Variant report

Variant	rs1275823
Chromosome Location	chr14:70193681-70193682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70078354..70079913-chr14:70192981..70195416,2	K562	blood:
2	chr14:70193435..70195061-chr14:70232589..70234499,2	K562	blood:
3	chr14:70076119..70078735-chr14:70193171..70195049,2	MCF-7	breast:
4	chr14:70193520..70195047-chr14:70270485..70272012,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction
ENSG00000221060	Chromatin interaction
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1275745	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1275746	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1275817	0.85[ASN][1000 genomes]
rs1290041	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295826	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1295827	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107161	0.83[ASN][1000 genomes]
rs1743379	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1999722	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2210803	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2766462	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2766466	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2783515	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34686932	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4902745	0.83[ASN][1000 genomes]
rs60716885	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs61980729	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs61980730	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6573900	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7157093	0.83[ASN][1000 genomes]
rs945308	0.83[ASN][1000 genomes]
rs945309	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs945310	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs945312	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70192400-70195400	Enhancers	Fetal Muscle Leg	muscle
2	chr14:70192800-70194200	Enhancers	Primary hematopoietic stem cells	blood
3	chr14:70193000-70194200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr14:70193200-70193800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr14:70193200-70194600	Enhancers	Fetal Stomach	stomach
6	chr14:70193200-70195000	Enhancers	Lung	lung
7	chr14:70193400-70193800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:70193400-70193800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr14:70193400-70193800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:70193400-70193800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr14:70193400-70193800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:70193400-70193800	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr14:70193400-70193800	Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr14:70193400-70193800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr14:70193400-70193800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr14:70193400-70193800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:70193400-70193800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:70193400-70193800	Active TSS	Aorta	Aorta
19	chr14:70193400-70193800	Flanking Active TSS	Liver	Liver
20	chr14:70193400-70193800	Active TSS	Brain Anterior Caudate	brain
21	chr14:70193400-70193800	Active TSS	Brain Cingulate Gyrus	brain
22	chr14:70193400-70193800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:70193400-70193800	Flanking Active TSS	Colonic Mucosa	Colon
24	chr14:70193400-70193800	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr14:70193400-70193800	Active TSS	Gastric	stomach
26	chr14:70193400-70193800	Flanking Active TSS	Pancreas	Pancrea
27	chr14:70193400-70193800	Active TSS	Right Atrium	heart
28	chr14:70193400-70193800	Flanking Active TSS	Right Ventricle	heart
29	chr14:70193400-70193800	Flanking Active TSS	Thymus	Thymus
30	chr14:70193400-70193800	Flanking Active TSS	HepG2	liver
31	chr14:70193400-70193800	Flanking Active TSS	HMEC	breast
32	chr14:70193400-70193800	Flanking Active TSS	HSMM	muscle
33	chr14:70193400-70193800	Flanking Active TSS	HSMMtube	muscle
34	chr14:70193400-70193800	Flanking Active TSS	NH-A	brain
35	chr14:70193400-70193800	Active TSS	NHLF	lung
36	chr14:70193400-70194000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:70193400-70194000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
38	chr14:70193400-70194000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:70193400-70194000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:70193400-70194000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr14:70193400-70194000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:70193400-70194000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:70193400-70194000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:70193400-70194000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:70193400-70194000	Active TSS	Brain Angular Gyrus	brain
46	chr14:70193400-70194000	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr14:70193400-70194000	Active TSS	Brain Substantia Nigra	brain
48	chr14:70193400-70194000	Active TSS	Colon Smooth Muscle	Colon
49	chr14:70193400-70194000	Active TSS	Duodenum Mucosa	Duodenum
50	chr14:70193400-70194000	Active TSS	Fetal Brain Female	brain

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