Variant report

Variant	rs1265044
Chromosome Location	chr6:31090318-31090319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31090270-31090320	HUVEC	blood vessel:	n/a
2	chr6:31090270-31090320	U87	brain:	n/a
3	chr6:31090280-31090330	HRE	kidney:	n/a
4	chr6:31090270-31090320	Hela-S3	cervix:	n/a
5	chr6:31090280-31090330	RPTEC	kidney:	n/a
6	chr6:31090270-31090320	HCPEpiC	choroid plexus:	n/a
7	chr6:31090270-31090320	HCT-116	colon:	n/a
8	chr6:31090280-31090330	NHDF-neo	bronchial:	n/a
9	chr6:31090270-31090320	H1-hESC	embryonic stem cell:	embryo
10	chr6:31090270-31090320	HAEpiC	amniotic membrane:	n/a
11	chr6:31090280-31090330	SAEC	small airway:	n/a
12	chr6:31090270-31090320	HepG2	liver:	n/a
13	chr6:31090270-31090320	GM12878	blood:	n/a
14	chr6:31090270-31090320	HL-60	blood:	n/a
15	chr6:31090270-31090320	K562	blood:	n/a
16	chr6:31090280-31090330	Hepatocyte	liver:	n/a
17	chr6:31090280-31090330	BJ	skin:	n/a
18	chr6:31090280-31090330	ovcar-3	ovarian:	n/a
19	chr6:31090280-31090330	HEK293	kidney:	embryo
20	chr6:31090280-31090330	MCF-7	breast:	n/a
21	chr6:31090280-31090330	PFSK-1	brain:	n/a
22	chr6:31090280-31090330	AG10803	skin:	n/a
23	chr6:31090270-31090320	RPTEC	kidney:	n/a
24	chr6:31090280-31090330	IMR90	lung:	fetal
25	chr6:31090270-31090320	LNCaP	prostate:	n/a
26	chr6:31090280-31090330	PANC-1	pancreas:	n/a
27	chr6:31090280-31090330	HCM	heart:	n/a
28	chr6:31090270-31090320	HIPEpiC	eye:	n/a
29	chr6:31090280-31090330	A549	lung:	n/a
30	chr6:31090280-31090330	H1-hESC	embryonic stem cell:	embryo
31	chr6:31090270-31090320	SKMC	muscle:	n/a
32	chr6:31090280-31090330	ECC-1	luminal epithelium:	n/a
33	chr6:31090270-31090320	MCF-7	breast:	n/a
34	chr6:31090280-31090330	ProgFib	skin:	n/a
35	chr6:31090270-31090320	PrEC	prostate:	n/a
36	chr6:31090270-31090320	AoSMC	blood vessel:	n/a
37	chr6:31090280-31090330	SK-N-SH_RA	brain:	n/a
38	chr6:31090270-31090320	AG10803	skin:	n/a
39	chr6:31090270-31090320	AG04449	skin:	fetal
40	chr6:31090270-31090320	Caco-2	colon:	n/a
41	chr6:31090270-31090320	ovcar-3	ovarian:	n/a
42	chr6:31090280-31090330	HNPCEpiC	eye:	n/a
43	chr6:31090280-31090330	K562	blood:	n/a
44	chr6:31090280-31090330	SK-N-SH	brain:	n/a
45	chr6:31090280-31090330	SK-N-MC	brain:	n/a
46	chr6:31090270-31090320	HRCEpiC	kidney:	n/a
47	chr6:31090280-31090330	NB4	blood:	n/a
48	chr6:31090270-31090320	HEK293	kidney:	embryo
49	chr6:31090270-31090320	T-47D	breast:	n/a
50	chr6:31090270-31090320	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr6:31085743..31088587-chr6:31090162..31092542,3	K562	blood:
2	chr6:31082053..31084455-chr6:31089530..31091861,4	MCF-7	breast:
3	chr6:31079457..31085209-chr6:31085850..31092700,13	MCF-7	breast:

No data

Variant related genes	Relation type
CDSN	CpG island
ENSG00000204539	Chromatin interaction
ENSG00000204542	Chromatin interaction
ENSG00000204540	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1265184	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1029442	chr6:31006647-31449207	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
7	nsv427750	chr6:31028290-31234581	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv428140	chr6:31028290-31462106	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
9	esv2758042	chr6:31028290-31497106	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
10	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
11	nsv1033227	chr6:31071547-31101674	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv525933	chr6:31081205-31142245	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv462747	chr6:31082361-31092124	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv601491	chr6:31082361-31092124	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv884137	chr6:31082361-31129310	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	esv1797052	chr6:31083813-31095816	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	esv1820685	chr6:31083813-31097453	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	esv1799829	chr6:31087133-31097183	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31082600-31092800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:31082800-31093000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:31083200-31092800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:31083200-31094200	Weak transcription	Aorta	Aorta
5	chr6:31083200-31105400	Weak transcription	Spleen	Spleen
6	chr6:31083400-31093400	Weak transcription	HSMMtube	muscle
7	chr6:31083600-31091000	Weak transcription	A549	lung
8	chr6:31083600-31092600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:31083800-31093600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:31085400-31090600	Weak transcription	Brain Substantia Nigra	brain
11	chr6:31085400-31090600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:31085400-31090600	Weak transcription	Pancreas	Pancrea
13	chr6:31085400-31090600	Weak transcription	Stomach Mucosa	stomach
14	chr6:31085600-31090600	Weak transcription	Right Atrium	heart
15	chr6:31085600-31093200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr6:31088000-31094200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr6:31088000-31094800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:31088000-31095000	Enhancers	HMEC	breast
19	chr6:31088200-31095000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:31089000-31091400	Enhancers	Duodenum Mucosa	Duodenum
21	chr6:31089000-31096200	Enhancers	Lung	lung
22	chr6:31089200-31091400	Enhancers	NHDF-Ad	bronchial
23	chr6:31089200-31092400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:31089400-31091000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:31089400-31091800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr6:31089600-31090600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:31089600-31090600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:31089600-31090600	Weak transcription	Adipose Nuclei	Adipose
29	chr6:31089600-31090800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:31089600-31093600	Enhancers	HUVEC	blood vessel
31	chr6:31089600-31094800	Enhancers	NHEK	skin
32	chr6:31089800-31091200	Flanking Active TSS	Hela-S3	cervix
33	chr6:31089800-31091400	Enhancers	NHLF	lung
34	chr6:31089800-31091600	Enhancers	Rectal Smooth Muscle	rectum
35	chr6:31089800-31092200	Enhancers	Gastric	stomach
36	chr6:31090000-31090600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr6:31090000-31090600	Enhancers	Colon Smooth Muscle	Colon
38	chr6:31090000-31090600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr6:31090000-31090600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr6:31090000-31090600	Enhancers	Osteobl	bone
41	chr6:31090000-31091200	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr6:31090000-31091200	Enhancers	Stomach Smooth Muscle	stomach
43	chr6:31090000-31091400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:31090000-31091400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:31090000-31091600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr6:31090000-31091600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr6:31090000-31091600	Enhancers	Fetal Stomach	stomach
48	chr6:31090000-31091800	Enhancers	Right Ventricle	heart
49	chr6:31090000-31095800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:31090200-31091400	Enhancers	HSMM	muscle

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