Variant report

Variant	rs804816
Chromosome Location	chr6:37618202-37618203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr6:37618200-37618313	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr6:37618200-37618350	HRE	kidney:	n/a	n/a
3	MAX	chr6:37617618-37618377	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF143	chr6:37617702-37618322	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr6:37617726-37618418	H1-hESC	embryonic stem cell:	n/a	n/a
6	E2F6	chr6:37617686-37618404	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr6:37617716-37618364	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr6:37617789-37618235	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr6:37617721-37618456	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr6:37617520-37618319	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr6:37617683-37618262	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr6:37618109-37618347	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr6:37617655-37618328	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr6:37617772-37618357	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr6:37617720-37618278	H1-hESC	embryonic stem cell:	n/a	n/a
16	HMGN3	chr6:37617880-37618276	K562	blood:	n/a	n/a
17	RAD21	chr6:37617713-37618306	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(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

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10807186	0.96[ASN][1000 genomes]
rs13198513	0.96[ASN][1000 genomes]
rs13199974	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13203140	0.92[ASN][1000 genomes]
rs13204070	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13212859	0.96[ASN][1000 genomes]
rs1738456	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1883899	0.92[ASN][1000 genomes]
rs1883900	0.92[ASN][1000 genomes]
rs2273109	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2273110	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846873	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3846874	0.96[ASN][1000 genomes]
rs3846876	0.96[ASN][1000 genomes]
rs3846879	0.92[ASN][1000 genomes]
rs3857567	0.88[ASN][1000 genomes]
rs3857568	0.96[ASN][1000 genomes]
rs3857571	0.92[ASN][1000 genomes]
rs4236056	0.96[ASN][1000 genomes]
rs4357132	0.92[ASN][1000 genomes]
rs4711509	0.94[ASN][1000 genomes]
rs6906090	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6930085	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708020	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708021	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708022	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7452633	0.96[ASN][1000 genomes]
rs7452676	0.96[ASN][1000 genomes]
rs7452692	0.96[ASN][1000 genomes]
rs761413	0.83[ASN][1000 genomes]
rs7775837	0.96[ASN][1000 genomes]
rs804817	0.99[ASN][1000 genomes]
rs813079	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9366945	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9369015	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394447	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9462343	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:25 , 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	chr6:37616000-37618400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr6:37616800-37619600	Weak transcription	Brain Substantia Nigra	brain
6	chr6:37617000-37618400	Bivalent Enhancer	Fetal Brain Male	brain
7	chr6:37617000-37620200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:37617200-37619600	Weak transcription	Brain Anterior Caudate	brain
9	chr6:37617200-37619600	Weak transcription	Ovary	ovary
10	chr6:37617200-37619600	Weak transcription	Right Atrium	heart
11	chr6:37617200-37621600	Weak transcription	Esophagus	oesophagus
12	chr6:37617200-37622400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:37617400-37618800	Bivalent Enhancer	Fetal Heart	heart
14	chr6:37617800-37618400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr6:37617800-37618400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr6:37617800-37618400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:37618000-37618400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:37618000-37621800	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:37618200-37618400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:37618200-37618400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr6:37618200-37618400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr6:37618200-37618400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:37618200-37619600	Weak transcription	Left Ventricle	heart
24	chr6:37618200-37621800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:37618200-37631600	Weak transcription	Gastric	stomach

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