Variant report

Variant	rs12524747
Chromosome Location	chr6:36956916-36956917
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:36956859-36956991	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:36956891-36956941	HCM	heart:	n/a
2	chr6:36956891-36956941	HPAEpiC	pulmonary alveolar:	n/a
3	chr6:36956891-36956941	GM12892	blood:	n/a
4	chr6:36956891-36956941	Jurkat	blood:	n/a
5	chr6:36956891-36956941	HCPEpiC	choroid plexus:	n/a
6	chr6:36956891-36956941	HRPEpiC	eye:	n/a
7	chr6:36956891-36956941	GM12878	blood:	n/a
8	chr6:36956891-36956941	CMK	blood:	n/a
9	chr6:36956891-36956941	BE2_C	brain:	n/a
10	chr6:36956891-36956941	RPTEC	kidney:	n/a
11	chr6:36956891-36956941	HEK293	kidney:	embryo
12	chr6:36956891-36956941	HCT-116	colon:	n/a
13	chr6:36956891-36956941	HepG2	liver:	n/a
14	chr6:36956891-36956941	HAEpiC	amniotic membrane:	n/a
15	chr6:36956891-36956941	SK-N-SH_RA	brain:	n/a
16	chr6:36956891-36956941	NH-A	brain:	n/a
17	chr6:36956891-36956941	PANC-1	pancreas:	n/a
18	chr6:36956891-36956941	MCF10A-Er-Src	breast:	n/a
19	chr6:36956891-36956941	H1-hESC	embryonic stem cell:	embryo
20	chr6:36956891-36956941	HUVEC	blood vessel:	n/a
21	chr6:36956891-36956941	AoSMC	blood vessel:	n/a
22	chr6:36956891-36956941	GM19239	blood:	n/a
23	chr6:36956891-36956941	HRE	kidney:	n/a
24	chr6:36956891-36956941	A549	lung:	n/a
25	chr6:36956891-36956941	ProgFib	skin:	n/a
26	chr6:36956891-36956941	AG04449	skin:	fetal
27	chr6:36956891-36956941	HCF	heart:	n/a
28	chr6:36956891-36956941	IMR90	lung:	fetal
29	chr6:36956891-36956941	NT2-D1	testis:	n/a
30	chr6:36956891-36956941	NHDF-neo	bronchial:	n/a
31	chr6:36956891-36956941	PFSK-1	brain:	n/a
32	chr6:36956891-36956941	MCF-7	breast:	n/a
33	chr6:36956891-36956941	AG10803	skin:	n/a
34	chr6:36956891-36956941	HL-60	blood:	n/a
35	chr6:36956891-36956941	HRCEpiC	kidney:	n/a
36	chr6:36956891-36956941	ECC-1	luminal epithelium:	n/a
37	chr6:36956891-36956941	GM06990	blood:	n/a
38	chr6:36956891-36956941	HMEC	breast:	n/a
39	chr6:36956891-36956941	ovcar-3	ovarian:	n/a
40	chr6:36956891-36956941	GM12891	blood:	n/a
41	chr6:36956891-36956941	AG09309	skin:	n/a
42	chr6:36956891-36956941	BJ	skin:	n/a
43	chr6:36956891-36956941	SK-N-MC	brain:	n/a
44	chr6:36956891-36956941	NHBE	bronchial:	n/a
45	chr6:36956891-36956941	K562	blood:	n/a
46	chr6:36956891-36956941	Caco-2	colon:	n/a
47	chr6:36956891-36956941	U87	brain:	n/a
48	chr6:36956891-36956941	PrEC	prostate:	n/a
49	chr6:36956891-36956941	Hepatocyte	liver:	n/a
50	chr6:36956891-36956941	SKMC	muscle:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36953616..36955180-chr6:36955668..36958158,2	K562	blood:
2	chr6:36852278..36855515-chr6:36952430..36957026,4	MCF-7	breast:
3	chr6:36954231..36957100-chr6:36969352..36972549,3	K562	blood:
4	chr6:36954227..36956971-chr6:36992385..36994779,2	K562	blood:

No data

Variant related genes	Relation type
MTCH1	TF binding region
MTCH1	CpG island
ENSG00000137409	Chromatin interaction
ENSG00000198663	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12524778	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12525363	0.91[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1318961	0.81[AMR][1000 genomes]
rs13217627	0.82[EUR][1000 genomes]
rs1570116	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16889364	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1753284	0.81[AMR][1000 genomes]
rs1753286	0.81[AMR][1000 genomes]
rs35466616	0.82[EUR][1000 genomes]
rs4711478	0.88[ASN][1000 genomes]
rs4714028	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4714030	0.89[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs62406531	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6915109	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6915207	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6919808	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs708013	0.82[EUR][1000 genomes]
rs7739340	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7743783	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7744277	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7762333	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs831477	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368977	0.82[EUR][1000 genomes]
rs9394393	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv885815	chr6:36915906-36979583	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv5263	chr6:36941625-36972109	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
5	nsv518386	chr6:36942746-37037670	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv602952	chr6:36951210-36978745	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36955200-36959200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:36955400-36957000	Weak transcription	Hela-S3	cervix
3	chr6:36955400-36965200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:36955400-36965400	Weak transcription	Right Atrium	heart
5	chr6:36955800-36957000	Weak transcription	K562	blood
6	chr6:36956800-36957000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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