Variant report

Variant	rs180823837
Chromosome Location	chr6:37616628-37616629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr6:37616558-37616996	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr6:37616225-37616969	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr6:37616135-37616639	K562	blood:	n/a	chr6:37616596-37616605 chr6:37616536-37616546
4	MAX	chr6:37615994-37617239	ECC-1	luminal epithelium:	n/a	chr6:37616596-37616605 chr6:37616536-37616546
5	ZNF143	chr6:37616183-37617023	H1-hESC	embryonic stem cell:	n/a	chr6:37616713-37616731
6	SP4	chr6:37616135-37616993	H1-hESC	embryonic stem cell:	n/a	chr6:37616432-37616448 chr6:37616574-37616590 chr6:37616576-37616587 chr6:37616596-37616612 chr6:37616513-37616529
7	EGR1	chr6:37616379-37616828	ECC-1	luminal epithelium:	n/a	chr6:37616597-37616606 chr6:37616594-37616607 chr6:37616594-37616607 chr6:37616590-37616612 chr6:37616594-37616607 chr6:37616595-37616606 chr6:37616594-37616607 chr6:37616595-37616606 chr6:37616596-37616606 chr6:37616535-37616545 chr6:37616594-37616608 chr6:37616596-37616606 chr6:37616593-37616608
8	POLR2A	chr6:37616593-37617211	H1-hESC	embryonic stem cell:	n/a	n/a
9	USF1	chr6:37616615-37617071	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr6:37616071-37617212	ECC-1	luminal epithelium:	n/a	chr6:37616596-37616605 chr6:37616536-37616546
11	SP1	chr6:37616145-37616679	H1-hESC	embryonic stem cell:	n/a	chr6:37616516-37616526 chr6:37616535-37616547 chr6:37616599-37616609 chr6:37616434-37616446 chr6:37616435-37616445 chr6:37616573-37616587 chr6:37616435-37616444 chr6:37616515-37616527 chr6:37616535-37616547 chr6:37616434-37616446 chr6:37616576-37616588 chr6:37616537-37616546 chr6:37616577-37616586 chr6:37616578-37616587 chr6:37616515-37616527 chr6:37616536-37616546 chr6:37616516-37616526 chr6:37616576-37616588 chr6:37616576-37616587 chr6:37616532-37616546 chr6:37616436-37616445 chr6:37616578-37616587 chr6:37616536-37616545
12	TAF7	chr6:37616622-37617020	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F6	chr6:37616046-37617455	H1-hESC	embryonic stem cell:	n/a	chr6:37617045-37617057 chr6:37616581-37616591
14	CHD2	chr6:37616401-37617056	H1-hESC	embryonic stem cell:	n/a	n/a
15	EGR1	chr6:37616420-37616721	K562	blood:	n/a	chr6:37616597-37616606 chr6:37616594-37616607 chr6:37616594-37616607 chr6:37616590-37616612 chr6:37616594-37616607 chr6:37616595-37616606 chr6:37616594-37616607 chr6:37616595-37616606 chr6:37616596-37616606 chr6:37616535-37616545 chr6:37616594-37616608 chr6:37616596-37616606 chr6:37616593-37616608
16	MAX	chr6:37616095-37617257	H1-hESC	embryonic stem cell:	n/a	chr6:37616596-37616605 chr6:37616536-37616546
17	CREB1	chr6:37616137-37617097	H1-hESC	embryonic stem cell:	n/a	n/a
18	SP4	chr6:37616130-37617035	H1-hESC	embryonic stem cell:	n/a	chr6:37616432-37616448 chr6:37616574-37616590 chr6:37616576-37616587 chr6:37616596-37616612 chr6:37616513-37616529
19	USF2	chr6:37616384-37617054	H1-hESC	embryonic stem cell:	n/a	n/a
20	E2F6	chr6:37616082-37617257	H1-hESC	embryonic stem cell:	n/a	chr6:37617045-37617057 chr6:37616581-37616591
21	EGR1	chr6:37616416-37616738	K562	blood:	n/a	chr6:37616597-37616606 chr6:37616594-37616607 chr6:37616594-37616607 chr6:37616590-37616612 chr6:37616594-37616607 chr6:37616595-37616606 chr6:37616594-37616607 chr6:37616595-37616606 chr6:37616596-37616606 chr6:37616535-37616545 chr6:37616594-37616608 chr6:37616596-37616606 chr6:37616593-37616608
22	SIN3A	chr6:37616294-37616996	H1-hESC	embryonic stem cell:	n/a	n/a
23	E2F6	chr6:37616198-37616970	K562	blood:	n/a	chr6:37616581-37616591
24	ZBTB7A	chr6:37616449-37616965	ECC-1	luminal epithelium:	n/a	n/a
25	MAX	chr6:37616220-37617108	H1-hESC	embryonic stem cell:	n/a	chr6:37616596-37616605 chr6:37616536-37616546
26	TBP	chr6:37616209-37617039	H1-hESC	embryonic stem cell:	n/a	n/a
27	EGR1	chr6:37616500-37616811	ECC-1	luminal epithelium:	n/a	chr6:37616597-37616606 chr6:37616594-37616607 chr6:37616594-37616607 chr6:37616590-37616612 chr6:37616594-37616607 chr6:37616595-37616606 chr6:37616594-37616607 chr6:37616595-37616606 chr6:37616596-37616606 chr6:37616535-37616545 chr6:37616594-37616608 chr6:37616596-37616606 chr6:37616593-37616608
28	EGR1	chr6:37616350-37616821	H1-hESC	embryonic stem cell:	n/a	chr6:37616597-37616606 chr6:37616594-37616607 chr6:37616594-37616607 chr6:37616590-37616612 chr6:37616594-37616607 chr6:37616595-37616606 chr6:37616594-37616607 chr6:37616595-37616606 chr6:37616596-37616606 chr6:37616535-37616545 chr6:37616594-37616608 chr6:37616596-37616606 chr6:37616593-37616608
29	MAX	chr6:37616076-37617391	H1-hESC	embryonic stem cell:	n/a	chr6:37616596-37616605 chr6:37616536-37616546
30	ZBTB7A	chr6:37616517-37616984	ECC-1	luminal epithelium:	n/a	n/a
31	SP1	chr6:37616129-37617050	H1-hESC	embryonic stem cell:	n/a	chr6:37616731-37616743 chr6:37616516-37616526 chr6:37616733-37616742 chr6:37616535-37616547 chr6:37616599-37616609 chr6:37616434-37616446 chr6:37616435-37616445 chr6:37616573-37616587 chr6:37616435-37616444 chr6:37616515-37616527 chr6:37616535-37616547 chr6:37616434-37616446 chr6:37616576-37616588 chr6:37616537-37616546 chr6:37616577-37616586 chr6:37616578-37616587 chr6:37616718-37616728 chr6:37616515-37616527 chr6:37616536-37616546 chr6:37616516-37616526 chr6:37616576-37616588 chr6:37616576-37616587 chr6:37616718-37616728 chr6:37616532-37616546 chr6:37616436-37616445 chr6:37616578-37616587 chr6:37616536-37616545
32	YY1	chr6:37616608-37617191	H1-hESC	embryonic stem cell:	n/a	chr6:37617058-37617072

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:37616598-37616648	AG10803	skin:	n/a
2	chr6:37616598-37616648	HCPEpiC	choroid plexus:	n/a
3	chr6:37616598-37616648	NH-A	brain:	n/a
4	chr6:37616598-37616648	Hela-S3	cervix:	n/a
5	chr6:37616598-37616648	NT2-D1	testis:	n/a
6	chr6:37616598-37616648	IMR90	lung:	fetal
7	chr6:37616598-37616648	HIPEpiC	eye:	n/a
8	chr6:37616598-37616648	ovcar-3	ovarian:	n/a
9	chr6:37616598-37616648	Hepatocyte	liver:	n/a
10	chr6:37616598-37616648	GM12891	blood:	n/a
11	chr6:37616598-37616648	HMEC	breast:	n/a
12	chr6:37616598-37616648	GM19239	blood:	n/a
13	chr6:37616598-37616648	AoSMC	blood vessel:	n/a
14	chr6:37616598-37616648	HNPCEpiC	eye:	n/a
15	chr6:37616598-37616648	SAEC	small airway:	n/a
16	chr6:37616598-37616648	HAEpiC	amniotic membrane:	n/a
17	chr6:37616598-37616648	AG04450	lung:	fetal
18	chr6:37616598-37616648	NB4	blood:	n/a
19	chr6:37616598-37616648	A549	lung:	n/a
20	chr6:37616598-37616648	HepG2	liver:	n/a
21	chr6:37616598-37616648	NHBE	bronchial:	n/a
22	chr6:37616598-37616648	HPAEpiC	pulmonary alveolar:	n/a
23	chr6:37616598-37616648	NHDF-neo	bronchial:	n/a
24	chr6:37616598-37616648	Jurkat	blood:	n/a
25	chr6:37616598-37616648	SKMC	muscle:	n/a
26	chr6:37616598-37616648	Caco-2	colon:	n/a
27	chr6:37616598-37616648	H1-hESC	embryonic stem cell:	embryo
28	chr6:37616598-37616648	T-47D	breast:	n/a
29	chr6:37616598-37616648	GM12878	blood:	n/a
30	chr6:37616598-37616648	HCF	heart:	n/a
31	chr6:37616598-37616648	U87	brain:	n/a
32	chr6:37616598-37616648	HRE	kidney:	n/a
33	chr6:37616598-37616648	SK-N-SH	brain:	n/a
34	chr6:37616598-37616648	AG09319	gingival:	n/a
35	chr6:37616598-37616648	BE2_C	brain:	n/a
36	chr6:37616598-37616648	GM06990	blood:	n/a
37	chr6:37616598-37616648	SK-N-SH_RA	brain:	n/a
38	chr6:37616598-37616648	AG09309	skin:	n/a
39	chr6:37616598-37616648	K562	blood:	n/a
40	chr6:37616598-37616648	ECC-1	luminal epithelium:	n/a
41	chr6:37616598-37616648	HEK293	kidney:	embryo
42	chr6:37616598-37616648	MCF-7	breast:	n/a
43	chr6:37616598-37616648	HRPEpiC	eye:	n/a
44	chr6:37616598-37616648	HCM	heart:	n/a
45	chr6:37616598-37616648	PFSK-1	brain:	n/a
46	chr6:37616598-37616648	ProgFib	skin:	n/a
47	chr6:37616598-37616648	GM12892	blood:	n/a
48	chr6:37616598-37616648	PANC-1	pancreas:	n/a
49	chr6:37616598-37616648	AG04449	skin:	fetal
50	chr6:37616598-37616648	HRCEpiC	kidney:	n/a

Variant related genes	Relation type
MDGA1	TF binding region
MDGA1	CpG island

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv10458	chr6:37616371-37618598	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37599200-37621800	Weak transcription	NHLF	lung
2	chr6:37612600-37619800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr6:37614200-37621800	Weak transcription	Aorta	Aorta
4	chr6:37615800-37617400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:37615800-37617400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:37616000-37616800	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr6:37616000-37616800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:37616000-37616800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
9	chr6:37616000-37616800	Bivalent Enhancer	Fetal Thymus	thymus
10	chr6:37616000-37617200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr6:37616000-37617200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr6:37616000-37617200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr6:37616000-37617200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:37616000-37617200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:37616000-37617400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr6:37616000-37618000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr6:37616000-37618200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr6:37616000-37618400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr6:37616200-37616800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr6:37616200-37616800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
21	chr6:37616200-37616800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
22	chr6:37616200-37616800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:37616200-37616800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:37616200-37616800	Enhancers	Brain Substantia Nigra	brain
25	chr6:37616200-37616800	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
26	chr6:37616200-37616800	Enhancers	Fetal Heart	heart
27	chr6:37616200-37616800	Bivalent Enhancer	Fetal Intestine Large	intestine
28	chr6:37616200-37616800	Bivalent Enhancer	Placenta	Placenta
29	chr6:37616200-37616800	Bivalent Enhancer	Fetal Stomach	stomach
30	chr6:37616200-37616800	Bivalent Enhancer	Stomach Mucosa	stomach
31	chr6:37616200-37616800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
32	chr6:37616200-37616800	Bivalent Enhancer	NHEK	skin
33	chr6:37616200-37617000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
34	chr6:37616200-37617000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr6:37616200-37617200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:37616200-37617200	Bivalent Enhancer	Primary B cells from cord blood	blood
37	chr6:37616200-37617200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
38	chr6:37616200-37617200	Bivalent/Poised TSS	Fetal Brain Female	brain
39	chr6:37616200-37617200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr6:37616200-37617200	Bivalent Enhancer	Lung	lung
41	chr6:37616200-37617400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr6:37616200-37617400	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr6:37616200-37618200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
44	chr6:37616200-37618200	Enhancers	Pancreas	Pancrea
45	chr6:37616400-37616800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:37616400-37616800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
47	chr6:37616400-37616800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:37616400-37616800	Bivalent Enhancer	Liver	Liver
49	chr6:37616400-37616800	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr6:37616400-37616800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links