Variant report

Variant	rs184436050
Chromosome Location	chr6:30883231-30883232
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:122)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 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	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	RAD21	chr6:30882997-30883889	HCT-116	colon:	n/a	chr6:30883454-30883473
5	CTCF	chr6:30883145-30883803	HCT-116	colon:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
6	POLR2A	chr6:30881501-30883780	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr6:30881632-30883343	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr6:30883210-30883774	HepG2	liver:	n/a	chr6:30883454-30883473
9	POLR2A	chr6:30881844-30883256	Raji	blood:	n/a	n/a
10	SMC3	chr6:30883222-30883692	K562	blood:	n/a	n/a
11	ZNF143	chr6:30882780-30883610	K562	blood:	n/a	chr6:30883075-30883094
12	CTCF	chr6:30883208-30883676	HepG2	liver:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
13	CTCF	chr6:30883219-30883674	T-47D	breast:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
14	POLR2A	chr6:30881436-30884176	HepG2	liver:	n/a	n/a
15	RAD21	chr6:30883215-30883644	A549	lung:	n/a	chr6:30883454-30883473
16	RAD21	chr6:30883183-30883754	MCF-7	breast:	n/a	chr6:30883454-30883473
17	PML	chr6:30881732-30883476	K562	blood:	n/a	chr6:30882918-30882926
18	CTCF	chr6:30883197-30883667	GM12878	blood:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
19	MAZ	chr6:30883224-30883361	HepG2	liver:	n/a	n/a
20	RAD21	chr6:30883199-30883819	MCF-7	breast:	n/a	chr6:30883454-30883473
21	POLR2A	chr6:30883226-30883406	H1-hESC	embryonic stem cell:	n/a	n/a
22	TEAD4	chr6:30881721-30883771	K562	blood:	n/a	n/a
23	POLR2A	chr6:30881853-30883329	K562	blood:	n/a	n/a
24	RAD21	chr6:30882942-30884015	SK-N-SH	brain:	n/a	chr6:30883454-30883473
25	CTCF	chr6:30883167-30883672	MCF-7	breast:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
26	CTCF	chr6:30883149-30883721	MCF-7	breast:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
27	RAD21	chr6:30883162-30883755	IMR90	lung:	n/a	chr6:30883454-30883473
28	CTCF	chr6:30882881-30883783	A549	lung:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
29	POLR2A	chr6:30881359-30883343	K562	blood:	n/a	n/a
30	MTA3	chr6:30882790-30883244	GM12878	blood:	n/a	n/a
31	RAD21	chr6:30883214-30883710	ECC-1	luminal epithelium:	n/a	chr6:30883454-30883473
32	CTCF	chr6:30883120-30883270	GM12870	blood:	n/a	n/a
33	MYBL2	chr6:30882854-30883641	HepG2	liver:	n/a	n/a
34	RAD21	chr6:30883192-30883781	A549	lung:	n/a	chr6:30883454-30883473
35	CBX3	chr6:30883216-30883677	K562	blood:	n/a	chr6:30883260-30883271
36	MTA3	chr6:30881276-30883714	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:30881798-30883569	K562	blood:	n/a	n/a
38	RAD21	chr6:30883190-30883691	SK-N-SH_RA	brain:	n/a	chr6:30883454-30883473
39	CTCF	chr6:30883216-30883666	H1-hESC	embryonic stem cell:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
40	RAD21	chr6:30883181-30883759	H1-hESC	embryonic stem cell:	n/a	chr6:30883454-30883473
41	RAD21	chr6:30883150-30883835	A549	lung:	n/a	chr6:30883454-30883473
42	CTCF	chr6:30883092-30883759	K562	blood:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
43	RAD21	chr6:30883170-30883750	ECC-1	luminal epithelium:	n/a	chr6:30883454-30883473
44	E2F4	chr6:30883227-30883251	MCF10A-Er-Src	breast:	n/a	n/a
45	CTCF	chr6:30883145-30883231	GM10248	blood:	n/a	n/a
46	CTCF	chr6:30882830-30883937	HCT-116	colon:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
47	SMC3	chr6:30883185-30883757	Hela-S3	cervix:	n/a	n/a
48	SMC3	chr6:30882823-30884061	SK-N-SH	brain:	n/a	n/a
49	MAZ	chr6:30883131-30883596	GM12878	blood:	n/a	n/a
50	NR2F2	chr6:30881705-30883792	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30883192-30883242	CMK	blood:	n/a
2	chr6:30883203-30883253	HAEpiC	amniotic membrane:	n/a
3	chr6:30883203-30883253	BJ	skin:	n/a
4	chr6:30883192-30883242	RPTEC	kidney:	n/a
5	chr6:30883192-30883242	BE2_C	brain:	n/a
6	chr6:30883192-30883242	HepG2	liver:	n/a
7	chr6:30883203-30883253	CMK	blood:	n/a
8	chr6:30883192-30883242	HL-60	blood:	n/a
9	chr6:30883203-30883253	MCF10A-Er-Src	breast:	n/a
10	chr6:30883192-30883242	NH-A	brain:	n/a
11	chr6:30883192-30883242	HCT-116	colon:	n/a
12	chr6:30883203-30883253	SKMC	muscle:	n/a
13	chr6:30883203-30883253	A549	lung:	n/a
14	chr6:30883203-30883253	U87	brain:	n/a
15	chr6:30883192-30883242	GM12892	blood:	n/a
16	chr6:30883192-30883242	HCM	heart:	n/a
17	chr6:30883192-30883242	Jurkat	blood:	n/a
18	chr6:30883203-30883253	HPAEpiC	pulmonary alveolar:	n/a
19	chr6:30883192-30883242	HIPEpiC	eye:	n/a
20	chr6:30883192-30883242	LNCaP	prostate:	n/a
21	chr6:30883192-30883242	HCPEpiC	choroid plexus:	n/a
22	chr6:30883203-30883253	RPTEC	kidney:	n/a
23	chr6:30883203-30883253	ProgFib	skin:	n/a
24	chr6:30883192-30883242	Hepatocyte	liver:	n/a
25	chr6:30883203-30883253	SAEC	small airway:	n/a
26	chr6:30883192-30883242	K562	blood:	n/a
27	chr6:30883203-30883253	SK-N-MC	brain:	n/a
28	chr6:30883192-30883242	HRE	kidney:	n/a
29	chr6:30883203-30883253	HCT-116	colon:	n/a
30	chr6:30883192-30883242	SAEC	small airway:	n/a
31	chr6:30883203-30883253	Jurkat	blood:	n/a
32	chr6:30883192-30883242	A549	lung:	n/a
33	chr6:30883203-30883253	Hepatocyte	liver:	n/a
34	chr6:30883203-30883253	ovcar-3	ovarian:	n/a
35	chr6:30883203-30883253	HEK293	kidney:	embryo
36	chr6:30883192-30883242	HEK293	kidney:	embryo
37	chr6:30883192-30883242	GM12891	blood:	n/a
38	chr6:30883203-30883253	PFSK-1	brain:	n/a
39	chr6:30883192-30883242	ovcar-3	ovarian:	n/a
40	chr6:30883203-30883253	HCM	heart:	n/a
41	chr6:30883203-30883253	GM12891	blood:	n/a
42	chr6:30883203-30883253	ECC-1	luminal epithelium:	n/a
43	chr6:30883203-30883253	Caco-2	colon:	n/a
44	chr6:30883203-30883253	NB4	blood:	n/a
45	chr6:30883192-30883242	AG09309	skin:	n/a
46	chr6:30883192-30883242	AG09319	gingival:	n/a
47	chr6:30883192-30883242	ECC-1	luminal epithelium:	n/a
48	chr6:30883192-30883242	MCF10A-Er-Src	breast:	n/a
49	chr6:30883203-30883253	IMR90	lung:	fetal
50	chr6:30883192-30883242	GM06990	blood:	n/a

(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
VARS2	CpG island
ENSG00000272273	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000204540	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000222895	Chromatin interaction
ENSG00000264594	Chromatin interaction
ENSG00000214894	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000137331	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	chr6:30882200-30883400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr6:30882200-30883400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:30882200-30883400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:30882200-30883400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:30882200-30883400	Flanking Active TSS	Liver	Liver
8	chr6:30882200-30883400	Flanking Active TSS	Fetal Lung	lung
9	chr6:30882200-30883400	Flanking Active TSS	Hela-S3	cervix
10	chr6:30882200-30883600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:30882200-30883800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:30882200-30883800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr6:30882200-30883800	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr6:30882200-30884000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr6:30882400-30883400	Flanking Active TSS	Colon Smooth Muscle	Colon
16	chr6:30882400-30883400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr6:30882400-30883400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr6:30882400-30883400	Transcr. at gene 5' and 3'	K562	blood
19	chr6:30882400-30883600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:30882400-30883600	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr6:30882400-30883600	Flanking Active TSS	Dnd41	blood
22	chr6:30882400-30883600	Flanking Active TSS	NHEK	skin
23	chr6:30882600-30883400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr6:30882600-30883400	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr6:30882600-30883400	Flanking Active TSS	GM12878-XiMat	blood
26	chr6:30882600-30883800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:30882600-30884000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:30882600-30884000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:30882600-30884000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:30882600-30884800	Weak transcription	Aorta	Aorta
31	chr6:30882600-30885000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:30882600-30885000	Enhancers	Lung	lung
33	chr6:30882600-30886800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:30882800-30883400	Enhancers	Primary B cells from cord blood	blood
35	chr6:30882800-30883400	Enhancers	Primary T cells from cord blood	blood
36	chr6:30882800-30883400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr6:30882800-30883400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:30882800-30883400	Enhancers	Stomach Mucosa	stomach
39	chr6:30882800-30883400	Enhancers	HSMMtube	muscle
40	chr6:30882800-30883600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:30882800-30883600	Enhancers	Primary B cells from peripheral blood	blood
42	chr6:30882800-30883600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr6:30882800-30883600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:30882800-30883600	Enhancers	Brain Cingulate Gyrus	brain
45	chr6:30882800-30883600	Enhancers	Fetal Muscle Leg	muscle
46	chr6:30882800-30883600	Flanking Active TSS	HepG2	liver
47	chr6:30882800-30883800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr6:30882800-30883800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr6:30882800-30883800	Enhancers	Gastric	stomach
50	chr6:30882800-30883800	Enhancers	Placenta Amnion	Placenta Amnion

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