Variant report

Variant	rs56354119
Chromosome Location	chr6:35704831-35704832
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:35704820-35704970	GM12878	blood:	n/a	n/a
2	RAD21	chr6:35704697-35705924	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr6:35704780-35704930	HBMEC	blood vessel:	n/a	n/a
4	CTCF	chr6:35704780-35704930	BE2_C	brain:	n/a	n/a
5	CTCF	chr6:35704715-35705974	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr6:35704700-35704850	AG09319	gingival:	n/a	n/a
7	CTCF	chr6:35704740-35704890	GM12873	blood:	n/a	n/a
8	CTCF	chr6:35704820-35704970	HRPEpiC	eye:	n/a	n/a
9	CTCF	chr6:35704780-35704930	GM12868	blood:	n/a	n/a
10	CTCF	chr6:35704720-35704870	AG04449	skin:	n/a	n/a
11	SMC3	chr6:35704633-35705992	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr6:35704700-35704850	GM06990	blood:	n/a	n/a
13	CTCF	chr6:35704680-35704950	HCM	heart:	n/a	n/a
14	CTCF	chr6:35704720-35704870	AG04450	lung:	n/a	n/a
15	CTCF	chr6:35704800-35704950	BJ	skin:	n/a	n/a
16	CTCF	chr6:35704800-35704950	HAc	cerebellar:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:35704822-35704872	HEK293	kidney:	embryo
2	chr6:35704822-35704872	GM12878	blood:	n/a
3	chr6:35704822-35704872	HAEpiC	amniotic membrane:	n/a
4	chr6:35704822-35704872	HRE	kidney:	n/a
5	chr6:35704822-35704872	NT2-D1	testis:	n/a
6	chr6:35704822-35704872	GM12892	blood:	n/a
7	chr6:35704822-35704872	SAEC	small airway:	n/a
8	chr6:35704822-35704872	PrEC	prostate:	n/a
9	chr6:35704822-35704872	H1-hESC	embryonic stem cell:	embryo
10	chr6:35704822-35704872	T-47D	breast:	n/a
11	chr6:35704822-35704872	AG09309	skin:	n/a
12	chr6:35704822-35704872	CMK	blood:	n/a
13	chr6:35704822-35704872	HCT-116	colon:	n/a
14	chr6:35704822-35704872	AoSMC	blood vessel:	n/a
15	chr6:35704822-35704872	Hepatocyte	liver:	n/a
16	chr6:35704822-35704872	HIPEpiC	eye:	n/a
17	chr6:35704822-35704872	Hela-S3	cervix:	n/a
18	chr6:35704822-35704872	HEEpiC	esophagus:	n/a
19	chr6:35704822-35704872	NH-A	brain:	n/a
20	chr6:35704822-35704872	Caco-2	colon:	n/a
21	chr6:35704822-35704872	SK-N-SH_RA	brain:	n/a
22	chr6:35704822-35704872	IMR90	lung:	fetal
23	chr6:35704822-35704872	PFSK-1	brain:	n/a
24	chr6:35704822-35704872	LNCaP	prostate:	n/a
25	chr6:35704822-35704872	HL-60	blood:	n/a
26	chr6:35704822-35704872	HNPCEpiC	eye:	n/a
27	chr6:35704822-35704872	HCM	heart:	n/a
28	chr6:35704822-35704872	ECC-1	luminal epithelium:	n/a
29	chr6:35704822-35704872	AG04449	skin:	fetal
30	chr6:35704822-35704872	AG04450	lung:	fetal
31	chr6:35704822-35704872	HepG2	liver:	n/a
32	chr6:35704822-35704872	NHBE	bronchial:	n/a
33	chr6:35704822-35704872	NB4	blood:	n/a
34	chr6:35704822-35704872	GM12891	blood:	n/a
35	chr6:35704822-35704872	MCF10A-Er-Src	breast:	n/a
36	chr6:35704822-35704872	HRCEpiC	kidney:	n/a
37	chr6:35704822-35704872	MCF-7	breast:	n/a
38	chr6:35704822-35704872	HCPEpiC	choroid plexus:	n/a
39	chr6:35704822-35704872	SK-N-SH	brain:	n/a
40	chr6:35704822-35704872	SK-N-MC	brain:	n/a
41	chr6:35704822-35704872	PANC-1	pancreas:	n/a
42	chr6:35704822-35704872	AG09319	gingival:	n/a
43	chr6:35704822-35704872	HUVEC	blood vessel:	n/a
44	chr6:35704822-35704872	HPAEpiC	pulmonary alveolar:	n/a
45	chr6:35704822-35704872	GM06990	blood:	n/a
46	chr6:35704822-35704872	K562	blood:	n/a
47	chr6:35704822-35704872	HCF	heart:	n/a
48	chr6:35704822-35704872	RPTEC	kidney:	n/a
49	chr6:35704822-35704872	GM19239	blood:	n/a
50	chr6:35704822-35704872	AG10803	skin:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35434775..35437842-chr6:35701549..35705876,5	MCF-7	breast:
2	chr6:35654784..35658036-chr6:35702203..35706321,5	MCF-7	breast:
3	chr6:35511057..35513907-chr6:35704750..35707121,2	K562	blood:
4	chr6:35433822..35437754-chr6:35703135..35706478,6	K562	blood:
5	chr6:35654156..35657013-chr6:35704693..35707749,4	K562	blood:
6	chr6:35463384..35465009-chr6:35703029..35705389,2	K562	blood:
7	chr6:35462682..35465009-chr6:35702407..35705389,2	K562	blood:
8	chr6:35655179..35657311-chr6:35699143..35705251,6	MCF-7	breast:

No data

Variant related genes	Relation type
ARMC12	TF binding region
ENSG00000232909	TF binding region
ARMC12	CpG island
ENSG00000232909	CpG island
ENSG00000228559	Chromatin interaction
ENSG00000096060	Chromatin interaction
ENSG00000007866	Chromatin interaction
ENSG00000198755	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10947565	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12193672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12200498	0.88[EUR][1000 genomes]
rs12203716	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12206670	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs45586442	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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	52 gene(s)	inside rSNPs	diseases
3	nsv602924	chr6:35505311-35750299	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv3430300	chr6:35549151-35959004	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv821646	chr6:35604428-35802594	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv885802	chr6:35621781-35787417	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
7	nsv885803	chr6:35621781-35805133	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv885804	chr6:35621781-35809776	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv428143	chr6:35637083-35806504	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv1028947	chr6:35670521-35714541	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv885805	chr6:35685955-35779879	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35700200-35706000	Enhancers	Pancreas	Pancrea
2	chr6:35700400-35705400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr6:35700400-35706000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr6:35700600-35705000	Weak transcription	Fetal Brain Male	brain
5	chr6:35700600-35705200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:35700600-35705200	Weak transcription	Fetal Kidney	kidney
7	chr6:35700600-35705400	Enhancers	Fetal Thymus	thymus
8	chr6:35700600-35705800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:35700600-35705800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr6:35700600-35705800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr6:35700600-35705800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:35700600-35706000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr6:35700600-35706400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr6:35700600-35707200	Weak transcription	Fetal Intestine Small	intestine
15	chr6:35700600-35708000	Weak transcription	Fetal Brain Female	brain
16	chr6:35700800-35705000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr6:35700800-35705000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:35700800-35705200	Weak transcription	HSMMtube	muscle
19	chr6:35700800-35705600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr6:35700800-35707400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:35700800-35710400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:35701000-35705000	Weak transcription	Fetal Muscle Leg	muscle
23	chr6:35701200-35705000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr6:35701200-35705000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:35701200-35705000	Weak transcription	Colon Smooth Muscle	Colon
26	chr6:35701200-35705000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr6:35701200-35705600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:35701200-35705800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:35701200-35706000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:35701600-35705200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:35701600-35705200	Weak transcription	HUVEC	blood vessel
32	chr6:35701800-35705000	Weak transcription	Colonic Mucosa	Colon
33	chr6:35701800-35705200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:35701800-35705200	Weak transcription	K562	blood
35	chr6:35701800-35707600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr6:35702000-35705000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr6:35702000-35707400	Weak transcription	Liver	Liver
38	chr6:35702400-35705800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:35702600-35705400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:35702600-35705600	Enhancers	Primary T cells from cord blood	blood
41	chr6:35702800-35705600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:35703000-35705000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr6:35703000-35705400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr6:35703000-35705800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr6:35703000-35706000	Enhancers	Spleen	Spleen
46	chr6:35703000-35707800	Weak transcription	Stomach Mucosa	stomach
47	chr6:35703200-35705800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr6:35703200-35705800	Enhancers	Stomach Smooth Muscle	stomach
49	chr6:35703200-35706000	Enhancers	Lung	lung
50	chr6:35703400-35705800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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