Variant report

Variant	rs375057578
Chromosome Location	chr6:30882824-30882825
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:97)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:97 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr6:30881944-30883329	K562	blood:	n/a	n/a
2	YY1	chr6:30881752-30882940	K562	blood:	n/a	chr6:30882642-30882654
3	YY1	chr6:30881415-30882961	HepG2	liver:	n/a	chr6:30882642-30882654
4	CTCF	chr6:30882820-30882970	HepG2	liver:	n/a	n/a
5	CTCF	chr6:30881367-30884041	SK-N-SH	brain:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
6	POLR2A	chr6:30881788-30882858	GM12891	blood:	n/a	n/a
7	TAL1	chr6:30882041-30883214	K562	blood:	n/a	n/a
8	POLR2A	chr6:30881501-30883780	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr6:30881802-30882958	K562	blood:	n/a	n/a
10	POLR2A	chr6:30881632-30883343	H1-hESC	embryonic stem cell:	n/a	n/a
11	PML	chr6:30881748-30883158	K562	blood:	n/a	chr6:30882918-30882926
12	POLR2A	chr6:30881844-30883256	Raji	blood:	n/a	n/a
13	MYC	chr6:30881816-30882941	K562	blood:	n/a	n/a
14	POLR2A	chr6:30881806-30882919	K562	blood:	n/a	n/a
15	ZNF143	chr6:30882780-30883610	K562	blood:	n/a	chr6:30883075-30883094
16	MXI1	chr6:30881049-30883003	SK-N-SH	brain:	n/a	n/a
17	UBTF	chr6:30881936-30882927	K562	blood:	n/a	n/a
18	IRF1	chr6:30881846-30883041	K562	blood:	n/a	chr6:30882915-30882929 chr6:30882917-30882928
19	POLR2A	chr6:30881436-30884176	HepG2	liver:	n/a	n/a
20	MAX	chr6:30881801-30882852	K562	blood:	n/a	n/a
21	POLR2A	chr6:30881705-30882844	HL-60	blood:	n/a	n/a
22	POLR2A	chr6:30881834-30883064	K562	blood:	n/a	n/a
23	PML	chr6:30881732-30883476	K562	blood:	n/a	chr6:30882918-30882926
24	POLR2A	chr6:30881804-30882897	GM12892	blood:	n/a	n/a
25	TBL1XR1	chr6:30881707-30883012	K562	blood:	n/a	n/a
26	YY1	chr6:30882504-30882878	GM12878	blood:	n/a	chr6:30882642-30882654
27	CTCF	chr6:30882740-30882890	HUVEC	blood vessel:	n/a	n/a
28	ARID3A	chr6:30881787-30882995	K562	blood:	n/a	n/a
29	NR2F2	chr6:30881902-30883015	K562	blood:	n/a	n/a
30	POLR2A	chr6:30881565-30883086	PFSK-1	brain:	n/a	n/a
31	MYC	chr6:30881797-30882884	K562	blood:	n/a	n/a
32	POLR2A	chr6:30881771-30883196	K562	blood:	n/a	n/a
33	TEAD4	chr6:30881721-30883771	K562	blood:	n/a	n/a
34	POLR2A	chr6:30881845-30882939	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr6:30881853-30883329	K562	blood:	n/a	n/a
36	CTCF	chr6:30882820-30882970	GM12868	blood:	n/a	n/a
37	CBX3	chr6:30881734-30882968	K562	blood:	n/a	n/a
38	MAX	chr6:30881811-30882831	K562	blood:	n/a	n/a
39	MBD4	chr6:30881744-30882884	HepG2	liver:	n/a	n/a
40	POLR2A	chr6:30881641-30882883	PANC-1	pancreas:	n/a	n/a
41	POLR2A	chr6:30881359-30883343	K562	blood:	n/a	n/a
42	POLR2A	chr6:30881859-30883001	K562	blood:	n/a	n/a
43	CTCF	chr6:30882700-30882850	GM12864	blood:	n/a	n/a
44	MTA3	chr6:30882790-30883244	GM12878	blood:	n/a	n/a
45	MAZ	chr6:30881711-30882956	K562	blood:	n/a	n/a
46	POLR2A	chr6:30881533-30882892	HUVEC	blood vessel:	n/a	n/a
47	YY1	chr6:30881782-30882898	GM12892	blood:	n/a	chr6:30882642-30882654
48	NFIC	chr6:30881756-30882845	HepG2	liver:	n/a	n/a
49	RCOR1	chr6:30881861-30882990	K562	blood:	n/a	n/a
50	POLR2A	chr6:30881656-30882877	HCT-116	colon:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:30847750..30851239-chr6:30880214..30883075,5	K562	blood:
2	chr6:30850549..30855941-chr6:30880357..30883667,13	MCF-7	breast:
3	chr6:30793814..30798702-chr6:30880453..30884092,5	K562	blood:
4	chr6:30847750..30854588-chr6:30880214..30885422,8	K562	blood:
5	chr6:30880736..30883349-chr6:30890122..30892611,2	MCF-7	breast:
6	chr6:30882036..30883658-chr6:31081525..31084682,3	MCF-7	breast:
7	chr6:30881341..30883528-chr6:31050692..31052360,2	K562	blood:
8	chr6:30523025..30525668-chr6:30880813..30884106,3	K562	blood:
9	chr6:30881805..30883309-chr6:31050438..31053270,2	MCF-7	breast:
10	chr6:30882042..30885135-chr6:30886350..30889389,4	MCF-7	breast:
11	chr6:30844121..30846194-chr6:30880539..30883879,3	K562	blood:
12	chr6:30843383..30845810-chr6:30880379..30882936,3	K562	blood:
13	chr6:30882744..30883495-chr6:31055361..31056022,2	K562	blood:
14	chr6:30881968..30885056-chr6:30885339..30888267,3	MCF-7	breast:
15	chr6:30854396..30859063-chr6:30880954..30884819,5	K562	blood:
16	chr6:30881341..30883550-chr6:31049543..31052360,3	K562	blood:
17	chr6:30707880..30713865-chr6:30880456..30883497,7	MCF-7	breast:
18	chr6:30709387..30712006-chr6:30881214..30883426,2	K562	blood:

No data

Variant related genes	Relation type
VARS2	TF binding region
ENSG00000272273	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000214894	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000204540	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000222895	Chromatin interaction
ENSG00000237775	Chromatin interaction
ENSG00000264594	Chromatin interaction
ENSG00000204576	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1031677	chr6:30857542-30972865	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv525438	chr6:30864829-30933975	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv523346	chr6:30882513-30893941	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30881200-30883000	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr6:30881400-30883000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr6:30881400-30883600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:30881400-30884200	Active TSS	Esophagus	oesophagus
5	chr6:30881600-30883000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr6:30882200-30883000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:30882200-30883000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr6:30882200-30883000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:30882200-30883000	Flanking Active TSS	Fetal Muscle Trunk	muscle
10	chr6:30882200-30883000	Flanking Active TSS	Placenta	Placenta
11	chr6:30882200-30883000	Flanking Active TSS	HMEC	breast
12	chr6:30882200-30883000	Flanking Active TSS	HSMM	muscle
13	chr6:30882200-30883000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr6:30882200-30883000	Flanking Active TSS	NHLF	lung
15	chr6:30882200-30883200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr6:30882200-30883200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr6:30882200-30883200	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr6:30882200-30883200	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr6:30882200-30883200	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr6:30882200-30883200	Flanking Active TSS	Fetal Heart	heart
21	chr6:30882200-30883200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr6:30882200-30883400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr6:30882200-30883400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:30882200-30883400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:30882200-30883400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:30882200-30883400	Flanking Active TSS	Liver	Liver
27	chr6:30882200-30883400	Flanking Active TSS	Fetal Lung	lung
28	chr6:30882200-30883400	Flanking Active TSS	Hela-S3	cervix
29	chr6:30882200-30883600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:30882200-30883800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:30882200-30883800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr6:30882200-30883800	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr6:30882200-30884000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr6:30882400-30883000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr6:30882400-30883000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:30882400-30883000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr6:30882400-30883000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:30882400-30883000	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr6:30882400-30883000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr6:30882400-30883000	Flanking Active TSS	Fetal Intestine Large	intestine
41	chr6:30882400-30883000	Flanking Active TSS	Fetal Thymus	thymus
42	chr6:30882400-30883000	Flanking Active TSS	Pancreas	Pancrea
43	chr6:30882400-30883000	Flanking Active TSS	NHDF-Ad	bronchial
44	chr6:30882400-30883200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr6:30882400-30883200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr6:30882400-30883200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:30882400-30883200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:30882400-30883200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr6:30882400-30883200	Flanking Active TSS	Fetal Brain Female	brain
50	chr6:30882400-30883400	Flanking Active TSS	Colon Smooth Muscle	Colon

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