Variant report

Variant	rs554766628
Chromosome Location	chr6:114664778-114664779
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:155)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:155 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:114664760-114664910	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr6:114663503-114664890	MCF-7	breast:	n/a	n/a
3	MAX	chr6:114663348-114665063	H1-hESC	embryonic stem cell:	n/a	chr6:114663909-114663919
4	CTCF	chr6:114664708-114664957	A549	lung:	n/a	n/a
5	CTCF	chr6:114664601-114665057	MCF-7	breast:	n/a	n/a
6	CTBP2	chr6:114662281-114665659	H1-hESC	embryonic stem cell:	n/a	n/a
7	TAF1	chr6:114664627-114665017	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr6:114664559-114665085	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr6:114664700-114664850	BE2_C	brain:	n/a	n/a
10	CTCF	chr6:114664740-114664890	HMEC	breast:	n/a	n/a
11	RAD21	chr6:114664543-114665093	A549	lung:	n/a	n/a
12	MYC	chr6:114664768-114664875	MCF-7	breast:	n/a	n/a
13	CTCF	chr6:114664720-114664870	GM12875	blood:	n/a	n/a
14	MYBL2	chr6:114664555-114665038	HepG2	liver:	n/a	n/a
15	CTCF	chr6:114664680-114664830	A549	lung:	n/a	n/a
16	RAD21	chr6:114664561-114665108	HepG2	liver:	n/a	n/a
17	CTCF	chr6:114664700-114664850	MCF-7	breast:	n/a	n/a
18	CTCF	chr6:114664760-114664910	AG10803	skin:	n/a	n/a
19	CTCF	chr6:114664740-114664890	GM12873	blood:	n/a	n/a
20	CTCF	chr6:114664760-114664910	SK-N-SH_RA	brain:	n/a	n/a
21	CHD2	chr6:114664643-114665180	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr6:114664740-114664890	GM12871	blood:	n/a	n/a
23	CTCF	chr6:114664762-114664898	GM19240	blood:	n/a	n/a
24	CTCF	chr6:114664742-114664942	HepG2	liver:	n/a	n/a
25	CTCF	chr6:114664680-114664830	RPTEC	kidney:	n/a	n/a
26	RAD21	chr6:114664654-114664947	A549	lung:	n/a	n/a
27	POLR2A	chr6:114663906-114665075	MCF-7	breast:	n/a	n/a
28	RAD21	chr6:114664738-114664909	GM12878	blood:	n/a	n/a
29	CTCF	chr6:114664723-114664899	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr6:114664757-114664898	GM12892	blood:	n/a	n/a
31	CTCF	chr6:114664720-114664870	BE2_C	brain:	n/a	n/a
32	CTCF	chr6:114664700-114664850	HAc	cerebellar:	n/a	n/a
33	CTCF	chr6:114664699-114664960	Gliobla	brain:	n/a	n/a
34	RAD21	chr6:114663725-114665085	H1-hESC	embryonic stem cell:	n/a	chr6:114664014-114664028
35	CTCF	chr6:114664760-114664910	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr6:114664606-114665013	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr6:114664420-114665279	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr6:114663702-114665121	H1-hESC	embryonic stem cell:	n/a	n/a
39	RAD21	chr6:114664561-114665088	ECC-1	luminal epithelium:	n/a	n/a
40	CTCF	chr6:114664720-114664870	Hela-S3	cervix:	n/a	n/a
41	RAD21	chr6:114664625-114665020	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr6:114664700-114664850	HCM	heart:	n/a	n/a
43	CTCF	chr6:114664688-114664958	Medullo	brain:	n/a	n/a
44	REST	chr6:114663741-114664832	H1-neurons	neurons:	n/a	chr6:114663896-114663909 chr6:114663894-114663904 chr6:114664009-114664019 chr6:114663799-114663812 chr6:114663791-114663804
45	CTCF	chr6:114664755-114664933	GM12891	blood:	n/a	n/a
46	MAFK	chr6:114664698-114664877	HepG2	liver:	n/a	n/a
47	CTCF	chr6:114664760-114664910	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr6:114664701-114664961	H1-hESC	embryonic stem cell:	n/a	n/a
49	HNF4G	chr6:114664637-114665066	HepG2	liver:	n/a	chr6:114664885-114664897 chr6:114664882-114664897 chr6:114664884-114664899 chr6:114664764-114664786
50	HNF4A	chr6:114664621-114665066	HepG2	liver:	n/a	chr6:114664885-114664897 chr6:114664883-114664898 chr6:114664884-114664899 chr6:114664764-114664786

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:114664754-114664804	U87	brain:	n/a
2	chr6:114664754-114664804	MCF-7	breast:	n/a
3	chr6:114664754-114664804	PrEC	prostate:	n/a
4	chr6:114664754-114664804	BJ	skin:	n/a
5	chr6:114664754-114664804	HCT-116	colon:	n/a
6	chr6:114664754-114664804	NHDF-neo	bronchial:	n/a
7	chr6:114664754-114664804	HEK293	kidney:	embryo
8	chr6:114664754-114664804	GM19239	blood:	n/a
9	chr6:114664754-114664804	A549	lung:	n/a
10	chr6:114664754-114664804	MCF10A-Er-Src	breast:	n/a
11	chr6:114664754-114664804	HepG2	liver:	n/a
12	chr6:114664754-114664804	HAEpiC	amniotic membrane:	n/a
13	chr6:114664754-114664804	PFSK-1	brain:	n/a
14	chr6:114664754-114664804	CMK	blood:	n/a
15	chr6:114664754-114664804	HRPEpiC	eye:	n/a
16	chr6:114664754-114664804	T-47D	breast:	n/a
17	chr6:114664754-114664804	GM12891	blood:	n/a
18	chr6:114664754-114664804	AG10803	skin:	n/a
19	chr6:114664754-114664804	AoSMC	blood vessel:	n/a
20	chr6:114664754-114664804	AG09319	gingival:	n/a
21	chr6:114664754-114664804	NT2-D1	testis:	n/a
22	chr6:114664754-114664804	HCF	heart:	n/a
23	chr6:114664754-114664804	BE2_C	brain:	n/a
24	chr6:114664754-114664804	HUVEC	blood vessel:	n/a
25	chr6:114664754-114664804	HCPEpiC	choroid plexus:	n/a
26	chr6:114664754-114664804	ECC-1	luminal epithelium:	n/a
27	chr6:114664754-114664804	NH-A	brain:	n/a
28	chr6:114664754-114664804	NB4	blood:	n/a
29	chr6:114664754-114664804	H1-hESC	embryonic stem cell:	embryo
30	chr6:114664754-114664804	HRCEpiC	kidney:	n/a
31	chr6:114664754-114664804	AG09309	skin:	n/a
32	chr6:114664754-114664804	SKMC	muscle:	n/a
33	chr6:114664754-114664804	Hela-S3	cervix:	n/a
34	chr6:114664754-114664804	AG04449	skin:	fetal
35	chr6:114664754-114664804	HPAEpiC	pulmonary alveolar:	n/a
36	chr6:114664754-114664804	ovcar-3	ovarian:	n/a
37	chr6:114664754-114664804	HIPEpiC	eye:	n/a
38	chr6:114664754-114664804	AG04450	lung:	fetal
39	chr6:114664754-114664804	HL-60	blood:	n/a
40	chr6:114664754-114664804	RPTEC	kidney:	n/a
41	chr6:114664754-114664804	SAEC	small airway:	n/a
42	chr6:114664754-114664804	HNPCEpiC	eye:	n/a
43	chr6:114664754-114664804	GM06990	blood:	n/a
44	chr6:114664754-114664804	HMEC	breast:	n/a
45	chr6:114664754-114664804	SK-N-SH	brain:	n/a
46	chr6:114664754-114664804	NHBE	bronchial:	n/a
47	chr6:114664754-114664804	Jurkat	blood:	n/a
48	chr6:114664754-114664804	ProgFib	skin:	n/a
49	chr6:114664754-114664804	Hepatocyte	liver:	n/a
50	chr6:114664754-114664804	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114662119..114667220-chr6:114669334..114673077,6	MCF-7	breast:
2	chr6:114290903..114293553-chr6:114664243..114666092,2	MCF-7	breast:

No data

Variant related genes	Relation type
HS3ST5	TF binding region
HS3ST5	CpG island
ENSG00000196591	Chromatin interaction
ENSG00000228624	Chromatin interaction
ENSG00000218089	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024062	chr6:114311029-114679557	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
2	esv34434	chr6:114465305-115462799	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv464024	chr6:114489321-114837181	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv604544	chr6:114489321-114837181	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv3692910	chr6:114597419-115480580	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv528128	chr6:114597657-115471129	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv818451	chr6:114597657-115471129	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	esv3390393	chr6:114662484-114665032	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv12960	chr6:114663097-114665140	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv604545	chr6:114663349-114664823	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114659800-114665400	Active TSS	H1 Cell Line	embryonic stem cell
2	chr6:114661000-114665000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr6:114661000-114665200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:114661000-114665800	Active TSS	Brain Anterior Caudate	brain
5	chr6:114661200-114665000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:114661200-114665200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:114661400-114665200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr6:114661400-114665400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr6:114661400-114665600	Active TSS	Brain Angular Gyrus	brain
10	chr6:114661600-114665000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:114661600-114665200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:114661800-114665000	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr6:114662200-114665200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:114662200-114665400	Active TSS	Brain Substantia Nigra	brain
15	chr6:114662200-114665600	Active TSS	Brain Cingulate Gyrus	brain
16	chr6:114662400-114665000	Active TSS	Fetal Kidney	kidney
17	chr6:114662400-114665400	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr6:114662600-114664800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr6:114662800-114664800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:114662800-114665000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:114662800-114665000	Active TSS	Colon Smooth Muscle	Colon
22	chr6:114662800-114665200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:114663000-114664800	Bivalent/Poised TSS	NHLF	lung
24	chr6:114663000-114665000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:114663000-114665000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:114663000-114665000	Bivalent Enhancer	Liver	Liver
27	chr6:114663000-114665000	Bivalent/Poised TSS	Psoas Muscle	Psoas
28	chr6:114663200-114664800	Active TSS	Right Atrium	heart
29	chr6:114663200-114665000	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr6:114663200-114665000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
31	chr6:114663200-114665200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:114663200-114665200	Active TSS	Rectal Smooth Muscle	rectum
33	chr6:114663400-114664800	Flanking Bivalent TSS/Enh	Ovary	ovary
34	chr6:114663400-114665000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:114663400-114665000	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr6:114663400-114665000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:114663400-114665000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:114663400-114665000	Active TSS	Stomach Mucosa	stomach
39	chr6:114663400-114665000	Bivalent/Poised TSS	A549	lung
40	chr6:114663400-114665200	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr6:114663600-114664800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:114663600-114664800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
43	chr6:114663800-114664800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
44	chr6:114663800-114665000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
45	chr6:114663800-114665600	Active TSS	Brain Hippocampus Middle	brain
46	chr6:114664000-114664800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:114664000-114664800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:114664000-114664800	Active TSS	Fetal Intestine Small	intestine
49	chr6:114664000-114664800	Flanking Active TSS	Pancreas	Pancrea
50	chr6:114664000-114665200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle

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