr6:80816139-80816189	HMEC	breast:	n/a
47	chr6:80816139-80816189	HEK293	kidney:	embryo
48	chr6:80816139-80816189	BE2_C	brain:	n/a
49	chr6:80816139-80816189	AG10803	skin:	n/a
50	chr6:80816139-80816189	AoSMC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr15:40674973..40675561-chr6:80815881..80816507,2	Hela-S3	cervix:
2	chr13:77600897..77601550-chr6:80816034..80816884,2	NB4	blood:
3	chr6:80815077..80817880-chr6:80835991..80839240,3	MCF-7	breast:

No data

Variant related genes	Relation type
BCKDHB	TF binding region
BCKDHB	CpG island
ENSG00000005812	Chromatin interaction
ENSG00000128944	Chromatin interaction
ENSG00000083123	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11961345	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs11961389	0.84[CHB][hapmap];0.93[JPT][hapmap];0.94[YRI][hapmap]
rs11961506	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11961937	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11962441	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11967081	0.84[CHB][hapmap];0.92[JPT][hapmap];0.94[YRI][hapmap]
rs12110563	0.90[ASN][1000 genomes]
rs1324119	0.92[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs3749896	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3805893	0.92[CHB][hapmap];0.93[JPT][hapmap]
rs3805914	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3805915	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3805918	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3805923	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3812123	0.84[CHB][hapmap];0.92[JPT][hapmap];0.94[YRI][hapmap]
rs3812124	0.84[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs3828750	0.84[CHB][hapmap];0.92[JPT][hapmap];0.94[YRI][hapmap]
rs59155686	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs59460144	0.90[ASN][1000 genomes]
rs59516180	0.90[ASN][1000 genomes]
rs66486409	0.86[ASN][1000 genomes]
rs73477974	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73477975	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73477981	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73477985	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73479907	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73479909	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73479918	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73479932	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73479950	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73479953	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73479968	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73479980	0.90[ASN][1000 genomes]
rs73482011	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73482029	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73482038	0.85[AMR][1000 genomes]
rs742834	0.84[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs9343974	0.83[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398521	chr6:80816133-80818281	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80815200-80817400	Active TSS	Fetal Kidney	kidney
2	chr6:80815400-80816800	Active TSS	Rectal Smooth Muscle	rectum
3	chr6:80815400-80817400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:80815600-80816200	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr6:80815600-80816200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr6:80815600-80816600	Active TSS	Primary T cells fromperipheralblood	blood
7	chr6:80815600-80816600	Active TSS	Duodenum Mucosa	Duodenum
8	chr6:80815600-80816600	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr6:80815600-80816600	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr6:80815600-80816600	Active TSS	HepG2	liver
11	chr6:80815600-80816800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr6:80815600-80816800	Active TSS	Fetal Brain Female	brain
13	chr6:80815600-80816800	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr6:80815600-80817000	Active TSS	Brain Cingulate Gyrus	brain
15	chr6:80815600-80817000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr6:80815600-80817000	Active TSS	Right Atrium	heart
17	chr6:80815600-80817000	Active TSS	A549	lung
18	chr6:80815600-80817200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:80815600-80817200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:80815600-80817200	Active TSS	Brain Hippocampus Middle	brain
21	chr6:80815600-80817200	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr6:80815600-80817200	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr6:80815600-80817400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:80815600-80817400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:80815600-80817400	Active TSS	Fetal Intestine Large	intestine
26	chr6:80815600-80817400	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr6:80815600-80817400	Active TSS	K562	blood
28	chr6:80815600-80817800	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr6:80815600-80817800	Active TSS	Stomach Smooth Muscle	stomach
30	chr6:80815600-80819200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:80815800-80816200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr6:80815800-80816200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr6:80815800-80816200	Flanking Active TSS	HUVEC	blood vessel
34	chr6:80815800-80816400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:80815800-80816600	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr6:80815800-80816600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:80815800-80816600	Active TSS	Colonic Mucosa	Colon
38	chr6:80815800-80816600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr6:80815800-80816600	Active TSS	Fetal Muscle Leg	muscle
40	chr6:80815800-80816600	Active TSS	Placenta	Placenta
41	chr6:80815800-80816800	Active TSS	Primary T cells from cord blood	blood
42	chr6:80815800-80816800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:80815800-80816800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:80815800-80816800	Active TSS	Brain Angular Gyrus	brain
45	chr6:80815800-80816800	Active TSS	Fetal Intestine Small	intestine
46	chr6:80815800-80816800	Active TSS	Fetal Muscle Trunk	muscle
47	chr6:80815800-80816800	Active TSS	Fetal Stomach	stomach
48	chr6:80815800-80816800	Active TSS	Fetal Thymus	thymus
49	chr6:80815800-80816800	Active TSS	Stomach Mucosa	stomach
50	chr6:80815800-80816800	Active TSS	Thymus	Thymus

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