Variant report

Variant	rs12030835
Chromosome Location	chr1:59170501-59170502
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr1:59170356-59170775	H1-hESC	embryonic stem cell:	n/a	n/a
2	SP1	chr1:59170167-59170796	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr1:59170399-59170856	H1-hESC	embryonic stem cell:	n/a	n/a
4	HDAC2	chr1:59170237-59170641	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr1:59170309-59170704	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAFK	chr1:59170341-59170740	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:59169973-59170779	H1-hESC	embryonic stem cell:	n/a	n/a
8	NANOG	chr1:59170321-59170572	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr1:59170425-59170746	H1-hESC	embryonic stem cell:	n/a	n/a
10	JUND	chr1:59170334-59170615	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr1:59170374-59170646	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	chr1:59163564..59170812-chr1:59245390..59251956,13	K562	blood:

No data

Variant related genes	Relation type
MYSM1	TF binding region
ENSG00000234807	Chromatin interaction
ENSG00000177606	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10430103	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10889108	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10889109	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10889116	0.82[EUR][1000 genomes]
rs11207277	0.91[ASN][1000 genomes]
rs11207283	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11207285	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11207294	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11207295	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11207296	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12026075	0.91[ASN][1000 genomes]
rs12026540	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12036041	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12036189	0.84[ASN][1000 genomes]
rs12042828	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12043657	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12132702	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136988	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12403199	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1569705	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17372910	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1969772	0.81[EUR][1000 genomes]
rs1982874	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2172365	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2811872	0.82[EUR][1000 genomes]
rs61778512	0.88[EUR][1000 genomes]
rs6662022	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6666454	0.88[ASN][1000 genomes]
rs6667106	0.88[EUR][1000 genomes]
rs6676992	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6683627	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6701474	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7519751	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7523134	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7525365	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7527235	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59166000-59176200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:59166200-59176200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:59166400-59186200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:59168000-59171200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:59168000-59171200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr1:59168200-59171000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:59168200-59171200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:59168400-59173600	Weak transcription	Fetal Brain Male	brain
9	chr1:59168600-59171200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr1:59168600-59174200	Weak transcription	Fetal Brain Female	brain
11	chr1:59169400-59170600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:59169400-59170800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:59169400-59170800	Enhancers	HepG2	liver
14	chr1:59169600-59170600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:59169800-59171000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr1:59169800-59171000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:59170000-59170800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr1:59170200-59170800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:59170200-59171000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr1:59170200-59171000	Enhancers	K562	blood
21	chr1:59170400-59170600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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