Variant report

Variant	rs551232750
Chromosome Location	chr6:30883150-30883151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

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	RAD21	chr6:30883036-30883836	HCT-116	colon:	n/a	chr6:30883454-30883473
3	CTCF	chr6:30881367-30884041	SK-N-SH	brain:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
4	CTCF	chr6:30883101-30883204	GM19240	blood:	n/a	n/a
5	RAD21	chr6:30882997-30883889	HCT-116	colon:	n/a	chr6:30883454-30883473
6	CTCF	chr6:30883145-30883803	HCT-116	colon:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
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	chr6:30881632-30883343	H1-hESC	embryonic stem cell:	n/a	n/a
10	PML	chr6:30881748-30883158	K562	blood:	n/a	chr6:30882918-30882926
11	CTCF	chr6:30883112-30883165	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:30881844-30883256	Raji	blood:	n/a	n/a
13	ZNF143	chr6:30882780-30883610	K562	blood:	n/a	chr6:30883075-30883094
14	POLR2A	chr6:30881436-30884176	HepG2	liver:	n/a	n/a
15	PML	chr6:30881732-30883476	K562	blood:	n/a	chr6:30882918-30882926
16	CTCF	chr6:30883020-30883170	AoAF	blood vessel:	n/a	n/a
17	CTCF	chr6:30883000-30883150	GM12865	blood:	n/a	n/a
18	CTCF	chr6:30883020-30883170	GM12865	blood:	n/a	n/a
19	POLR2A	chr6:30881771-30883196	K562	blood:	n/a	n/a
20	TEAD4	chr6:30881721-30883771	K562	blood:	n/a	n/a
21	POLR2A	chr6:30881853-30883329	K562	blood:	n/a	n/a
22	RAD21	chr6:30882942-30884015	SK-N-SH	brain:	n/a	chr6:30883454-30883473
23	CTCF	chr6:30883149-30883721	MCF-7	breast:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
24	CTCF	chr6:30883089-30883213	Spleen_OC	spleen:	n/a	n/a
25	CTCF	chr6:30882881-30883783	A549	lung:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
26	POLR2A	chr6:30881359-30883343	K562	blood:	n/a	n/a
27	MTA3	chr6:30882790-30883244	GM12878	blood:	n/a	n/a
28	CTCF	chr6:30883103-30883169	ProgFib	skin:	n/a	n/a
29	CTCF	chr6:30883120-30883270	GM12870	blood:	n/a	n/a
30	MYBL2	chr6:30882854-30883641	HepG2	liver:	n/a	n/a
31	CTCF	chr6:30883128-30883189	K562	blood:	n/a	n/a
32	CTCF	chr6:30883094-30883225	GM19238	blood:	n/a	n/a
33	CTCF	chr6:30883080-30883230	GM12878	blood:	n/a	n/a
34	MTA3	chr6:30881276-30883714	GM12878	blood:	n/a	n/a
35	CTCF	chr6:30883040-30883190	SK-N-SH_RA	brain:	n/a	n/a
36	POLR2A	chr6:30881798-30883569	K562	blood:	n/a	n/a
37	POLR2A	chr6:30881822-30883151	Hela-S3	cervix:	n/a	n/a
38	RAD21	chr6:30883150-30883835	A549	lung:	n/a	chr6:30883454-30883473
39	CTCF	chr6:30883092-30883759	K562	blood:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
40	CTCF	chr6:30883113-30883208	GM12891	blood:	n/a	n/a
41	CTCF	chr6:30883145-30883231	GM10248	blood:	n/a	n/a
42	CTCF	chr6:30882830-30883937	HCT-116	colon:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
43	POLR2A	chr6:30882859-30883221	GM12878	blood:	n/a	n/a
44	SMC3	chr6:30882823-30884061	SK-N-SH	brain:	n/a	n/a
45	MAZ	chr6:30883131-30883596	GM12878	blood:	n/a	n/a
46	NR2F2	chr6:30881705-30883792	K562	blood:	n/a	n/a
47	CTCF	chr6:30883098-30883211	GM12892	blood:	n/a	n/a
48	RAD21	chr6:30883048-30883840	H1-hESC	embryonic stem cell:	n/a	chr6:30883454-30883473
49	POLR2A	chr6:30883127-30883427	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr6:30881680-30883663	K562	blood:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30883149..30883983-chr6:31038127..31038765,2	MCF-7	breast:
2	chr6:30883032..30883759-chr6:31011810..31012818,4	MCF-7	breast:
3	chr6:30850549..30855941-chr6:30880357..30883667,13	MCF-7	breast:
4	chr6:30793814..30798702-chr6:30880453..30884092,5	K562	blood:
5	chr6:30847750..30854588-chr6:30880214..30885422,8	K562	blood:
6	chr6:30880736..30883349-chr6:30890122..30892611,2	MCF-7	breast:
7	chr6:30882036..30883658-chr6:31081525..31084682,3	MCF-7	breast:
8	chr6:30881341..30883528-chr6:31050692..31052360,2	K562	blood:
9	chr6:30523025..30525668-chr6:30880813..30884106,3	K562	blood:
10	chr6:30882935..30883738-chr6:31047207..31048204,5	MCF-7	breast:
11	chr6:30882943..30883998-chr6:31010336..31011408,3	MCF-7	breast:
12	chr6:30881805..30883309-chr6:31050438..31053270,2	MCF-7	breast:
13	chr6:30882042..30885135-chr6:30886350..30889389,4	MCF-7	breast:
14	chr6:30844121..30846194-chr6:30880539..30883879,3	K562	blood:
15	chr6:30882873..30883896-chr6:31038173..31038772,3	K562	blood:
16	chr6:30882744..30883495-chr6:31055361..31056022,2	K562	blood:
17	chr6:30881968..30885056-chr6:30885339..30888267,3	MCF-7	breast:
18	chr6:30882829..30883945-chr6:31036385..31037390,5	MCF-7	breast:
19	chr6:30789462..30790321-chr6:30882992..30883906,2	K562	blood:
20	chr6:30854396..30859063-chr6:30880954..30884819,5	K562	blood:
21	chr6:30881341..30883550-chr6:31049543..31052360,3	K562	blood:
22	chr6:30707880..30713865-chr6:30880456..30883497,7	MCF-7	breast:
23	chr6:30709387..30712006-chr6:30881214..30883426,2	K562	blood:

No data

Variant related genes	Relation type
VARS2	TF binding region
ENSG00000272273	Chromatin interaction
ENSG00000204540	Chromatin interaction
ENSG00000264594	Chromatin interaction
ENSG00000222895	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000214894	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000137411	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	chr6:30881400-30883600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:30881400-30884200	Active TSS	Esophagus	oesophagus
3	chr6:30882200-30883200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
4	chr6:30882200-30883200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr6:30882200-30883200	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr6:30882200-30883200	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr6:30882200-30883200	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr6:30882200-30883200	Flanking Active TSS	Fetal Heart	heart
9	chr6:30882200-30883200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr6:30882200-30883400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr6:30882200-30883400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:30882200-30883400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:30882200-30883400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:30882200-30883400	Flanking Active TSS	Liver	Liver
15	chr6:30882200-30883400	Flanking Active TSS	Fetal Lung	lung
16	chr6:30882200-30883400	Flanking Active TSS	Hela-S3	cervix
17	chr6:30882200-30883600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:30882200-30883800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:30882200-30883800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr6:30882200-30883800	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr6:30882200-30884000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr6:30882400-30883200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr6:30882400-30883200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr6:30882400-30883200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:30882400-30883200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:30882400-30883200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr6:30882400-30883200	Flanking Active TSS	Fetal Brain Female	brain
28	chr6:30882400-30883400	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr6:30882400-30883400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr6:30882400-30883400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr6:30882400-30883400	Transcr. at gene 5' and 3'	K562	blood
32	chr6:30882400-30883600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:30882400-30883600	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr6:30882400-30883600	Flanking Active TSS	Dnd41	blood
35	chr6:30882400-30883600	Flanking Active TSS	NHEK	skin
36	chr6:30882600-30883200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:30882600-30883200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:30882600-30883200	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr6:30882600-30883200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr6:30882600-30883200	Enhancers	Small Intestine	intestine
41	chr6:30882600-30883400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr6:30882600-30883400	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr6:30882600-30883400	Flanking Active TSS	GM12878-XiMat	blood
44	chr6:30882600-30883800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:30882600-30884000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:30882600-30884000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:30882600-30884000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:30882600-30884800	Weak transcription	Aorta	Aorta
49	chr6:30882600-30885000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:30882600-30885000	Enhancers	Lung	lung

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