Variant report

Variant	rs2766462
Chromosome Location	chr14:70189126-70189127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70187141..70189725-chr14:70237389..70239398,2	K562	blood:
2	chr14:70181314..70183326-chr14:70188869..70190637,2	K562	blood:
3	chr14:70183599..70186731-chr14:70186733..70189536,3	K562	blood:

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10149246	0.83[EUR][1000 genomes]
rs1275745	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1275746	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1275817	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1275823	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1290041	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295826	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1295827	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107161	0.83[ASN][1000 genomes]
rs1743379	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1999722	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2210803	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2766466	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2783515	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34686932	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4902745	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60716885	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs61980729	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs61980730	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6573900	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7157093	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs945308	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs945309	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs945310	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs945312	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70180400-70193400	Weak transcription	Pancreas	Pancrea
2	chr14:70181400-70193600	Weak transcription	Primary T cells from cord blood	blood
3	chr14:70181600-70193400	Weak transcription	Thymus	Thymus
4	chr14:70182000-70193200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr14:70183000-70193400	Weak transcription	Fetal Intestine Small	intestine
6	chr14:70183800-70193400	Weak transcription	Colonic Mucosa	Colon
7	chr14:70183800-70193400	Weak transcription	Small Intestine	intestine
8	chr14:70184000-70192800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:70184000-70193000	Weak transcription	Brain Substantia Nigra	brain
10	chr14:70186400-70191800	Weak transcription	Brain Anterior Caudate	brain
11	chr14:70186600-70193400	Weak transcription	Ovary	ovary
12	chr14:70186800-70192400	Weak transcription	Spleen	Spleen
13	chr14:70186800-70192800	Weak transcription	Left Ventricle	heart
14	chr14:70186800-70193000	Weak transcription	GM12878-XiMat	blood
15	chr14:70186800-70193400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:70186800-70193400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:70186800-70193400	Weak transcription	Psoas Muscle	Psoas
18	chr14:70186800-70193400	Weak transcription	HSMM	muscle
19	chr14:70187000-70189200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr14:70187000-70191600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr14:70187000-70191600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr14:70187000-70192400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:70187000-70193400	Weak transcription	HSMMtube	muscle
24	chr14:70187200-70192400	Weak transcription	Adipose Nuclei	Adipose
25	chr14:70187200-70192400	Weak transcription	HepG2	liver
26	chr14:70187200-70193400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:70187200-70193400	Weak transcription	HUVEC	blood vessel
28	chr14:70187400-70193400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:70187600-70193400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:70187600-70193400	Weak transcription	HMEC	breast
31	chr14:70187800-70192000	Weak transcription	Brain Hippocampus Middle	brain
32	chr14:70188000-70192400	Weak transcription	Fetal Muscle Leg	muscle
33	chr14:70188000-70193200	Weak transcription	Lung	lung
34	chr14:70188000-70193400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:70188000-70193400	Weak transcription	Right Atrium	heart
36	chr14:70188000-70193400	Weak transcription	Right Ventricle	heart
37	chr14:70188400-70193200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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