Variant report

Variant	rs72927370
Chromosome Location	chr6:70993060-70993061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr6:70992926-70993084	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr6:70992792-70993195	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF143	chr6:70992100-70993132	H1-hESC	embryonic stem cell:	n/a	chr6:70992758-70992768
4	JUND	chr6:70992390-70993207	H1-hESC	embryonic stem cell:	n/a	chr6:70992760-70992769
5	SIN3A	chr6:70992059-70993208	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr6:70991668-70993493	H1-hESC	embryonic stem cell:	n/a	chr6:70992069-70992079
7	CTBP2	chr6:70991548-70993379	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr6:70992868-70993120	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr6:70991344-70993609	H1-hESC	embryonic stem cell:	n/a	chr6:70992756-70992765 chr6:70992199-70992210 chr6:70991625-70991634 chr6:70993017-70993027 chr6:70992222-70992233 chr6:70992511-70992518
10	MAX	chr6:70991847-70993381	H1-hESC	embryonic stem cell:	n/a	chr6:70992069-70992079
11	E2F6	chr6:70991847-70993441	H1-hESC	embryonic stem cell:	n/a	chr6:70992756-70992765 chr6:70992199-70992210 chr6:70993017-70993027 chr6:70992222-70992233 chr6:70992511-70992518
12	TBP	chr6:70991827-70993067	H1-hESC	embryonic stem cell:	n/a	n/a
13	USF2	chr6:70992924-70993145	H1-hESC	embryonic stem cell:	n/a	n/a
14	GTF2F1	chr6:70992841-70993211	H1-hESC	embryonic stem cell:	n/a	n/a
15	MYC	chr6:70992927-70993156	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr6:70991955-70993365	H1-hESC	embryonic stem cell:	n/a	chr6:70992069-70992079
17	TAF1	chr6:70992729-70993084	H1-hESC	embryonic stem cell:	n/a	n/a
18	RFX5	chr6:70993016-70993108	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:70993022-70993072	ovcar-3	ovarian:	n/a
2	chr6:70993022-70993072	T-47D	breast:	n/a
3	chr6:70993022-70993072	BJ	skin:	n/a
4	chr6:70993022-70993072	HRPEpiC	eye:	n/a
5	chr6:70993022-70993072	ProgFib	skin:	n/a
6	chr6:70993022-70993072	Caco-2	colon:	n/a
7	chr6:70993022-70993072	HRCEpiC	kidney:	n/a
8	chr6:70993022-70993072	HEK293	kidney:	embryo
9	chr6:70993022-70993072	LNCaP	prostate:	n/a
10	chr6:70993022-70993072	SAEC	small airway:	n/a
11	chr6:70993022-70993072	HepG2	liver:	n/a
12	chr6:70993022-70993072	U87	brain:	n/a
13	chr6:70993022-70993072	SKMC	muscle:	n/a
14	chr6:70993022-70993072	Hepatocyte	liver:	n/a
15	chr6:70993022-70993072	PFSK-1	brain:	n/a
16	chr6:70993022-70993072	HEEpiC	esophagus:	n/a
17	chr6:70993022-70993072	MCF-7	breast:	n/a
18	chr6:70993022-70993072	AG09319	gingival:	n/a
19	chr6:70993022-70993072	Jurkat	blood:	n/a
20	chr6:70993022-70993072	K562	blood:	n/a
21	chr6:70993022-70993072	GM12892	blood:	n/a
22	chr6:70993022-70993072	HPAEpiC	pulmonary alveolar:	n/a
23	chr6:70993022-70993072	H1-hESC	embryonic stem cell:	embryo
24	chr6:70993022-70993072	PANC-1	pancreas:	n/a
25	chr6:70993022-70993072	A549	lung:	n/a
26	chr6:70993022-70993072	HCM	heart:	n/a
27	chr6:70993022-70993072	GM06990	blood:	n/a
28	chr6:70993022-70993072	AG04449	skin:	fetal
29	chr6:70993022-70993072	NB4	blood:	n/a
30	chr6:70993022-70993072	SK-N-SH_RA	brain:	n/a
31	chr6:70993022-70993072	HMEC	breast:	n/a
32	chr6:70993022-70993072	BE2_C	brain:	n/a
33	chr6:70993022-70993072	AG04450	lung:	fetal
34	chr6:70993022-70993072	IMR90	lung:	fetal
35	chr6:70993022-70993072	AG09309	skin:	n/a
36	chr6:70993022-70993072	GM19239	blood:	n/a
37	chr6:70993022-70993072	CMK	blood:	n/a
38	chr6:70993022-70993072	HIPEpiC	eye:	n/a
39	chr6:70993022-70993072	NH-A	brain:	n/a
40	chr6:70993022-70993072	AG10803	skin:	n/a
41	chr6:70993022-70993072	SK-N-SH	brain:	n/a
42	chr6:70993022-70993072	HCPEpiC	choroid plexus:	n/a
43	chr6:70993022-70993072	HCF	heart:	n/a
44	chr6:70993022-70993072	Hela-S3	cervix:	n/a
45	chr6:70993022-70993072	ECC-1	luminal epithelium:	n/a
46	chr6:70993022-70993072	HNPCEpiC	eye:	n/a
47	chr6:70993022-70993072	NT2-D1	testis:	n/a
48	chr6:70993022-70993072	NHBE	bronchial:	n/a
49	chr6:70993022-70993072	SK-N-MC	brain:	n/a
50	chr6:70993022-70993072	PrEC	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:70991484..70995327-chr6:71011821..71017351,5	K562	blood:
2	chr6:70991053..70993906-chr6:71103584..71105214,3	K562	blood:

No data

Variant related genes	Relation type
COL9A1	TF binding region
COL9A1	CpG island
ENSG00000237643	Chromatin interaction
ENSG00000112280	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16868975	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62420260	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62420261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6928611	0.93[ASN][1000 genomes]
rs9446222	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70990000-70993400	Enhancers	Fetal Brain Male	brain
2	chr6:70991400-70993200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
3	chr6:70991600-70993200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr6:70991600-70993200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
5	chr6:70991600-70993400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:70991800-70993200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr6:70991800-70993200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr6:70991800-70993200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
9	chr6:70991800-70993200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
10	chr6:70991800-70993400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr6:70992000-70993200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr6:70992000-70993200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:70992000-70993200	Enhancers	Gastric	stomach
14	chr6:70992000-70993200	Enhancers	Pancreas	Pancrea
15	chr6:70992000-70993400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr6:70992000-70993400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr6:70992200-70993400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr6:70992200-70993400	Active TSS	Brain Cingulate Gyrus	brain
19	chr6:70992400-70993200	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
20	chr6:70992400-70993200	Bivalent Enhancer	Colonic Mucosa	Colon
21	chr6:70992600-70993200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:70992600-70993200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
23	chr6:70992600-70993200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
24	chr6:70992800-70993200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:70992800-70993200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:70992800-70993200	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
27	chr6:70992800-70993200	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
28	chr6:70992800-70993200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
29	chr6:70992800-70993200	Flanking Active TSS	Fetal Brain Female	brain
30	chr6:70992800-70993200	Bivalent Enhancer	Lung	lung
31	chr6:70992800-70993200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
32	chr6:70993000-70993200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:70993000-70993200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:70993000-70993200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:70993000-70993200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:70993000-70993200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:70993000-70993200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:70993000-70993200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:70993000-70993200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
40	chr6:70993000-70993200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:70993000-70993200	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
42	chr6:70993000-70993200	Active TSS	Brain Germinal Matrix	brain
43	chr6:70993000-70993200	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:70993000-70993200	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr6:70993000-70993200	Bivalent Enhancer	Left Ventricle	heart
46	chr6:70993000-70993200	Enhancers	Right Atrium	heart
47	chr6:70993000-70993400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:70993000-70993400	Bivalent Enhancer	Right Ventricle	heart

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