Variant report

Variant	rs73023503
Chromosome Location	chr1:170115088-170115089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:170115014-170115112	MCF-7	breast:	n/a	n/a
2	RXRA	chr1:170114898-170115456	H1-hESC	embryonic stem cell:	n/a	n/a
3	KAP1	chr1:170114801-170115621	U2OS	brain:	n/a	chr1:170115175-170115183
4	KAP1	chr1:170114760-170116217	HEK293	kidney:	n/a	chr1:170115175-170115183
5	HDAC2	chr1:170114924-170115476	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr1:170114952-170115522	H1-hESC	embryonic stem cell:	n/a	n/a
7	SP1	chr1:170114890-170115544	H1-hESC	embryonic stem cell:	n/a	chr1:170115087-170115101 chr1:170115097-170115107
8	RXRA	chr1:170115011-170115487	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr1:170115007-170115530	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTBP2	chr1:170114918-170115386	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr1:170114994-170115468	H1-hESC	embryonic stem cell:	n/a	n/a
12	CREB1	chr1:170114999-170115606	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr1:170114900-170115461	H1-hESC	embryonic stem cell:	n/a	n/a
14	TCF12	chr1:170115078-170115429	H1-hESC	embryonic stem cell:	n/a	n/a
15	SP1	chr1:170114964-170115482	H1-hESC	embryonic stem cell:	n/a	chr1:170115087-170115101 chr1:170115097-170115107
16	REST	chr1:170114640-170115646	H1-neurons	neurons:	n/a	chr1:170115084-170115097
17	TCF7L2	chr1:170114729-170116321	HEK293	kidney:	n/a	chr1:170116141-170116157
18	NANOG	chr1:170114945-170115475	H1-hESC	embryonic stem cell:	n/a	n/a
19	YY1	chr1:170114820-170115500	H1-hESC	embryonic stem cell:	n/a	n/a
20	REST	chr1:170114223-170116039	H1-neurons	neurons:	n/a	chr1:170115084-170115097
21	POLR2A	chr1:170114481-170115609	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr1:170114816-170115603	H1-neurons	neurons:	n/a	n/a
23	EP300	chr1:170114966-170115513	H1-hESC	embryonic stem cell:	n/a	n/a
24	NANOG	chr1:170115061-170115470	H1-hESC	embryonic stem cell:	n/a	n/a
25	SP4	chr1:170115042-170115433	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:170115042-170115092	MCF-7	breast:	n/a
2	chr1:170115042-170115092	ECC-1	luminal epithelium:	n/a
3	chr1:170115042-170115092	HUVEC	blood vessel:	n/a
4	chr1:170115042-170115092	HRPEpiC	eye:	n/a
5	chr1:170115042-170115092	SK-N-SH	brain:	n/a
6	chr1:170115042-170115092	A549	lung:	n/a
7	chr1:170115042-170115092	AG10803	skin:	n/a
8	chr1:170115042-170115092	HMEC	breast:	n/a
9	chr1:170115042-170115092	SAEC	small airway:	n/a
10	chr1:170115042-170115092	BE2_C	brain:	n/a
11	chr1:170115042-170115092	HNPCEpiC	eye:	n/a
12	chr1:170115042-170115092	HL-60	blood:	n/a
13	chr1:170115042-170115092	GM12878	blood:	n/a
14	chr1:170115042-170115092	NT2-D1	testis:	n/a
15	chr1:170115042-170115092	SK-N-SH_RA	brain:	n/a
16	chr1:170115042-170115092	HEK293	kidney:	embryo
17	chr1:170115042-170115092	HRCEpiC	kidney:	n/a
18	chr1:170115042-170115092	AoSMC	blood vessel:	n/a
19	chr1:170115042-170115092	T-47D	breast:	n/a
20	chr1:170115042-170115092	NH-A	brain:	n/a
21	chr1:170115042-170115092	NHBE	bronchial:	n/a
22	chr1:170115042-170115092	CMK	blood:	n/a
23	chr1:170115042-170115092	AG09309	skin:	n/a
24	chr1:170115042-170115092	PANC-1	pancreas:	n/a
25	chr1:170115042-170115092	AG04449	skin:	fetal
26	chr1:170115042-170115092	H1-hESC	embryonic stem cell:	embryo
27	chr1:170115042-170115092	HRE	kidney:	n/a
28	chr1:170115042-170115092	MCF10A-Er-Src	breast:	n/a
29	chr1:170115042-170115092	GM12891	blood:	n/a
30	chr1:170115042-170115092	BJ	skin:	n/a
31	chr1:170115042-170115092	SK-N-MC	brain:	n/a
32	chr1:170115042-170115092	NHDF-neo	bronchial:	n/a
33	chr1:170115042-170115092	HAEpiC	amniotic membrane:	n/a
34	chr1:170115042-170115092	PrEC	prostate:	n/a
35	chr1:170115042-170115092	PFSK-1	brain:	n/a
36	chr1:170115042-170115092	GM19239	blood:	n/a
37	chr1:170115042-170115092	GM12892	blood:	n/a
38	chr1:170115042-170115092	HCT-116	colon:	n/a
39	chr1:170115042-170115092	HIPEpiC	eye:	n/a
40	chr1:170115042-170115092	HCPEpiC	choroid plexus:	n/a
41	chr1:170115042-170115092	K562	blood:	n/a
42	chr1:170115042-170115092	LNCaP	prostate:	n/a
43	chr1:170115042-170115092	Hela-S3	cervix:	n/a
44	chr1:170115042-170115092	ovcar-3	ovarian:	n/a
45	chr1:170115042-170115092	AG04450	lung:	fetal
46	chr1:170115042-170115092	Caco-2	colon:	n/a
47	chr1:170115042-170115092	HCF	heart:	n/a
48	chr1:170115042-170115092	ProgFib	skin:	n/a
49	chr1:170115042-170115092	HEEpiC	esophagus:	n/a
50	chr1:170115042-170115092	HPAEpiC	pulmonary alveolar:	n/a

No data

Variant related genes	Relation type
METTL11B	TF binding region
METTL11B	CpG island

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11526503	1.00[EUR][1000 genomes]
rs12031030	1.00[EUR][1000 genomes]
rs12032699	1.00[EUR][1000 genomes]
rs12036604	1.00[EUR][1000 genomes]
rs12038006	1.00[EUR][1000 genomes]
rs1330369	1.00[EUR][1000 genomes]
rs16862963	1.00[EUR][1000 genomes]
rs16862985	1.00[EUR][1000 genomes]
rs56694179	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56919297	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58179539	1.00[EUR][1000 genomes]
rs61631513	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61745741	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686398	1.00[EUR][1000 genomes]
rs73023515	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73023591	1.00[EUR][1000 genomes]
rs73041152	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73041162	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74122307	1.00[EUR][1000 genomes]
rs74122310	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv999310	chr1:170065943-170223350	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170114200-170115200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
2	chr1:170114200-170115800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:170114200-170116200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:170114200-170116800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:170114200-170117000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:170114400-170115600	Enhancers	Fetal Brain Male	brain
7	chr1:170114600-170116800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:170114600-170117000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:170114800-170115200	Enhancers	Fetal Muscle Leg	muscle
10	chr1:170114800-170115200	Enhancers	Pancreas	Pancrea
11	chr1:170114800-170115400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:170114800-170115400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:170114800-170115400	Active TSS	Right Ventricle	heart
14	chr1:170114800-170115600	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr1:170114800-170116200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:170114800-170116200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr1:170114800-170116400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:170114800-170116400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:170114800-170116800	Enhancers	Primary T cells from cord blood	blood
20	chr1:170115000-170115400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
21	chr1:170115000-170115400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
22	chr1:170115000-170115400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:170115000-170115600	Enhancers	Fetal Brain Female	brain
24	chr1:170115000-170115800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:170115000-170115800	Active TSS	Fetal Heart	heart
26	chr1:170115000-170115800	Enhancers	Thymus	Thymus
27	chr1:170115000-170116000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:170115000-170116200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:170115000-170116400	Active TSS	Right Atrium	heart
30	chr1:170115000-170116600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:170115000-170116600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr1:170115000-170116800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:170115000-170116800	Flanking Active TSS	Dnd41	blood

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