Variant report

Variant	rs235920
Chromosome Location	chr1:171621975-171621976
allele	C/T
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:0)
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	USF1	chr1:171621754-171622024	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:171621941-171621991	Hepatocyte	liver:	n/a
2	chr1:171621941-171621991	NHDF-neo	bronchial:	n/a
3	chr1:171621941-171621991	PFSK-1	brain:	n/a
4	chr1:171621941-171621991	HEEpiC	esophagus:	n/a
5	chr1:171621941-171621991	HRPEpiC	eye:	n/a
6	chr1:171621941-171621991	T-47D	breast:	n/a
7	chr1:171621941-171621991	CMK	blood:	n/a
8	chr1:171621941-171621991	PANC-1	pancreas:	n/a
9	chr1:171621941-171621991	GM12892	blood:	n/a
10	chr1:171621941-171621991	HCPEpiC	choroid plexus:	n/a
11	chr1:171621941-171621991	HL-60	blood:	n/a
12	chr1:171621941-171621991	ProgFib	skin:	n/a
13	chr1:171621941-171621991	HepG2	liver:	n/a
14	chr1:171621941-171621991	MCF10A-Er-Src	breast:	n/a
15	chr1:171621941-171621991	SKMC	muscle:	n/a
16	chr1:171621941-171621991	IMR90	lung:	fetal
17	chr1:171621941-171621991	A549	lung:	n/a
18	chr1:171621941-171621991	NT2-D1	testis:	n/a
19	chr1:171621941-171621991	NHBE	bronchial:	n/a
20	chr1:171621941-171621991	ovcar-3	ovarian:	n/a
21	chr1:171621941-171621991	HCF	heart:	n/a
22	chr1:171621941-171621991	Caco-2	colon:	n/a
23	chr1:171621941-171621991	SK-N-SH	brain:	n/a
24	chr1:171621941-171621991	K562	blood:	n/a
25	chr1:171621941-171621991	SAEC	small airway:	n/a
26	chr1:171621941-171621991	AG09319	gingival:	n/a
27	chr1:171621941-171621991	HAEpiC	amniotic membrane:	n/a
28	chr1:171621941-171621991	SK-N-SH_RA	brain:	n/a
29	chr1:171621941-171621991	H1-hESC	embryonic stem cell:	embryo
30	chr1:171621941-171621991	HCM	heart:	n/a
31	chr1:171621941-171621991	SK-N-MC	brain:	n/a
32	chr1:171621941-171621991	U87	brain:	n/a
33	chr1:171621941-171621991	MCF-7	breast:	n/a
34	chr1:171621941-171621991	NB4	blood:	n/a
35	chr1:171621941-171621991	GM19239	blood:	n/a
36	chr1:171621941-171621991	HRE	kidney:	n/a
37	chr1:171621941-171621991	AG10803	skin:	n/a
38	chr1:171621941-171621991	HUVEC	blood vessel:	n/a
39	chr1:171621941-171621991	AG09309	skin:	n/a
40	chr1:171621941-171621991	HNPCEpiC	eye:	n/a
41	chr1:171621941-171621991	HIPEpiC	eye:	n/a
42	chr1:171621941-171621991	GM12878	blood:	n/a
43	chr1:171621941-171621991	HPAEpiC	pulmonary alveolar:	n/a
44	chr1:171621941-171621991	ECC-1	luminal epithelium:	n/a
45	chr1:171621941-171621991	BJ	skin:	n/a
46	chr1:171621941-171621991	GM12891	blood:	n/a
47	chr1:171621941-171621991	RPTEC	kidney:	n/a
48	chr1:171621941-171621991	HEK293	kidney:	embryo
49	chr1:171621941-171621991	HCT-116	colon:	n/a
50	chr1:171621941-171621991	AG04449	skin:	fetal

No data

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

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs183532	0.89[YRI][hapmap]
rs235869	0.86[YRI][hapmap]
rs235870	0.86[YRI][hapmap]
rs604864	0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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 target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv872544	chr1:171616822-171654968	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs235920	C1orf9	cis	parietal	SCAN
rs235920	METTL13	cis	cerebellum	SCAN
rs235920	DNM3	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171614600-171624600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:171615200-171623600	Weak transcription	Right Atrium	heart
3	chr1:171615400-171622800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:171615400-171623000	Weak transcription	HSMM	muscle
5	chr1:171620000-171623400	Enhancers	Fetal Heart	heart
6	chr1:171620400-171627600	Enhancers	Fetal Muscle Leg	muscle
7	chr1:171620800-171622600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:171621000-171622400	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr1:171621000-171624800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr1:171621000-171625800	Enhancers	Fetal Stomach	stomach
11	chr1:171621200-171622400	Enhancers	Psoas Muscle	Psoas
12	chr1:171621400-171622000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr1:171621400-171622000	Enhancers	Placenta	Placenta
14	chr1:171621400-171622400	Enhancers	Right Ventricle	heart
15	chr1:171621400-171623400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:171621400-171623600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:171621400-171624200	Enhancers	Colon Smooth Muscle	Colon
18	chr1:171621400-171624600	Enhancers	Rectal Smooth Muscle	rectum
19	chr1:171621600-171622400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr1:171621600-171623000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:171621600-171623200	Weak transcription	Adipose Nuclei	Adipose
22	chr1:171621600-171623200	Enhancers	Liver	Liver
23	chr1:171621600-171623600	Weak transcription	Left Ventricle	heart
24	chr1:171621800-171622200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:171621800-171623600	Weak transcription	Colonic Mucosa	Colon
26	chr1:171621800-171623600	Weak transcription	Ovary	ovary
27	chr1:171621800-171624000	Weak transcription	Aorta	Aorta
28	chr1:171621800-171624000	Weak transcription	Lung	lung

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