Variant report

Variant	rs12621237
Chromosome Location	chr2:10957538-10957539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:10957400-10957550	WI-38	lung:	n/a	n/a
2	CTCF	chr2:10957521-10957906	H1-hESC	embryonic stem cell:	n/a	chr2:10957786-10957795 chr2:10957702-10957711
3	CTCF	chr2:10957295-10958035	SK-N-SH	brain:	n/a	chr2:10957786-10957795 chr2:10957702-10957711
4	CTCF	chr2:10957520-10957670	HAc	cerebellar:	n/a	n/a
5	CTCF	chr2:10957326-10957913	A549	lung:	n/a	chr2:10957786-10957795 chr2:10957702-10957711
6	RAD21	chr2:10957515-10957840	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr2:10957400-10957550	AG09319	gingival:	n/a	n/a
8	CTCF	chr2:10957500-10957650	A549	lung:	n/a	n/a
9	CTCF	chr2:10957460-10957610	HFF	foreskin:	n/a	n/a
10	CTCF	chr2:10957509-10957906	MCF-7	breast:	n/a	chr2:10957786-10957795 chr2:10957702-10957711
11	CTCF	chr2:10957505-10957793	HepG2	liver:	n/a	chr2:10957702-10957711
12	CTCF	chr2:10957520-10957670	WI-38	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10951755..10953479-chr2:10956167..10958157,2	K562	blood:

Variant related genes	Relation type
RNU7-176P	TF binding region
PDIA6	TF binding region
ENSG00000143870	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10192112	0.83[AFR][1000 genomes]
rs10197595	0.84[AFR][1000 genomes]
rs10200007	0.84[AFR][1000 genomes]
rs12463454	0.91[ASN][1000 genomes]
rs12471725	0.91[ASN][1000 genomes]
rs12471762	0.91[ASN][1000 genomes]
rs12472302	0.81[ASN][1000 genomes]
rs12474895	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475790	0.91[ASN][1000 genomes]
rs12623588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13404780	0.84[AFR][1000 genomes]
rs13429247	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13431633	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13431852	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13432104	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17365181	0.81[ASN][1000 genomes]
rs17365209	0.81[ASN][1000 genomes]
rs17365216	0.81[ASN][1000 genomes]
rs17456162	0.81[ASN][1000 genomes]
rs17456225	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2306922	0.81[ASN][1000 genomes]
rs2357815	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2357816	0.84[AFR][1000 genomes]
rs2884289	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3856465	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55648622	0.81[ASN][1000 genomes]
rs55688940	0.81[ASN][1000 genomes]
rs55770944	0.81[ASN][1000 genomes]
rs55771723	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55968911	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55975412	0.91[ASN][1000 genomes]
rs56025654	0.81[ASN][1000 genomes]
rs56093996	0.81[ASN][1000 genomes]
rs56121730	0.81[ASN][1000 genomes]
rs56140102	0.81[ASN][1000 genomes]
rs56141717	0.81[ASN][1000 genomes]
rs56147885	0.81[ASN][1000 genomes]
rs56162318	0.81[ASN][1000 genomes]
rs56260452	0.91[ASN][1000 genomes]
rs56263234	0.81[ASN][1000 genomes]
rs56264212	0.81[ASN][1000 genomes]
rs56268818	0.91[ASN][1000 genomes]
rs56321198	0.81[ASN][1000 genomes]
rs56344711	0.81[ASN][1000 genomes]
rs59737886	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72779425	0.81[ASN][1000 genomes]
rs72779433	0.81[ASN][1000 genomes]
rs72779445	0.91[ASN][1000 genomes]
rs72779451	0.81[ASN][1000 genomes]
rs72779452	0.81[ASN][1000 genomes]
rs72779453	0.81[ASN][1000 genomes]
rs72779459	0.81[ASN][1000 genomes]
rs72779464	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72779466	0.81[ASN][1000 genomes]
rs72779469	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72779470	0.81[ASN][1000 genomes]
rs72779474	0.81[ASN][1000 genomes]
rs72779478	0.81[ASN][1000 genomes]
rs7571007	0.81[ASN][1000 genomes]
rs7576898	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7587453	0.81[ASN][1000 genomes]
rs7590368	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10953600-10957800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:10953600-10959200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:10953600-10960800	Weak transcription	Brain Substantia Nigra	brain
4	chr2:10953600-10960800	Weak transcription	Left Ventricle	heart
5	chr2:10953600-10968200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:10953800-10960800	Weak transcription	Spleen	Spleen
7	chr2:10955000-10960600	Weak transcription	Stomach Mucosa	stomach
8	chr2:10955200-10958600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:10955400-10958800	Weak transcription	HUVEC	blood vessel
10	chr2:10955400-10968600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:10955600-10960800	Weak transcription	Adipose Nuclei	Adipose
12	chr2:10956800-10957600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:10957400-10957600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:10957400-10957600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:10957400-10957600	Flanking Bivalent TSS/Enh	HepG2	liver

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