Variant report

Variant	rs7746096
Chromosome Location	chr6:30483919-30483920
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:325)
CpG islands
(count:183)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr6:30483809-30484152	H1-hESC	embryonic stem cell:	n/a	n/a
2	ELF1	chr6:30483898-30484534	K562	blood:	n/a	chr6:30484407-30484416 chr6:30484410-30484422
3	FOSL2	chr6:30483743-30484255	HepG2	liver:	n/a	n/a
4	CHD2	chr6:30483896-30484286	K562	blood:	n/a	n/a
5	BHLHE40	chr6:30483825-30484524	K562	blood:	n/a	n/a
6	POLR2A	chr6:30483573-30484673	MCF-7	breast:	n/a	n/a
7	JUND	chr6:30483820-30484116	H1-hESC	embryonic stem cell:	n/a	n/a
8	SPI1	chr6:30483772-30484552	GM12891	blood:	n/a	n/a
9	FOXA1	chr6:30483755-30484338	HepG2	liver:	n/a	n/a
10	PML	chr6:30483709-30484668	K562	blood:	n/a	n/a
11	GABPA	chr6:30483808-30484476	A549	lung:	n/a	n/a
12	CEBPB	chr6:30483781-30484157	A549	lung:	n/a	chr6:30483969-30483982 chr6:30483969-30483982 chr6:30483969-30483980 chr6:30483969-30483982 chr6:30484020-30484028
13	SPI1	chr6:30483804-30484234	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:30483761-30484188	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F4	chr6:30483790-30484635	MCF10A-Er-Src	breast:	n/a	chr6:30484019-30484028
16	PML	chr6:30483790-30484705	K562	blood:	n/a	n/a
17	MAX	chr6:30483875-30484547	K562	blood:	n/a	n/a
18	MYC	chr6:30483807-30484604	K562	blood:	n/a	n/a
19	ZNF143	chr6:30483866-30484515	K562	blood:	n/a	n/a
20	POLR2A	chr6:30483579-30484738	SK-N-MC	brain:	n/a	n/a
21	GABPA	chr6:30483881-30484145	H1-hESC	embryonic stem cell:	n/a	n/a
22	CUX1	chr6:30483839-30484536	K562	blood:	n/a	n/a
23	FOXP2	chr6:30483897-30484145	SK-N-MC	brain:	n/a	n/a
24	E2F6	chr6:30483820-30484029	K562	blood:	n/a	chr6:30484019-30484028
25	NFIC	chr6:30483879-30484645	GM12878	blood:	n/a	n/a
26	CBX3	chr6:30483500-30485224	K562	blood:	n/a	n/a
27	EP300	chr6:30483764-30484235	HepG2	liver:	n/a	chr6:30483970-30483984
28	POLR2A	chr6:30483665-30484691	K562	blood:	n/a	n/a
29	FOXP2	chr6:30483853-30484167	PFSK-1	brain:	n/a	n/a
30	CEBPB	chr6:30483770-30484632	A549	lung:	n/a	chr6:30483969-30483982 chr6:30483969-30483982 chr6:30483969-30483980 chr6:30483969-30483982 chr6:30484020-30484028
31	POLR2A	chr6:30483854-30484632	HCT-116	colon:	n/a	n/a
32	POLR2A	chr6:30483788-30484220	HepG2	liver:	n/a	n/a
33	POLR2A	chr6:30483755-30484105	GM12891	blood:	n/a	n/a
34	CEBPB	chr6:30483775-30484518	H1-hESC	embryonic stem cell:	n/a	chr6:30483969-30483982 chr6:30483969-30483982 chr6:30483969-30483980 chr6:30483969-30483982 chr6:30484020-30484028
35	MAFK	chr6:30483845-30484645	K562	blood:	n/a	n/a
36	POLR2A	chr6:30483823-30484621	PBDE	blood:	n/a	n/a
37	MYC	chr6:30483857-30484438	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPD	chr6:30483694-30484681	K562	blood:	n/a	chr6:30483970-30483981
39	POLR2A	chr6:30483714-30484561	GM18951	blood:	n/a	n/a
40	SPI1	chr6:30483796-30484243	HL-60	blood:	n/a	n/a
41	SP1	chr6:30483737-30484586	A549	lung:	n/a	n/a
42	EGR1	chr6:30483808-30484207	K562	blood:	n/a	n/a
43	POLR2A	chr6:30483745-30484674	MCF10A-Er-Src	breast:	n/a	n/a
44	SIN3AK20	chr6:30483848-30484196	HepG2	liver:	n/a	n/a
45	CHD1	chr6:30483753-30484533	GM12878	blood:	n/a	n/a
46	POLR2A	chr6:30483660-30484657	HUVEC	blood vessel:	n/a	n/a
47	CEBPB	chr6:30483691-30484548	ECC-1	luminal epithelium:	n/a	chr6:30483969-30483982 chr6:30483969-30483982 chr6:30483969-30483980 chr6:30483969-30483982 chr6:30484020-30484028
48	FOXA1	chr6:30483749-30484316	HepG2	liver:	n/a	n/a
49	ELF1	chr6:30483761-30484557	A549	lung:	n/a	chr6:30484407-30484416 chr6:30484410-30484422
50	RUNX3	chr6:30483797-30484658	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30483908-30483958	A549	lung:	n/a
2	chr6:30483886-30483936	NH-A	brain:	n/a
3	chr6:30483882-30483932	NHDF-neo	bronchial:	n/a
4	chr6:30483908-30483958	PFSK-1	brain:	n/a
5	chr6:30483886-30483936	BE2_C	brain:	n/a
6	chr6:30483886-30483936	GM12891	blood:	n/a
7	chr6:30483886-30483936	SK-N-SH	brain:	n/a
8	chr6:30483886-30483936	CMK	blood:	n/a
9	chr6:30483882-30483932	NH-A	brain:	n/a
10	chr6:30483882-30483932	SKMC	muscle:	n/a
11	chr6:30483882-30483932	BE2_C	brain:	n/a
12	chr6:30483908-30483958	Hepatocyte	liver:	n/a
13	chr6:30483882-30483932	GM06990	blood:	n/a
14	chr6:30483886-30483936	HIPEpiC	eye:	n/a
15	chr6:30483886-30483936	HRE	kidney:	n/a
16	chr6:30483882-30483932	ProgFib	skin:	n/a
17	chr6:30483908-30483958	NH-A	brain:	n/a
18	chr6:30483908-30483958	HCM	heart:	n/a
19	chr6:30483908-30483958	GM12892	blood:	n/a
20	chr6:30483886-30483936	NHBE	bronchial:	n/a
21	chr6:30483886-30483936	ProgFib	skin:	n/a
22	chr6:30483886-30483936	HepG2	liver:	n/a
23	chr6:30483882-30483932	PFSK-1	brain:	n/a
24	chr6:30483882-30483932	HRCEpiC	kidney:	n/a
25	chr6:30483886-30483936	HUVEC	blood vessel:	n/a
26	chr6:30483908-30483958	HRPEpiC	eye:	n/a
27	chr6:30483886-30483936	HCT-116	colon:	n/a
28	chr6:30483908-30483958	K562	blood:	n/a
29	chr6:30483882-30483932	HEK293	kidney:	embryo
30	chr6:30483908-30483958	MCF10A-Er-Src	breast:	n/a
31	chr6:30483882-30483932	HAEpiC	amniotic membrane:	n/a
32	chr6:30483908-30483958	ECC-1	luminal epithelium:	n/a
33	chr6:30483882-30483932	HMEC	breast:	n/a
34	chr6:30483886-30483936	HCM	heart:	n/a
35	chr6:30483882-30483932	BJ	skin:	n/a
36	chr6:30483882-30483932	Hela-S3	cervix:	n/a
37	chr6:30483886-30483936	AG09319	gingival:	n/a
38	chr6:30483886-30483936	GM12878	blood:	n/a
39	chr6:30483882-30483932	HRPEpiC	eye:	n/a
40	chr6:30483886-30483936	Hela-S3	cervix:	n/a
41	chr6:30483886-30483936	HNPCEpiC	eye:	n/a
42	chr6:30483886-30483936	SKMC	muscle:	n/a
43	chr6:30483882-30483932	HPAEpiC	pulmonary alveolar:	n/a
44	chr6:30483882-30483932	GM19239	blood:	n/a
45	chr6:30483886-30483936	GM12892	blood:	n/a
46	chr6:30483908-30483958	LNCaP	prostate:	n/a
47	chr6:30483882-30483932	PrEC	prostate:	n/a
48	chr6:30483886-30483936	AoSMC	blood vessel:	n/a
49	chr6:30483882-30483932	AG04449	skin:	fetal
50	chr6:30483908-30483958	AG10803	skin:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30482665..30485731-chr6:30524141..30525971,3	MCF-7	breast:
2	chr6:30482834..30484451-chr6:30614992..30617203,2	MCF-7	breast:
3	chr6:30482719..30486624-chr6:30535507..30541696,8	K562	blood:
4	chr6:30455700..30459615-chr6:30482438..30485842,11	MCF-7	breast:
5	chr6:30483908..30485878-chr6:30522837..30525858,6	K562	blood:
6	chr6:30482934..30485578-chr6:30684677..30686611,2	K562	blood:
7	chr6:30456365..30459515-chr6:30480416..30486332,6	MCF-7	breast:
8	chr6:30455872..30460443-chr6:30482529..30486009,9	K562	blood:
9	chr6:30481563..30487862-chr6:30521673..30526487,12	K562	blood:
10	chr6:30481743..30485761-chr6:30582102..30585444,5	K562	blood:
11	chr6:30482489..30485588-chr6:30582296..30586114,5	K562	blood:
12	chr6:30456467..30458810-chr6:30482542..30485985,4	K562	blood:
13	chr6:30483905..30485578-chr6:30685111..30687168,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235781	TF binding region
ENSG00000235781	CpG island
ENSG00000222894	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000266183	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000204574	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17189120	0.83[AFR][1000 genomes]
rs17195376	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17195411	1.00[AFR][1000 genomes]
rs2394387	0.81[AFR][1000 genomes]
rs2394388	0.90[AFR][1000 genomes]
rs2394389	0.90[AFR][1000 genomes]
rs3815101	1.00[AFR][1000 genomes]
rs4148247	1.00[AFR][1000 genomes]
rs58423891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58569354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60081418	1.00[AFR][1000 genomes]
rs61134417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899769	0.83[AFR][1000 genomes]
rs6917434	0.83[AFR][1000 genomes]
rs6918007	0.87[AFR][1000 genomes]
rs6934466	0.83[AFR][1000 genomes]
rs7742754	0.83[AFR][1000 genomes]
rs7749109	0.83[AFR][1000 genomes]
rs7749807	0.83[AFR][1000 genomes]
rs7749978	0.83[AFR][1000 genomes]
rs7767714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768140	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9283	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9671	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS 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	1012 gene(s)	inside rSNPs	diseases
5	nsv884076	chr6:30434566-30483919	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
6	nsv884077	chr6:30434900-30512163	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
8	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
9	nsv823471	chr6:30483102-30483978	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7746096	PRR3	cis	lymphoblastoid	seeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30476600-30485200	Weak transcription	Small Intestine	intestine
2	chr6:30482400-30485000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr6:30482800-30484400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:30483000-30484200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr6:30483000-30484400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr6:30483000-30484400	Flanking Active TSS	Primary B cells from peripheral blood	blood
7	chr6:30483000-30484400	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr6:30483000-30484600	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr6:30483000-30484800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr6:30483000-30484800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr6:30483000-30484800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr6:30483200-30484000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:30483200-30484000	Active TSS	GM12878-XiMat	blood
14	chr6:30483200-30484200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr6:30483200-30484400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:30483200-30484400	Active TSS	Brain Angular Gyrus	brain
17	chr6:30483200-30484600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:30483200-30484600	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr6:30483200-30484600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr6:30483200-30484600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:30483200-30484600	Active TSS	Brain Anterior Caudate	brain
22	chr6:30483200-30485000	Flanking Active TSS	Dnd41	blood
23	chr6:30483400-30484000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr6:30483400-30484400	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr6:30483400-30484600	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr6:30483400-30484600	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr6:30483400-30484600	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr6:30483400-30484600	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr6:30483400-30484800	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr6:30483400-30484800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr6:30483400-30484800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr6:30483400-30484800	Active TSS	Thymus	Thymus
33	chr6:30483600-30484000	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr6:30483600-30484000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:30483600-30484000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:30483600-30484000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:30483600-30484000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:30483600-30484000	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr6:30483600-30484000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
40	chr6:30483600-30484000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
41	chr6:30483600-30484000	Flanking Bivalent TSS/Enh	HepG2	liver
42	chr6:30483600-30484000	Flanking Active TSS	K562	blood
43	chr6:30483600-30484200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr6:30483600-30484200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr6:30483600-30484200	Active TSS	Liver	Liver
46	chr6:30483600-30484200	Flanking Active TSS	Fetal Muscle Trunk	muscle
47	chr6:30483600-30484200	Flanking Active TSS	NHEK	skin
48	chr6:30483600-30484200	Active TSS	Osteobl	bone
49	chr6:30483600-30484400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr6:30483600-30484400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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