Variant report

Variant	rs6453649
Chromosome Location	chr6:73867968-73867969
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:73867933-73867983	MCF-7	breast:	n/a
2	chr6:73867933-73867983	ProgFib	skin:	n/a
3	chr6:73867933-73867983	GM12892	blood:	n/a
4	chr6:73867933-73867983	T-47D	breast:	n/a
5	chr6:73867933-73867983	GM12891	blood:	n/a
6	chr6:73867933-73867983	HCM	heart:	n/a
7	chr6:73867933-73867983	SKMC	muscle:	n/a
8	chr6:73867933-73867983	HPAEpiC	pulmonary alveolar:	n/a
9	chr6:73867933-73867983	U87	brain:	n/a
10	chr6:73867933-73867983	MCF10A-Er-Src	breast:	n/a
11	chr6:73867933-73867983	SAEC	small airway:	n/a
12	chr6:73867933-73867983	AG04449	skin:	fetal
13	chr6:73867933-73867983	PrEC	prostate:	n/a
14	chr6:73867933-73867983	ovcar-3	ovarian:	n/a
15	chr6:73867933-73867983	AG04450	lung:	fetal
16	chr6:73867933-73867983	LNCaP	prostate:	n/a
17	chr6:73867933-73867983	PANC-1	pancreas:	n/a
18	chr6:73867933-73867983	HCPEpiC	choroid plexus:	n/a
19	chr6:73867933-73867983	HIPEpiC	eye:	n/a
20	chr6:73867933-73867983	H1-hESC	embryonic stem cell:	embryo
21	chr6:73867933-73867983	NT2-D1	testis:	n/a
22	chr6:73867933-73867983	HL-60	blood:	n/a
23	chr6:73867933-73867983	Hela-S3	cervix:	n/a
24	chr6:73867933-73867983	GM12878	blood:	n/a
25	chr6:73867933-73867983	Jurkat	blood:	n/a
26	chr6:73867933-73867983	HCF	heart:	n/a
27	chr6:73867933-73867983	HRCEpiC	kidney:	n/a
28	chr6:73867933-73867983	NH-A	brain:	n/a
29	chr6:73867933-73867983	HAEpiC	amniotic membrane:	n/a
30	chr6:73867933-73867983	PFSK-1	brain:	n/a
31	chr6:73867933-73867983	SK-N-MC	brain:	n/a
32	chr6:73867933-73867983	AoSMC	blood vessel:	n/a
33	chr6:73867933-73867983	K562	blood:	n/a
34	chr6:73867933-73867983	RPTEC	kidney:	n/a
35	chr6:73867933-73867983	HEK293	kidney:	embryo
36	chr6:73867933-73867983	GM06990	blood:	n/a
37	chr6:73867933-73867983	CMK	blood:	n/a
38	chr6:73867933-73867983	NHBE	bronchial:	n/a
39	chr6:73867933-73867983	HCT-116	colon:	n/a
40	chr6:73867933-73867983	HMEC	breast:	n/a
41	chr6:73867933-73867983	HEEpiC	esophagus:	n/a
42	chr6:73867933-73867983	BE2_C	brain:	n/a
43	chr6:73867933-73867983	BJ	skin:	n/a
44	chr6:73867933-73867983	SK-N-SH	brain:	n/a
45	chr6:73867933-73867983	NB4	blood:	n/a
46	chr6:73867933-73867983	Hepatocyte	liver:	n/a
47	chr6:73867933-73867983	IMR90	lung:	fetal
48	chr6:73867933-73867983	HUVEC	blood vessel:	n/a
49	chr6:73867933-73867983	HepG2	liver:	n/a
50	chr6:73867933-73867983	AG09319	gingival:	n/a

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

No.	Distal block	Cell Line	Cell type
1	6:73859137-73881637..6:73927031-73938730	Hela-S3	cervix:
2	6:73859137-73881637..6:74062967-74076046	GM12878	blood:
3	6:73859137-73881637..6:74099986-74112890	GM12878	blood:

No data

Variant related genes	Relation type
ENSG00000234025	CpG island
ENSG00000080007	Chromatin interaction
ENSG00000224221	Chromatin interaction
ENSG00000203907	Chromatin interaction
ENSG00000238464	Chromatin interaction
ENSG00000203908	Chromatin interaction
ENSG00000203909	Chromatin interaction
ENSG00000256980	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1970547	0.85[YRI][hapmap]
rs1974369	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs2350387	0.85[YRI][hapmap]
rs2350389	0.87[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs4235874	0.90[JPT][hapmap]
rs6453644	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs6453645	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs6453646	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs6907229	0.85[YRI][hapmap]
rs6939575	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs7748418	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7762949	0.88[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap]
rs7763514	0.85[YRI][hapmap]
rs7769085	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs884957	0.95[CEU][hapmap];0.90[JPT][hapmap]
rs9343011	0.86[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs947748	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	esv1004012	chr6:73866875-73870455	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73846400-73879200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:73856600-73876600	Weak transcription	Primary B cells from cord blood	blood
3	chr6:73863200-73876400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:73863600-73878000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:73867000-73869000	Strong transcription	Primary hematopoietic stem cells	blood
6	chr6:73867000-73884600	Weak transcription	Primary T cells from cord blood	blood
7	chr6:73867400-73880600	Weak transcription	Aorta	Aorta
8	chr6:73867600-73868000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:73867600-73890400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:73867600-73890400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:73867800-73876400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:73867800-73876800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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