Variant report

Variant	rs185605280
Chromosome Location	chr6:30882565-30882566
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:150)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:150 , 50 per page) page: 1 2 3

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	HMGN3	chr6:30881545-30882609	K562	blood:	n/a	n/a
5	ELF1	chr6:30881753-30882694	MCF-7	breast:	n/a	chr6:30882378-30882391
6	POLR2A	chr6:30881737-30882646	HEK293	kidney:	n/a	n/a
7	CTCF	chr6:30881367-30884041	SK-N-SH	brain:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
8	POLR2A	chr6:30881788-30882858	GM12891	blood:	n/a	n/a
9	POLR2A	chr6:30881826-30882649	Hela-S3	cervix:	n/a	n/a
10	MYBL2	chr6:30881759-30882763	HepG2	liver:	n/a	n/a
11	TAL1	chr6:30882041-30883214	K562	blood:	n/a	n/a
12	POLR2A	chr6:30881501-30883780	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr6:30881802-30882958	K562	blood:	n/a	n/a
14	POLR2A	chr6:30881632-30883343	H1-hESC	embryonic stem cell:	n/a	n/a
15	SMC3	chr6:30881749-30882610	Hela-S3	cervix:	n/a	n/a
16	PML	chr6:30881748-30883158	K562	blood:	n/a	chr6:30882918-30882926
17	POLR2A	chr6:30881844-30883256	Raji	blood:	n/a	n/a
18	MYC	chr6:30881816-30882941	K562	blood:	n/a	n/a
19	POLR2A	chr6:30881806-30882919	K562	blood:	n/a	n/a
20	MXI1	chr6:30881049-30883003	SK-N-SH	brain:	n/a	n/a
21	UBTF	chr6:30881936-30882927	K562	blood:	n/a	n/a
22	IRF1	chr6:30881846-30883041	K562	blood:	n/a	chr6:30882915-30882929 chr6:30882917-30882928
23	MAX	chr6:30881535-30882635	A549	lung:	n/a	n/a
24	TEAD4	chr6:30881777-30882659	HepG2	liver:	n/a	n/a
25	E2F6	chr6:30881837-30882608	K562	blood:	n/a	n/a
26	POLR2A	chr6:30881436-30884176	HepG2	liver:	n/a	n/a
27	MAX	chr6:30881801-30882852	K562	blood:	n/a	n/a
28	POLR2A	chr6:30881705-30882844	HL-60	blood:	n/a	n/a
29	MAX	chr6:30881484-30882798	HepG2	liver:	n/a	n/a
30	POLR2A	chr6:30881834-30883064	K562	blood:	n/a	n/a
31	POLR2A	chr6:30881499-30882789	GM12892	blood:	n/a	n/a
32	PML	chr6:30881732-30883476	K562	blood:	n/a	chr6:30882918-30882926
33	POLR2A	chr6:30881804-30882897	GM12892	blood:	n/a	n/a
34	TBL1XR1	chr6:30881707-30883012	K562	blood:	n/a	n/a
35	HCFC1	chr6:30881602-30882783	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr6:30881748-30882742	GM18505	blood:	n/a	n/a
37	YY1	chr6:30882504-30882878	GM12878	blood:	n/a	chr6:30882642-30882654
38	ARID3A	chr6:30881787-30882995	K562	blood:	n/a	n/a
39	CTCF	chr6:30882500-30882650	NHEK	skin:	n/a	n/a
40	CTCF	chr6:30882480-30882630	AG10803	skin:	n/a	n/a
41	NR2F2	chr6:30881902-30883015	K562	blood:	n/a	n/a
42	CTCF	chr6:30882500-30882650	GM12867	blood:	n/a	n/a
43	POLR2A	chr6:30881565-30883086	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr6:30881664-30882803	HUVEC	blood vessel:	n/a	n/a
45	MYC	chr6:30881797-30882884	K562	blood:	n/a	n/a
46	BCL3	chr6:30882005-30882607	A549	lung:	n/a	n/a
47	POLR2A	chr6:30881771-30883196	K562	blood:	n/a	n/a
48	TEAD4	chr6:30881721-30883771	K562	blood:	n/a	n/a
49	POLR2A	chr6:30881845-30882939	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr6:30881853-30883329	K562	blood:	n/a	n/a

No data

(count:19 , 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	chr6:30682386..30686066-chr6:30878897..30882722,4	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	chr6:30881805..30883309-chr6:31050438..31053270,2	MCF-7	breast:
11	chr6:30882042..30885135-chr6:30886350..30889389,4	MCF-7	breast:
12	chr6:30850840..30855328-chr6:30877838..30882665,10	MCF-7	breast:
13	chr6:30844121..30846194-chr6:30880539..30883879,3	K562	blood:
14	chr6:30843383..30845810-chr6:30880379..30882936,3	K562	blood:
15	chr6:30881968..30885056-chr6:30885339..30888267,3	MCF-7	breast:
16	chr6:30854396..30859063-chr6:30880954..30884819,5	K562	blood:
17	chr6:30881341..30883550-chr6:31049543..31052360,3	K562	blood:
18	chr6:30707880..30713865-chr6:30880456..30883497,7	MCF-7	breast:
19	chr6:30709387..30712006-chr6:30881214..30883426,2	K562	blood:

No data

Variant related genes	Relation type
VARS2	TF binding region
ENSG00000137337	Chromatin interaction
ENSG00000214894	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000222895	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000204540	Chromatin interaction
ENSG00000237775	Chromatin interaction
ENSG00000264594	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	chr6:30881400-30882600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:30881400-30882600	Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr6:30881400-30882600	Active TSS	Left Ventricle	heart
5	chr6:30881400-30882600	Active TSS	Psoas Muscle	Psoas
6	chr6:30881400-30882600	Active TSS	Right Ventricle	heart
7	chr6:30881400-30882800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:30881400-30882800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr6:30881400-30882800	Active TSS	Ovary	ovary
10	chr6:30881400-30883000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr6:30881400-30883600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:30881400-30884200	Active TSS	Esophagus	oesophagus
13	chr6:30881600-30882600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:30881600-30882600	Active TSS	Aorta	Aorta
15	chr6:30881600-30882600	Active TSS	Brain Angular Gyrus	brain
16	chr6:30881600-30882600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:30881600-30882600	Active TSS	Brain Substantia Nigra	brain
18	chr6:30881600-30882600	Active TSS	Colonic Mucosa	Colon
19	chr6:30881600-30882600	Active TSS	Gastric	stomach
20	chr6:30881600-30882600	Active TSS	Lung	lung
21	chr6:30881600-30882600	Active TSS	Rectal Smooth Muscle	rectum
22	chr6:30881600-30882600	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr6:30881600-30882600	Active TSS	A549	lung
24	chr6:30881600-30882800	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr6:30881600-30882800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr6:30881600-30882800	Flanking Active TSS	Osteobl	bone
27	chr6:30881600-30883000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr6:30881800-30882600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:30881800-30882600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:30881800-30882600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:30881800-30882600	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr6:30881800-30882600	Active TSS	Fetal Intestine Small	intestine
33	chr6:30881800-30882600	Active TSS	Small Intestine	intestine
34	chr6:30881800-30882600	Active TSS	Thymus	Thymus
35	chr6:30881800-30882600	Active TSS	GM12878-XiMat	blood
36	chr6:30882000-30882800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:30882000-30882800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
38	chr6:30882200-30882600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:30882200-30882600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:30882200-30882600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:30882200-30882800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:30882200-30882800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr6:30882200-30882800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr6:30882200-30882800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:30882200-30882800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr6:30882200-30882800	Flanking Active TSS	Fetal Brain Male	brain
47	chr6:30882200-30882800	Flanking Active TSS	HSMMtube	muscle
48	chr6:30882200-30882800	Flanking Active TSS	HUVEC	blood vessel
49	chr6:30882200-30882800	Flanking Active TSS	NH-A	brain
50	chr6:30882200-30883000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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