Variant report

Variant	rs2766466
Chromosome Location	chr14:70193062-70193063
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	RAD21	chr14:70192864-70194619	SK-N-SH	brain:	n/a	chr14:70193871-70193884 chr14:70193842-70193861 chr14:70192916-70192928
2	CHD1	chr14:70192928-70194254	IMR90	lung:	n/a	n/a
3	SMC3	chr14:70192936-70194625	SK-N-SH	brain:	n/a	chr14:70193846-70193860

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70078354..70079913-chr14:70192981..70195416,2	K562	blood:

Variant related genes	Relation type
SRSF5	TF binding region
ENSG00000100647	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	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1275746	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1275817	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1275823	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1290041	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295826	0.83[ASN][1000 genomes]
rs1295827	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107161	0.83[ASN][1000 genomes]
rs1743379	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1999722	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2210803	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2766462	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2783515	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34686932	0.83[ASN][1000 genomes]
rs4902745	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60716885	0.83[ASN][1000 genomes]
rs61980729	0.83[ASN][1000 genomes]
rs61980730	0.83[ASN][1000 genomes]
rs6573900	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	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs945310	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:47 , 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	chr14:70186600-70193400	Weak transcription	Ovary	ovary
9	chr14:70186800-70193400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:70186800-70193400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:70186800-70193400	Weak transcription	Psoas Muscle	Psoas
12	chr14:70186800-70193400	Weak transcription	HSMM	muscle
13	chr14:70187000-70193400	Weak transcription	HSMMtube	muscle
14	chr14:70187200-70193400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:70187200-70193400	Weak transcription	HUVEC	blood vessel
16	chr14:70187400-70193400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:70187600-70193400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:70187600-70193400	Weak transcription	HMEC	breast
19	chr14:70188000-70193200	Weak transcription	Lung	lung
20	chr14:70188000-70193400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:70188000-70193400	Weak transcription	Right Atrium	heart
22	chr14:70188000-70193400	Weak transcription	Right Ventricle	heart
23	chr14:70188400-70193200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:70190000-70193400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr14:70191600-70193600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr14:70191800-70193200	Enhancers	Brain Anterior Caudate	brain
27	chr14:70192000-70193400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:70192000-70193400	Enhancers	Brain Hippocampus Middle	brain
29	chr14:70192400-70193200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr14:70192400-70193400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:70192400-70193400	Enhancers	Adipose Nuclei	Adipose
32	chr14:70192400-70193400	Enhancers	HepG2	liver
33	chr14:70192400-70193600	Enhancers	Spleen	Spleen
34	chr14:70192400-70195400	Enhancers	Fetal Muscle Leg	muscle
35	chr14:70192600-70193200	Weak transcription	K562	blood
36	chr14:70192600-70193400	Enhancers	Duodenum Mucosa	Duodenum
37	chr14:70192600-70193600	Enhancers	Placenta	Placenta
38	chr14:70192800-70193200	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr14:70192800-70193400	Enhancers	Left Ventricle	heart
40	chr14:70192800-70193600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:70192800-70194200	Enhancers	Primary hematopoietic stem cells	blood
42	chr14:70193000-70193400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:70193000-70193400	Enhancers	Brain Substantia Nigra	brain
44	chr14:70193000-70193400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr14:70193000-70193400	Enhancers	GM12878-XiMat	blood
46	chr14:70193000-70193600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr14:70193000-70194200	Enhancers	Cortex derived primary cultured neurospheres	brain

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