Variant report

Variant	rs804815
Chromosome Location	chr6:37617892-37617893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:118)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:118 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:37617706-37618136	K562	blood:	n/a	n/a
2	CTCF	chr6:37617840-37617990	SAEC	small airway:	n/a	n/a
3	CTCF	chr6:37617880-37618030	GM12872	blood:	n/a	n/a
4	CTCF	chr6:37617800-37617950	GM12869	blood:	n/a	n/a
5	CTCF	chr6:37617817-37617996	GM13977	blood:	n/a	n/a
6	CTCF	chr6:37617860-37618010	GM12870	blood:	n/a	n/a
7	CTCF	chr6:37617820-37617970	GM12870	blood:	n/a	n/a
8	CTCF	chr6:37617775-37618034	HepG2	liver:	n/a	n/a
9	CTCF	chr6:37617800-37617950	GM12875	blood:	n/a	n/a
10	CTCF	chr6:37617760-37617910	GM12868	blood:	n/a	n/a
11	CTCF	chr6:37617780-37617930	GM12874	blood:	n/a	n/a
12	CTCF	chr6:37617800-37617950	HRE	kidney:	n/a	n/a
13	POLR2A	chr6:37617878-37617929	H1-hESC	embryonic stem cell:	n/a	n/a
14	E2F6	chr6:37617818-37618029	K562	blood:	n/a	n/a
15	CTCF	chr6:37617780-37617930	GM06990	blood:	n/a	n/a
16	CTCF	chr6:37617820-37617970	GM12867	blood:	n/a	n/a
17	CTCF	chr6:37617725-37618029	K562	blood:	n/a	n/a
18	RAD21	chr6:37617783-37618093	HepG2	liver:	n/a	n/a
19	CTCF	chr6:37617733-37618114	HepG2	liver:	n/a	n/a
20	CTCF	chr6:37617820-37617970	HPF	lung:	n/a	n/a
21	CTCF	chr6:37617840-37617990	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr6:37617780-37617930	HPF	lung:	n/a	n/a
23	CTCF	chr6:37617860-37618010	HepG2	liver:	n/a	n/a
24	CTCF	chr6:37617820-37617970	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr6:37617840-37617990	GM12872	blood:	n/a	n/a
26	CTCF	chr6:37617860-37618010	K562	blood:	n/a	n/a
27	GTF2F1	chr6:37617799-37618039	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr6:37617796-37618023	GM12878	blood:	n/a	n/a
29	RCOR1	chr6:37617846-37617974	HepG2	liver:	n/a	n/a
30	CTCF	chr6:37617804-37618034	K562	blood:	n/a	n/a
31	ZNF143	chr6:37617837-37618023	GM12878	blood:	n/a	n/a
32	CTCF	chr6:37617798-37618018	GM19240	blood:	n/a	n/a
33	CTCF	chr6:37617828-37618000	GM10266	blood:	n/a	n/a
34	MAX	chr6:37617618-37618377	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr6:37617860-37618010	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr6:37617840-37617990	GM12866	blood:	n/a	n/a
37	RAD21	chr6:37617856-37617966	K562	blood:	n/a	n/a
38	RAD21	chr6:37617839-37618049	K562	blood:	n/a	n/a
39	CTCF	chr6:37617856-37617977	Lung_OC	lung:	n/a	n/a
40	CTCF	chr6:37617860-37618010	HRE	kidney:	n/a	n/a
41	CTCF	chr6:37617860-37617981	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chr6:37617880-37618030	GM12864	blood:	n/a	n/a
43	ZNF143	chr6:37617702-37618322	H1-hESC	embryonic stem cell:	n/a	n/a
44	TCF12	chr6:37617806-37618031	H1-hESC	embryonic stem cell:	n/a	n/a
45	GABPA	chr6:37617791-37618052	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr6:37617800-37617950	GM12871	blood:	n/a	n/a
47	CTCF	chr6:37617766-37618059	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr6:37617726-37618418	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr6:37617829-37617993	GM12892	blood:	n/a	n/a
50	CTCF	chr6:37617820-37617970	GM12872	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:37617864-37617914	AoSMC	blood vessel:	n/a
2	chr6:37617864-37617914	K562	blood:	n/a
3	chr6:37617864-37617914	PrEC	prostate:	n/a
4	chr6:37617864-37617914	HCT-116	colon:	n/a
5	chr6:37617864-37617914	IMR90	lung:	fetal
6	chr6:37617864-37617914	GM12878	blood:	n/a
7	chr6:37617864-37617914	NB4	blood:	n/a
8	chr6:37617864-37617914	SK-N-MC	brain:	n/a
9	chr6:37617864-37617914	NT2-D1	testis:	n/a
10	chr6:37617864-37617914	AG09319	gingival:	n/a
11	chr6:37617864-37617914	GM12891	blood:	n/a
12	chr6:37617864-37617914	HUVEC	blood vessel:	n/a
13	chr6:37617864-37617914	SKMC	muscle:	n/a
14	chr6:37617864-37617914	LNCaP	prostate:	n/a
15	chr6:37617864-37617914	MCF-7	breast:	n/a
16	chr6:37617864-37617914	AG10803	skin:	n/a
17	chr6:37617864-37617914	ECC-1	luminal epithelium:	n/a
18	chr6:37617864-37617914	HNPCEpiC	eye:	n/a
19	chr6:37617864-37617914	NH-A	brain:	n/a
20	chr6:37617864-37617914	HIPEpiC	eye:	n/a
21	chr6:37617864-37617914	RPTEC	kidney:	n/a
22	chr6:37617864-37617914	AG04449	skin:	fetal
23	chr6:37617864-37617914	GM06990	blood:	n/a
24	chr6:37617864-37617914	HCM	heart:	n/a
25	chr6:37617864-37617914	HEK293	kidney:	embryo
26	chr6:37617864-37617914	A549	lung:	n/a
27	chr6:37617864-37617914	U87	brain:	n/a
28	chr6:37617864-37617914	NHBE	bronchial:	n/a
29	chr6:37617864-37617914	Hepatocyte	liver:	n/a
30	chr6:37617864-37617914	HPAEpiC	pulmonary alveolar:	n/a
31	chr6:37617864-37617914	HAEpiC	amniotic membrane:	n/a
32	chr6:37617864-37617914	HRCEpiC	kidney:	n/a
33	chr6:37617864-37617914	NHDF-neo	bronchial:	n/a
34	chr6:37617864-37617914	GM12892	blood:	n/a
35	chr6:37617864-37617914	AG04450	lung:	fetal
36	chr6:37617864-37617914	HRE	kidney:	n/a
37	chr6:37617864-37617914	Hela-S3	cervix:	n/a
38	chr6:37617864-37617914	HCPEpiC	choroid plexus:	n/a
39	chr6:37617864-37617914	MCF10A-Er-Src	breast:	n/a
40	chr6:37617864-37617914	Caco-2	colon:	n/a
41	chr6:37617864-37617914	SAEC	small airway:	n/a
42	chr6:37617864-37617914	HCF	heart:	n/a
43	chr6:37617864-37617914	T-47D	breast:	n/a
44	chr6:37617864-37617914	HRPEpiC	eye:	n/a
45	chr6:37617864-37617914	HepG2	liver:	n/a
46	chr6:37617864-37617914	PFSK-1	brain:	n/a
47	chr6:37617864-37617914	PANC-1	pancreas:	n/a
48	chr6:37617864-37617914	BJ	skin:	n/a
49	chr6:37617864-37617914	HEEpiC	esophagus:	n/a
50	chr6:37617864-37617914	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37617185..37618953-chr6:37619629..37621239,2	K562	blood:

No data

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

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2797783	1.00[EUR][1000 genomes]
rs73413369	1.00[EUR][1000 genomes]
rs73415463	1.00[EUR][1000 genomes]
rs73730806	1.00[EUR][1000 genomes]
rs7767232	1.00[EUR][1000 genomes]
rs804818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9462348	1.00[EUR][1000 genomes]
rs9462351	1.00[EUR][1000 genomes]
rs9470658	1.00[EUR][1000 genomes]
rs9470659	1.00[EUR][1000 genomes]

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:39 , 50 per page) page: 1

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	chr6:37616000-37618000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr6:37616000-37618200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:37616000-37618400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:37616200-37618200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:37616200-37618200	Enhancers	Pancreas	Pancrea
9	chr6:37616400-37618000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
10	chr6:37616400-37618200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:37616400-37618200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr6:37616800-37619600	Weak transcription	Brain Substantia Nigra	brain
13	chr6:37617000-37618000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:37617000-37618400	Bivalent Enhancer	Fetal Brain Male	brain
15	chr6:37617000-37620200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:37617200-37619600	Weak transcription	Brain Anterior Caudate	brain
17	chr6:37617200-37619600	Weak transcription	Ovary	ovary
18	chr6:37617200-37619600	Weak transcription	Right Atrium	heart
19	chr6:37617200-37621600	Weak transcription	Esophagus	oesophagus
20	chr6:37617200-37622400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:37617400-37618800	Bivalent Enhancer	Fetal Heart	heart
22	chr6:37617600-37618000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:37617600-37618000	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr6:37617600-37618000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
25	chr6:37617600-37618200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:37617600-37618200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:37617600-37618200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:37617600-37618200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr6:37617600-37618200	Bivalent Enhancer	Placenta	Placenta
30	chr6:37617600-37618200	Bivalent Enhancer	Right Ventricle	heart
31	chr6:37617800-37618000	Enhancers	Liver	Liver
32	chr6:37617800-37618000	Bivalent Enhancer	Left Ventricle	heart
33	chr6:37617800-37618200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr6:37617800-37618200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr6:37617800-37618200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:37617800-37618200	Genic enhancers	Gastric	stomach
37	chr6:37617800-37618400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
38	chr6:37617800-37618400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr6:37617800-37618400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell

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