Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42845805..42849029-chr3:42849573..42852164,3	K562	blood:

Variant related genes	Relation type
ENSG00000181061	Chromatin interaction
ENSG00000144648	Chromatin interaction

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

rs_ID	r²[population]
rs12488174	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13061576	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13064320	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13090185	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17317763	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1871121	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2372111	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs339681	0.87[EUR][1000 genomes]
rs34336220	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34648075	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34974363	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35488977	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35647815	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35766391	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4488806	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62246631	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62246641	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6765740	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6799524	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7429327	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35919797	CCDC13-AS1	cis	Thyroid	GTEx
rs35919797	CCDC13	cis	Thyroid	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42846800-42856400	Weak transcription	Right Atrium	heart
2	chr3:42847000-42851000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:42847000-42852200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:42847000-42852400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:42847200-42852000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:42847200-42852200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:42847200-42852200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:42847200-42852400	Weak transcription	Pancreas	Pancrea
9	chr3:42847200-42856400	Weak transcription	NHEK	skin
10	chr3:42847400-42852800	Weak transcription	Fetal Heart	heart
11	chr3:42847400-42852800	Weak transcription	Stomach Mucosa	stomach
12	chr3:42847400-42856200	Weak transcription	Colonic Mucosa	Colon
13	chr3:42847600-42852200	Weak transcription	K562	blood
14	chr3:42849000-42852200	Weak transcription	HepG2	liver
15	chr3:42849400-42853000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:42849800-42856400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:42850000-42850800	Enhancers	Placenta	Placenta
18	chr3:42850200-42852000	Weak transcription	Fetal Intestine Small	intestine
19	chr3:42850400-42850800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

Quick Search: