Variant report

Variant	rs533019153
Chromosome Location	chr6:35754786-35754787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:35754720-35754870	HCPEpiC	choroid plexus:	n/a	n/a
2	CTCF	chr6:35754680-35754830	HMEC	breast:	n/a	n/a
3	POLR2A	chr6:35754617-35755072	MCF-7	breast:	n/a	n/a
4	MYC	chr6:35754720-35754889	MCF-7	breast:	n/a	n/a
5	UBTF	chr6:35754639-35754794	K562	blood:	n/a	n/a
6	POLR2A	chr6:35754743-35754877	MCF-7	breast:	n/a	n/a
7	MYC	chr6:35754738-35754886	MCF-7	breast:	n/a	n/a
8	CTCF	chr6:35754640-35754790	GM12865	blood:	n/a	n/a
9	POLR2A	chr6:35754607-35755028	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:35754758-35754808	SK-N-SH_RA	brain:	n/a
2	chr6:35754758-35754808	HRPEpiC	eye:	n/a
3	chr6:35754758-35754808	GM12891	blood:	n/a
4	chr6:35754758-35754808	HCF	heart:	n/a
5	chr6:35754758-35754808	Hela-S3	cervix:	n/a
6	chr6:35754758-35754808	HMEC	breast:	n/a
7	chr6:35754758-35754808	NH-A	brain:	n/a
8	chr6:35754758-35754808	Caco-2	colon:	n/a
9	chr6:35754758-35754808	LNCaP	prostate:	n/a
10	chr6:35754758-35754808	HEEpiC	esophagus:	n/a
11	chr6:35754758-35754808	HIPEpiC	eye:	n/a
12	chr6:35754758-35754808	HPAEpiC	pulmonary alveolar:	n/a
13	chr6:35754758-35754808	NHBE	bronchial:	n/a
14	chr6:35754758-35754808	GM06990	blood:	n/a
15	chr6:35754758-35754808	HUVEC	blood vessel:	n/a
16	chr6:35754758-35754808	RPTEC	kidney:	n/a
17	chr6:35754758-35754808	HepG2	liver:	n/a
18	chr6:35754758-35754808	GM12892	blood:	n/a
19	chr6:35754758-35754808	HEK293	kidney:	embryo
20	chr6:35754758-35754808	AG09309	skin:	n/a
21	chr6:35754758-35754808	A549	lung:	n/a
22	chr6:35754758-35754808	HNPCEpiC	eye:	n/a
23	chr6:35754758-35754808	SKMC	muscle:	n/a
24	chr6:35754758-35754808	GM19239	blood:	n/a
25	chr6:35754758-35754808	K562	blood:	n/a
26	chr6:35754758-35754808	PANC-1	pancreas:	n/a
27	chr6:35754758-35754808	AG10803	skin:	n/a
28	chr6:35754758-35754808	HCM	heart:	n/a
29	chr6:35754758-35754808	NB4	blood:	n/a
30	chr6:35754758-35754808	SK-N-SH	brain:	n/a
31	chr6:35754758-35754808	HRE	kidney:	n/a
32	chr6:35754758-35754808	BJ	skin:	n/a
33	chr6:35754758-35754808	HAEpiC	amniotic membrane:	n/a
34	chr6:35754758-35754808	NT2-D1	testis:	n/a
35	chr6:35754758-35754808	HCPEpiC	choroid plexus:	n/a
36	chr6:35754758-35754808	T-47D	breast:	n/a
37	chr6:35754758-35754808	H1-hESC	embryonic stem cell:	embryo
38	chr6:35754758-35754808	CMK	blood:	n/a
39	chr6:35754758-35754808	AG04450	lung:	fetal
40	chr6:35754758-35754808	SAEC	small airway:	n/a
41	chr6:35754758-35754808	U87	brain:	n/a
42	chr6:35754758-35754808	HRCEpiC	kidney:	n/a
43	chr6:35754758-35754808	PrEC	prostate:	n/a
44	chr6:35754758-35754808	AG04449	skin:	fetal
45	chr6:35754758-35754808	GM12878	blood:	n/a
46	chr6:35754758-35754808	HL-60	blood:	n/a
47	chr6:35754758-35754808	ECC-1	luminal epithelium:	n/a
48	chr6:35754758-35754808	BE2_C	brain:	n/a
49	chr6:35754758-35754808	SK-N-MC	brain:	n/a
50	chr6:35754758-35754808	ovcar-3	ovarian:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35753847..35759789-chr6:35762486..35768711,9	K562	blood:
2	chr6:35753638..35758618-chr6:35762629..35767095,7	K562	blood:
3	chr6:35744273..35746880-chr6:35754146..35757378,3	K562	blood:
4	chr6:35435012..35436668-chr6:35752247..35755003,2	MCF-7	breast:

No data

Variant related genes	Relation type
CLPSL1	TF binding region
CLPSL1	CpG island
ENSG00000137392	Chromatin interaction
ENSG00000196748	Chromatin interaction
ENSG00000198755	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:35 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv7891	chr6:35744190-35772539	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv1798998	chr6:35744609-35765951	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	esv33535	chr6:35747703-35771315	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv819076	chr6:35748900-35766425	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	esv1793061	chr6:35749079-35765951	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
15	esv1806871	chr6:35749079-35771286	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
16	esv1816210	chr6:35749079-35771286	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	esv1845214	chr6:35749079-35771286	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	esv1808861	chr6:35752498-35767027	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
19	esv3346095	chr6:35753374-35760172	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	esv3398673	chr6:35753474-35760172	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	esv3382730	chr6:35753474-35768272	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
22	esv3425427	chr6:35753574-35760172	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	esv15463	chr6:35754516-35766780	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
24	nsv823668	chr6:35754541-35766200	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
25	esv3345560	chr6:35754561-35766798	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
26	esv1009904	chr6:35754714-35762835	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
27	nsv823669	chr6:35754714-35765975	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
28	nsv823670	chr6:35754714-35766200	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
29	nsv823671	chr6:35754714-35766900	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
30	esv1801420	chr6:35754783-35765965	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
31	esv1817098	chr6:35754783-35765965	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
32	esv1813882	chr6:35754783-35767027	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
33	esv1811536	chr6:35754783-35772513	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
34	esv1792767	chr6:35754783-35775360	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
35	esv1791730	chr6:35754783-35805144	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35746400-35755400	Weak transcription	Pancreas	Pancrea
2	chr6:35753000-35754800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:35754200-35755400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:35754400-35754800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
5	chr6:35754400-35755000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
6	chr6:35754400-35755000	Bivalent Enhancer	Right Ventricle	heart
7	chr6:35754400-35755000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
8	chr6:35754400-35755200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:35754400-35756000	Bivalent Enhancer	Placenta	Placenta
10	chr6:35754600-35754800	Bivalent Enhancer	Primary B cells from cord blood	blood
11	chr6:35754600-35754800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:35754600-35754800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:35754600-35754800	Bivalent Enhancer	Adipose Nuclei	Adipose
14	chr6:35754600-35754800	Bivalent Enhancer	Fetal Intestine Large	intestine
15	chr6:35754600-35754800	Flanking Bivalent TSS/Enh	Lung	lung
16	chr6:35754600-35754800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
17	chr6:35754600-35754800	Flanking Active TSS	HMEC	breast
18	chr6:35754600-35755000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr6:35754600-35755000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr6:35754600-35755000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:35754600-35755000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:35754600-35755000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:35754600-35755000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:35754600-35755000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:35754600-35755000	Bivalent/Poised TSS	Colonic Mucosa	Colon
26	chr6:35754600-35755000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
27	chr6:35754600-35755000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr6:35754600-35755000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr6:35754600-35755000	Bivalent Enhancer	Left Ventricle	heart
30	chr6:35754600-35755000	Bivalent Enhancer	Ovary	ovary
31	chr6:35754600-35755200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:35754600-35755200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:35754600-35755200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:35754600-35755200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:35754600-35755400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
36	chr6:35754600-35755600	Bivalent Enhancer	Liver	Liver

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