Variant report

Variant	rs6668968
Chromosome Location	chr1:154293675-154293676
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr1:154293205-154293929	PBDE	blood:	n/a	chr1:154293796-154293817 chr1:154293800-154293810 chr1:154293539-154293546 chr1:154293803-154293812 chr1:154293802-154293812 chr1:154293539-154293548 chr1:154293803-154293810 chr1:154293538-154293548
2	ZNF384	chr1:154293179-154293737	K562	blood:	n/a	n/a
3	HCFC1	chr1:154293386-154293734	K562	blood:	n/a	n/a
4	STAT5A	chr1:154293289-154293686	K562	blood:	n/a	n/a
5	CTCF	chr1:154293529-154293676	K562	blood:	n/a	n/a
6	IRF1	chr1:154293362-154293845	K562	blood:	n/a	chr1:154293508-154293517
7	CTCF	chr1:154293540-154293690	HEEpiC	esophagus:	n/a	n/a
8	POLR2A	chr1:154293263-154293824	K562	blood:	n/a	n/a
9	MAX	chr1:154293280-154293716	K562	blood:	n/a	n/a
10	GATA1	chr1:154293342-154293752	K562	blood:	n/a	chr1:154293539-154293546 chr1:154293539-154293548 chr1:154293538-154293548
11	YY1	chr1:154293338-154293804	K562	blood:	n/a	n/a
12	REST	chr1:154293245-154293718	K562	blood:	n/a	n/a
13	BHLHE40	chr1:154293222-154293758	K562	blood:	n/a	n/a
14	MAFK	chr1:154293325-154293718	K562	blood:	n/a	n/a
15	MAX	chr1:154293303-154293678	K562	blood:	n/a	n/a
16	POLR2A	chr1:154293247-154293900	K562	blood:	n/a	n/a
17	ELF1	chr1:154293250-154293747	K562	blood:	n/a	n/a
18	GATA2	chr1:154293296-154293830	K562	blood:	n/a	chr1:154293796-154293817 chr1:154293800-154293810 chr1:154293539-154293546 chr1:154293803-154293812 chr1:154293802-154293812 chr1:154293539-154293548 chr1:154293803-154293810 chr1:154293538-154293548
19	CTCF	chr1:154293540-154293690	Caco-2	colon:	n/a	n/a
20	SIN3AK20	chr1:154293306-154293731	K562	blood:	n/a	n/a
21	MAX	chr1:154293199-154293840	K562	blood:	n/a	n/a
22	TBL1XR1	chr1:154293297-154293979	K562	blood:	n/a	n/a
23	ZBTB7A	chr1:154293483-154293708	K562	blood:	n/a	n/a
24	POLR2A	chr1:154293344-154293775	K562	blood:	n/a	n/a
25	GATA1	chr1:154293190-154294125	K562	blood:	n/a	chr1:154293796-154293817 chr1:154293800-154293810 chr1:154293539-154293546 chr1:154293803-154293812 chr1:154293802-154293812 chr1:154293539-154293548 chr1:154293803-154293810 chr1:154293538-154293548
26	TAF1	chr1:154293327-154293794	K562	blood:	n/a	n/a
27	CEBPB	chr1:154293259-154293745	K562	blood:	n/a	n/a
28	MXI1	chr1:154293351-154293682	K562	blood:	n/a	n/a
29	USF1	chr1:154293197-154293775	K562	blood:	n/a	n/a
30	CEBPD	chr1:154293235-154293819	K562	blood:	n/a	n/a
31	MYC	chr1:154293293-154293712	K562	blood:	n/a	n/a
32	HDAC2	chr1:154293324-154293735	K562	blood:	n/a	n/a
33	JUN	chr1:154293089-154293925	K562	blood:	n/a	n/a
34	POLR2A	chr1:154293249-154293859	K562	blood:	n/a	n/a
35	TEAD4	chr1:154293176-154293753	K562	blood:	n/a	n/a
36	CBX3	chr1:154293099-154293868	K562	blood:	n/a	n/a
37	EP300	chr1:154293266-154293875	K562	blood:	n/a	chr1:154293329-154293338 chr1:154293806-154293820
38	NR2F2	chr1:154293241-154293719	K562	blood:	n/a	n/a
39	KAP1	chr1:154293312-154293805	HEK293	kidney:	n/a	n/a
40	TAF1	chr1:154293396-154293738	K562	blood:	n/a	n/a
41	YY1	chr1:154293381-154293726	K562	blood:	n/a	n/a
42	TBP	chr1:154293302-154293770	K562	blood:	n/a	n/a
43	TRIM28	chr1:154293227-154293816	K562	blood:	n/a	n/a
44	MYC	chr1:154293277-154293751	K562	blood:	n/a	n/a
45	MYC	chr1:154293339-154293745	K562	blood:	n/a	n/a
46	STAT5A	chr1:154293227-154293789	K562	blood:	n/a	n/a
47	POLR2A	chr1:154293307-154293808	K562	blood:	n/a	n/a
48	SIRT6	chr1:154293284-154293794	K562	blood:	n/a	n/a
49	RCOR1	chr1:154293262-154293809	K562	blood:	n/a	n/a
50	MXI1	chr1:154293115-154293973	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:154293651-154293701	SK-N-SH	brain:	n/a
2	chr1:154293651-154293701	HPAEpiC	pulmonary alveolar:	n/a
3	chr1:154293651-154293701	HRE	kidney:	n/a
4	chr1:154293651-154293701	Jurkat	blood:	n/a
5	chr1:154293651-154293701	GM19239	blood:	n/a
6	chr1:154293651-154293701	AG09319	gingival:	n/a
7	chr1:154293651-154293701	PrEC	prostate:	n/a
8	chr1:154293651-154293701	AG04450	lung:	fetal
9	chr1:154293651-154293701	GM06990	blood:	n/a
10	chr1:154293651-154293701	PANC-1	pancreas:	n/a
11	chr1:154293651-154293701	MCF10A-Er-Src	breast:	n/a
12	chr1:154293651-154293701	K562	blood:	n/a
13	chr1:154293651-154293701	ECC-1	luminal epithelium:	n/a
14	chr1:154293651-154293701	NB4	blood:	n/a
15	chr1:154293651-154293701	HEK293	kidney:	embryo
16	chr1:154293651-154293701	HepG2	liver:	n/a
17	chr1:154293651-154293701	NT2-D1	testis:	n/a
18	chr1:154293651-154293701	HCF	heart:	n/a
19	chr1:154293651-154293701	HAEpiC	amniotic membrane:	n/a
20	chr1:154293651-154293701	NH-A	brain:	n/a
21	chr1:154293651-154293701	U87	brain:	n/a
22	chr1:154293651-154293701	NHBE	bronchial:	n/a
23	chr1:154293651-154293701	SK-N-MC	brain:	n/a
24	chr1:154293651-154293701	CMK	blood:	n/a
25	chr1:154293651-154293701	IMR90	lung:	fetal
26	chr1:154293651-154293701	LNCaP	prostate:	n/a
27	chr1:154293651-154293701	GM12878	blood:	n/a
28	chr1:154293651-154293701	HCM	heart:	n/a
29	chr1:154293651-154293701	Hepatocyte	liver:	n/a
30	chr1:154293651-154293701	HEEpiC	esophagus:	n/a
31	chr1:154293651-154293701	A549	lung:	n/a
32	chr1:154293651-154293701	HCPEpiC	choroid plexus:	n/a
33	chr1:154293651-154293701	ovcar-3	ovarian:	n/a
34	chr1:154293651-154293701	HUVEC	blood vessel:	n/a
35	chr1:154293651-154293701	HL-60	blood:	n/a
36	chr1:154293651-154293701	SKMC	muscle:	n/a
37	chr1:154293651-154293701	AoSMC	blood vessel:	n/a
38	chr1:154293651-154293701	SK-N-SH_RA	brain:	n/a
39	chr1:154293651-154293701	GM12892	blood:	n/a
40	chr1:154293651-154293701	ProgFib	skin:	n/a
41	chr1:154293651-154293701	AG09309	skin:	n/a
42	chr1:154293651-154293701	AG10803	skin:	n/a
43	chr1:154293651-154293701	HMEC	breast:	n/a
44	chr1:154293651-154293701	SAEC	small airway:	n/a
45	chr1:154293651-154293701	BJ	skin:	n/a
46	chr1:154293651-154293701	GM12891	blood:	n/a
47	chr1:154293651-154293701	HIPEpiC	eye:	n/a
48	chr1:154293651-154293701	PFSK-1	brain:	n/a
49	chr1:154293651-154293701	Hela-S3	cervix:	n/a
50	chr1:154293651-154293701	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:154293042..154295327-chr1:154297413..154299149,2	MCF-7	breast:
2	chr1:154243817..154246754-chr1:154291993..154294660,2	K562	blood:
3	chr1:154192079..154194850-chr1:154292071..154294843,2	K562	blood:

No data

Variant related genes	Relation type
ATP8B2	TF binding region
ATP8B2	CpG island
ENSG00000143569	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000143515	Chromatin interaction
ENSG00000143575	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12077870	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12727865	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12748146	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35950207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3890153	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6672010	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6685323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6702754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS 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 miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv946406	chr1:154284237-154294738	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	esv3414887	chr1:154285006-154293690	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	esv3324060	chr1:154285512-154294340	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154290400-154297000	Weak transcription	Thymus	Thymus
2	chr1:154293000-154294000	Enhancers	Fetal Heart	heart
3	chr1:154293000-154294000	Enhancers	Stomach Mucosa	stomach
4	chr1:154293000-154294800	Enhancers	Fetal Intestine Large	intestine
5	chr1:154293200-154293800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:154293200-154293800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr1:154293200-154293800	Enhancers	Right Ventricle	heart
8	chr1:154293200-154293800	Flanking Active TSS	K562	blood
9	chr1:154293200-154294000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:154293200-154294800	Enhancers	Duodenum Mucosa	Duodenum
11	chr1:154293400-154293800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:154293400-154293800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:154293400-154293800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:154293400-154293800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:154293400-154293800	Enhancers	Fetal Thymus	thymus
16	chr1:154293400-154293800	Enhancers	Left Ventricle	heart
17	chr1:154293400-154293800	Enhancers	Pancreas	Pancrea
18	chr1:154293400-154293800	Enhancers	Right Atrium	heart
19	chr1:154293400-154293800	Enhancers	Spleen	Spleen
20	chr1:154293400-154293800	Flanking Active TSS	NHEK	skin
21	chr1:154293600-154293800	Enhancers	Esophagus	oesophagus
22	chr1:154293600-154293800	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr1:154293600-154293800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr1:154293600-154293800	Enhancers	HepG2	liver
25	chr1:154293600-154293800	Bivalent Enhancer	HUVEC	blood vessel
26	chr1:154293600-154294000	Active TSS	Fetal Intestine Small	intestine
27	chr1:154293600-154294400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:154293600-154297000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:154293600-154297200	Weak transcription	Gastric	stomach

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