Variant report

Variant	rs199534441
Chromosome Location	chr6:30882717-30882718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:122)
CpG islands
(count:183)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:122 , 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	CTCF	chr6:30882580-30882730	NHLF	lung:	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	MYBL2	chr6:30881759-30882763	HepG2	liver:	n/a	n/a
8	TAL1	chr6:30882041-30883214	K562	blood:	n/a	n/a
9	POLR2A	chr6:30881501-30883780	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr6:30881802-30882958	K562	blood:	n/a	n/a
11	POLR2A	chr6:30881632-30883343	H1-hESC	embryonic stem cell:	n/a	n/a
12	PML	chr6:30881748-30883158	K562	blood:	n/a	chr6:30882918-30882926
13	POLR2A	chr6:30881844-30883256	Raji	blood:	n/a	n/a
14	MYC	chr6:30881816-30882941	K562	blood:	n/a	n/a
15	POLR2A	chr6:30881806-30882919	K562	blood:	n/a	n/a
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	MAX	chr6:30881484-30882798	HepG2	liver:	n/a	n/a
23	POLR2A	chr6:30881834-30883064	K562	blood:	n/a	n/a
24	POLR2A	chr6:30881499-30882789	GM12892	blood:	n/a	n/a
25	PML	chr6:30881732-30883476	K562	blood:	n/a	chr6:30882918-30882926
26	POLR2A	chr6:30881804-30882897	GM12892	blood:	n/a	n/a
27	TBL1XR1	chr6:30881707-30883012	K562	blood:	n/a	n/a
28	HCFC1	chr6:30881602-30882783	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr6:30881748-30882742	GM18505	blood:	n/a	n/a
30	YY1	chr6:30882504-30882878	GM12878	blood:	n/a	chr6:30882642-30882654
31	ARID3A	chr6:30881787-30882995	K562	blood:	n/a	n/a
32	NR2F2	chr6:30881902-30883015	K562	blood:	n/a	n/a
33	POLR2A	chr6:30881565-30883086	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr6:30881664-30882803	HUVEC	blood vessel:	n/a	n/a
35	MYC	chr6:30881797-30882884	K562	blood:	n/a	n/a
36	POLR2A	chr6:30881771-30883196	K562	blood:	n/a	n/a
37	TEAD4	chr6:30881721-30883771	K562	blood:	n/a	n/a
38	POLR2A	chr6:30881845-30882939	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr6:30881853-30883329	K562	blood:	n/a	n/a
40	MAX	chr6:30881824-30882805	NB4	blood:	n/a	n/a
41	CBX3	chr6:30881734-30882968	K562	blood:	n/a	n/a
42	MAX	chr6:30881811-30882831	K562	blood:	n/a	n/a
43	MBD4	chr6:30881744-30882884	HepG2	liver:	n/a	n/a
44	YY1	chr6:30881607-30882820	GM12878	blood:	n/a	chr6:30882642-30882654
45	POLR2A	chr6:30881641-30882883	PANC-1	pancreas:	n/a	n/a
46	POLR2A	chr6:30881359-30883343	K562	blood:	n/a	n/a
47	MTA3	chr6:30881775-30882742	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:30881859-30883001	K562	blood:	n/a	n/a
49	POLR2A	chr6:30881550-30882742	MCF-7	breast:	n/a	n/a
50	CTCF	chr6:30882700-30882850	GM12864	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30882671-30882721	HNPCEpiC	eye:	n/a
2	chr6:30882694-30882744	ovcar-3	ovarian:	n/a
3	chr6:30882671-30882721	Jurkat	blood:	n/a
4	chr6:30882694-30882744	HPAEpiC	pulmonary alveolar:	n/a
5	chr6:30882708-30882758	ovcar-3	ovarian:	n/a
6	chr6:30882671-30882721	HUVEC	blood vessel:	n/a
7	chr6:30882694-30882744	CMK	blood:	n/a
8	chr6:30882694-30882744	HRPEpiC	eye:	n/a
9	chr6:30882708-30882758	AG04450	lung:	fetal
10	chr6:30882708-30882758	HCM	heart:	n/a
11	chr6:30882671-30882721	K562	blood:	n/a
12	chr6:30882671-30882721	GM12892	blood:	n/a
13	chr6:30882708-30882758	NHBE	bronchial:	n/a
14	chr6:30882671-30882721	HIPEpiC	eye:	n/a
15	chr6:30882671-30882721	A549	lung:	n/a
16	chr6:30882694-30882744	AG09309	skin:	n/a
17	chr6:30882671-30882721	PFSK-1	brain:	n/a
18	chr6:30882708-30882758	GM19239	blood:	n/a
19	chr6:30882708-30882758	HRE	kidney:	n/a
20	chr6:30882708-30882758	RPTEC	kidney:	n/a
21	chr6:30882694-30882744	NHDF-neo	bronchial:	n/a
22	chr6:30882708-30882758	HRCEpiC	kidney:	n/a
23	chr6:30882694-30882744	RPTEC	kidney:	n/a
24	chr6:30882671-30882721	PANC-1	pancreas:	n/a
25	chr6:30882708-30882758	GM12878	blood:	n/a
26	chr6:30882694-30882744	GM12892	blood:	n/a
27	chr6:30882694-30882744	HNPCEpiC	eye:	n/a
28	chr6:30882708-30882758	T-47D	breast:	n/a
29	chr6:30882671-30882721	GM12891	blood:	n/a
30	chr6:30882671-30882721	SK-N-SH	brain:	n/a
31	chr6:30882694-30882744	HCPEpiC	choroid plexus:	n/a
32	chr6:30882708-30882758	HCPEpiC	choroid plexus:	n/a
33	chr6:30882694-30882744	BE2_C	brain:	n/a
34	chr6:30882694-30882744	NB4	blood:	n/a
35	chr6:30882708-30882758	H1-hESC	embryonic stem cell:	embryo
36	chr6:30882694-30882744	HepG2	liver:	n/a
37	chr6:30882671-30882721	HCF	heart:	n/a
38	chr6:30882708-30882758	U87	brain:	n/a
39	chr6:30882671-30882721	IMR90	lung:	fetal
40	chr6:30882708-30882758	PFSK-1	brain:	n/a
41	chr6:30882694-30882744	BJ	skin:	n/a
42	chr6:30882671-30882721	AG04449	skin:	fetal
43	chr6:30882694-30882744	GM19239	blood:	n/a
44	chr6:30882708-30882758	HRPEpiC	eye:	n/a
45	chr6:30882694-30882744	HCF	heart:	n/a
46	chr6:30882694-30882744	SAEC	small airway:	n/a
47	chr6:30882694-30882744	SK-N-MC	brain:	n/a
48	chr6:30882671-30882721	HepG2	liver:	n/a
49	chr6:30882671-30882721	HCT-116	colon:	n/a
50	chr6:30882708-30882758	HCF	heart:	n/a

(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	chr6:30682386..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	chr6:30844121..30846194-chr6:30880539..30883879,3	K562	blood:
13	chr6:30843383..30845810-chr6:30880379..30882936,3	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
VARS2	CpG island
ENSG00000204590	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000204540	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000237775	Chromatin interaction
ENSG00000264594	Chromatin interaction
ENSG00000214894	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000222895	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	chr6:30881400-30882800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:30881400-30882800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:30881400-30882800	Active TSS	Ovary	ovary
5	chr6:30881400-30883000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr6:30881400-30883600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:30881400-30884200	Active TSS	Esophagus	oesophagus
8	chr6:30881600-30882800	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr6:30881600-30882800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr6:30881600-30882800	Flanking Active TSS	Osteobl	bone
11	chr6:30881600-30883000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr6:30882000-30882800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:30882000-30882800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
14	chr6:30882200-30882800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:30882200-30882800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr6:30882200-30882800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr6:30882200-30882800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:30882200-30882800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr6:30882200-30882800	Flanking Active TSS	Fetal Brain Male	brain
20	chr6:30882200-30882800	Flanking Active TSS	HSMMtube	muscle
21	chr6:30882200-30882800	Flanking Active TSS	HUVEC	blood vessel
22	chr6:30882200-30882800	Flanking Active TSS	NH-A	brain
23	chr6:30882200-30883000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:30882200-30883000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr6:30882200-30883000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:30882200-30883000	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr6:30882200-30883000	Flanking Active TSS	Placenta	Placenta
28	chr6:30882200-30883000	Flanking Active TSS	HMEC	breast
29	chr6:30882200-30883000	Flanking Active TSS	HSMM	muscle
30	chr6:30882200-30883000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr6:30882200-30883000	Flanking Active TSS	NHLF	lung
32	chr6:30882200-30883200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr6:30882200-30883200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr6:30882200-30883200	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr6:30882200-30883200	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr6:30882200-30883200	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr6:30882200-30883200	Flanking Active TSS	Fetal Heart	heart
38	chr6:30882200-30883200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr6:30882200-30883400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr6:30882200-30883400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr6:30882200-30883400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:30882200-30883400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:30882200-30883400	Flanking Active TSS	Liver	Liver
44	chr6:30882200-30883400	Flanking Active TSS	Fetal Lung	lung
45	chr6:30882200-30883400	Flanking Active TSS	Hela-S3	cervix
46	chr6:30882200-30883600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:30882200-30883800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:30882200-30883800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr6:30882200-30883800	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr6:30882200-30884000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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