Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:63329161..63330688-chr12:63333077..63335873,2	K562	blood:
2	chr12:63331390..63333086-chr12:63334600..63336280,2	MCF-7	breast:
3	chr12:63324965..63327426-chr12:63334327..63336212,2	K562	blood:
4	chr12:63328186..63331281-chr12:63335640..63338582,3	MCF-7	breast:
5	chr12:63328135..63331466-chr12:63332214..63336504,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111110	Chromatin interaction
ENSG00000252660	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11174723	1.00[ASN][1000 genomes]
rs11174731	0.95[ASN][1000 genomes]
rs12301080	0.96[ASN][1000 genomes]
rs12302398	1.00[ASN][1000 genomes]
rs12302449	1.00[ASN][1000 genomes]
rs12304611	0.96[ASN][1000 genomes]
rs12311870	0.98[ASN][1000 genomes]
rs12314057	0.94[ASN][1000 genomes]
rs12315582	0.96[ASN][1000 genomes]
rs12316918	0.92[ASN][1000 genomes]
rs1250152	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1666909	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1681992	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1681993	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1681994	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1695023	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17098649	0.96[ASN][1000 genomes]
rs1731665	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2173441	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2442110	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2628036	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3858674	0.98[ASN][1000 genomes]
rs3858675	0.98[ASN][1000 genomes]
rs7314488	0.98[ASN][1000 genomes]
rs7314892	0.98[ASN][1000 genomes]
rs7315141	0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63329600-63338600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:63330200-63336000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:63330200-63336200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:63330800-63336200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:63335200-63336800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr12:63335400-63336000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:63335400-63336000	Weak transcription	Brain Anterior Caudate	brain
8	chr12:63335400-63336800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:63335400-63337000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:63335400-63338600	Weak transcription	Brain Substantia Nigra	brain
11	chr12:63335600-63336000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:63335600-63336200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

Quick Search: