Variant report

Variant	rs10484552
Chromosome Location	chr6:30484036-30484037
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:370)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:370 , 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	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	FOS	chr6:30483943-30484627	HUVEC	blood vessel:	n/a	chr6:30484499-30484511
5	CHD2	chr6:30483896-30484286	K562	blood:	n/a	n/a
6	STAT3	chr6:30483983-30484581	GM12878	blood:	n/a	chr6:30484371-30484382
7	BHLHE40	chr6:30483825-30484524	K562	blood:	n/a	n/a
8	POLR2A	chr6:30483573-30484673	MCF-7	breast:	n/a	n/a
9	JUND	chr6:30483820-30484116	H1-hESC	embryonic stem cell:	n/a	n/a
10	SPI1	chr6:30483772-30484552	GM12891	blood:	n/a	n/a
11	FOXA1	chr6:30483755-30484338	HepG2	liver:	n/a	n/a
12	PML	chr6:30483709-30484668	K562	blood:	n/a	n/a
13	GABPA	chr6:30483808-30484476	A549	lung:	n/a	n/a
14	CEBPB	chr6:30483781-30484157	A549	lung:	n/a	chr6:30483969-30483982 chr6:30483969-30483982 chr6:30483969-30483980 chr6:30483969-30483982 chr6:30484020-30484028
15	SPI1	chr6:30483804-30484234	GM12878	blood:	n/a	n/a
16	POLR2A	chr6:30483761-30484188	H1-hESC	embryonic stem cell:	n/a	n/a
17	E2F4	chr6:30483790-30484635	MCF10A-Er-Src	breast:	n/a	chr6:30484019-30484028
18	PML	chr6:30483790-30484705	K562	blood:	n/a	n/a
19	MAX	chr6:30483875-30484547	K562	blood:	n/a	n/a
20	MYC	chr6:30483807-30484604	K562	blood:	n/a	n/a
21	ZNF143	chr6:30483866-30484515	K562	blood:	n/a	n/a
22	POLR2A	chr6:30483579-30484738	SK-N-MC	brain:	n/a	n/a
23	GABPA	chr6:30483881-30484145	H1-hESC	embryonic stem cell:	n/a	n/a
24	CUX1	chr6:30483839-30484536	K562	blood:	n/a	n/a
25	ZC3H11A	chr6:30483986-30484585	K562	blood:	n/a	n/a
26	SIN3A	chr6:30483978-30484518	GM12878	blood:	n/a	n/a
27	FOXP2	chr6:30483897-30484145	SK-N-MC	brain:	n/a	n/a
28	NFIC	chr6:30483879-30484645	GM12878	blood:	n/a	n/a
29	CBX3	chr6:30483500-30485224	K562	blood:	n/a	n/a
30	EP300	chr6:30483764-30484235	HepG2	liver:	n/a	chr6:30483970-30483984
31	POLR2A	chr6:30483665-30484691	K562	blood:	n/a	n/a
32	FOXP2	chr6:30483853-30484167	PFSK-1	brain:	n/a	n/a
33	CEBPB	chr6:30483770-30484632	A549	lung:	n/a	chr6:30483969-30483982 chr6:30483969-30483982 chr6:30483969-30483980 chr6:30483969-30483982 chr6:30484020-30484028
34	POLR2A	chr6:30483854-30484632	HCT-116	colon:	n/a	n/a
35	POLR2A	chr6:30483788-30484220	HepG2	liver:	n/a	n/a
36	POLR2A	chr6:30483755-30484105	GM12891	blood:	n/a	n/a
37	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
38	MAFK	chr6:30483845-30484645	K562	blood:	n/a	n/a
39	POLR2A	chr6:30483823-30484621	PBDE	blood:	n/a	n/a
40	MYC	chr6:30483857-30484438	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPD	chr6:30483694-30484681	K562	blood:	n/a	chr6:30483970-30483981
42	POLR2A	chr6:30483714-30484561	GM18951	blood:	n/a	n/a
43	SPI1	chr6:30483796-30484243	HL-60	blood:	n/a	n/a
44	SP1	chr6:30483737-30484586	A549	lung:	n/a	n/a
45	ZNF143	chr6:30483927-30484439	GM12878	blood:	n/a	n/a
46	EGR1	chr6:30483808-30484207	K562	blood:	n/a	n/a
47	POLR2A	chr6:30483745-30484674	MCF10A-Er-Src	breast:	n/a	n/a
48	SIN3AK20	chr6:30483848-30484196	HepG2	liver:	n/a	n/a
49	CHD1	chr6:30483753-30484533	GM12878	blood:	n/a	n/a
50	PAX5	chr6:30483944-30484192	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30484033-30484083	MCF-7	breast:	n/a
2	chr6:30484033-30484083	HCM	heart:	n/a
3	chr6:30484033-30484083	HRE	kidney:	n/a
4	chr6:30484033-30484083	CMK	blood:	n/a
5	chr6:30484033-30484083	MCF10A-Er-Src	breast:	n/a
6	chr6:30484033-30484083	GM12891	blood:	n/a
7	chr6:30484033-30484083	AoSMC	blood vessel:	n/a
8	chr6:30484033-30484083	SK-N-SH_RA	brain:	n/a
9	chr6:30484033-30484083	AG04449	skin:	fetal
10	chr6:30484033-30484083	AG09309	skin:	n/a
11	chr6:30484033-30484083	NB4	blood:	n/a
12	chr6:30484033-30484083	AG09319	gingival:	n/a
13	chr6:30484033-30484083	NHDF-neo	bronchial:	n/a
14	chr6:30484033-30484083	HCT-116	colon:	n/a
15	chr6:30484033-30484083	HCF	heart:	n/a
16	chr6:30484033-30484083	Caco-2	colon:	n/a
17	chr6:30484033-30484083	T-47D	breast:	n/a
18	chr6:30484033-30484083	Hepatocyte	liver:	n/a
19	chr6:30484033-30484083	BJ	skin:	n/a
20	chr6:30484033-30484083	BE2_C	brain:	n/a
21	chr6:30484033-30484083	A549	lung:	n/a
22	chr6:30484033-30484083	H1-hESC	embryonic stem cell:	embryo
23	chr6:30484033-30484083	RPTEC	kidney:	n/a
24	chr6:30484033-30484083	Hela-S3	cervix:	n/a
25	chr6:30484033-30484083	LNCaP	prostate:	n/a
26	chr6:30484033-30484083	HEEpiC	esophagus:	n/a
27	chr6:30484033-30484083	HEK293	kidney:	embryo
28	chr6:30484033-30484083	SAEC	small airway:	n/a
29	chr6:30484033-30484083	U87	brain:	n/a
30	chr6:30484033-30484083	K562	blood:	n/a
31	chr6:30484033-30484083	HNPCEpiC	eye:	n/a
32	chr6:30484033-30484083	SK-N-MC	brain:	n/a
33	chr6:30484033-30484083	HRCEpiC	kidney:	n/a
34	chr6:30484033-30484083	HUVEC	blood vessel:	n/a
35	chr6:30484033-30484083	AG04450	lung:	fetal
36	chr6:30484033-30484083	PrEC	prostate:	n/a
37	chr6:30484033-30484083	NT2-D1	testis:	n/a
38	chr6:30484033-30484083	SKMC	muscle:	n/a
39	chr6:30484033-30484083	HCPEpiC	choroid plexus:	n/a
40	chr6:30484033-30484083	HRPEpiC	eye:	n/a
41	chr6:30484033-30484083	HAEpiC	amniotic membrane:	n/a
42	chr6:30484033-30484083	GM12878	blood:	n/a
43	chr6:30484033-30484083	Jurkat	blood:	n/a
44	chr6:30484033-30484083	HIPEpiC	eye:	n/a
45	chr6:30484033-30484083	IMR90	lung:	fetal
46	chr6:30484033-30484083	PFSK-1	brain:	n/a
47	chr6:30484033-30484083	GM19239	blood:	n/a
48	chr6:30484033-30484083	AG10803	skin:	n/a
49	chr6:30484033-30484083	HPAEpiC	pulmonary alveolar:	n/a
50	chr6:30484033-30484083	HMEC	breast:	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
ENSG00000204568	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000266183	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000204574	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000204564	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11965214	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28780107	0.91[AMR][1000 genomes]
rs28780108	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28894081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28986316	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28986317	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs41315800	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
6	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
7	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

No data

Chromatin state (count:125 , 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	chr6:30483200-30484200	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr6:30483200-30484400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:30483200-30484400	Active TSS	Brain Angular Gyrus	brain
15	chr6:30483200-30484600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:30483200-30484600	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr6:30483200-30484600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr6:30483200-30484600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:30483200-30484600	Active TSS	Brain Anterior Caudate	brain
20	chr6:30483200-30485000	Flanking Active TSS	Dnd41	blood
21	chr6:30483400-30484400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr6:30483400-30484600	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr6:30483400-30484600	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr6:30483400-30484600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr6:30483400-30484600	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr6:30483400-30484800	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr6:30483400-30484800	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr6:30483400-30484800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr6:30483400-30484800	Active TSS	Thymus	Thymus
30	chr6:30483600-30484200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr6:30483600-30484200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr6:30483600-30484200	Active TSS	Liver	Liver
33	chr6:30483600-30484200	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr6:30483600-30484200	Flanking Active TSS	NHEK	skin
35	chr6:30483600-30484200	Active TSS	Osteobl	bone
36	chr6:30483600-30484400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:30483600-30484400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr6:30483600-30484400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr6:30483600-30484400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:30483600-30484400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr6:30483600-30484400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:30483600-30484400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
43	chr6:30483600-30484400	Active TSS	Esophagus	oesophagus
44	chr6:30483600-30484400	Active TSS	Fetal Intestine Small	intestine
45	chr6:30483600-30484400	Active TSS	Left Ventricle	heart
46	chr6:30483600-30484400	Active TSS	Lung	lung
47	chr6:30483600-30484400	Active TSS	Rectal Smooth Muscle	rectum
48	chr6:30483600-30484400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
49	chr6:30483600-30484600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:30483600-30484600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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