Variant report

Variant	rs12588728
Chromosome Location	chr14:39749015-39749016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:39743137..39745914-chr14:39748043..39750777,3	K562	blood:
2	chr14:39735889..39738700-chr14:39747037..39749372,2	MCF-7	breast:
3	chr14:39736361..39737922-chr14:39747941..39749599,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258940	Chromatin interaction
ENSG00000150527	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10131617	0.88[ASN][1000 genomes]
rs10133417	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10134143	0.83[ASN][1000 genomes]
rs10134365	0.89[ASN][1000 genomes]
rs10137052	0.81[ASN][1000 genomes]
rs10137352	0.82[ASN][1000 genomes]
rs10138024	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10151659	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10162550	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11157058	0.83[ASN][1000 genomes]
rs11620695	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11621264	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11621330	0.84[ASN][1000 genomes]
rs11621822	0.84[ASN][1000 genomes]
rs11624144	0.83[ASN][1000 genomes]
rs11624839	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11626150	0.83[ASN][1000 genomes]
rs11626679	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11627580	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11628075	0.82[ASN][1000 genomes]
rs11845046	0.85[ASN][1000 genomes]
rs12587713	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12588386	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12589831	0.85[ASN][1000 genomes]
rs12882709	0.84[ASN][1000 genomes]
rs12883781	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12892482	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12896838	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1594842	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17109021	0.84[ASN][1000 genomes]
rs17109028	0.84[ASN][1000 genomes]
rs17109056	0.85[ASN][1000 genomes]
rs17109073	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17109100	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1897792	0.84[ASN][1000 genomes]
rs2274399	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28626340	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28680827	0.83[ASN][1000 genomes]
rs35065854	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35184650	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35201135	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35613410	0.84[ASN][1000 genomes]
rs7143646	0.83[ASN][1000 genomes]
rs7148150	0.82[ASN][1000 genomes]
rs7150735	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7151835	0.80[ASN][1000 genomes]
rs8004348	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8004716	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs956108	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9671943	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9671953	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39737000-39751800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:39737800-39750800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:39737800-39763800	Weak transcription	Gastric	stomach
4	chr14:39738000-39750600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:39738000-39752000	Weak transcription	Stomach Mucosa	stomach
6	chr14:39738000-39763800	Weak transcription	HSMM	muscle
7	chr14:39738200-39751800	Weak transcription	Colonic Mucosa	Colon
8	chr14:39738200-39751800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:39738200-39759200	Weak transcription	NH-A	brain
10	chr14:39738200-39763800	Weak transcription	Brain Angular Gyrus	brain
11	chr14:39738200-39763800	Weak transcription	HSMMtube	muscle
12	chr14:39738200-39766200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:39738600-39763800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:39738800-39764800	Weak transcription	NHDF-Ad	bronchial
16	chr14:39739000-39751800	Weak transcription	Brain Anterior Caudate	brain
17	chr14:39739200-39764000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr14:39739400-39749200	Weak transcription	Small Intestine	intestine
19	chr14:39739400-39758200	Weak transcription	NHEK	skin
20	chr14:39739800-39763400	Weak transcription	Lung	lung
21	chr14:39739800-39766400	Weak transcription	Aorta	Aorta
22	chr14:39740000-39751600	Weak transcription	Ovary	ovary
23	chr14:39740400-39751800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:39741200-39764200	Weak transcription	Spleen	Spleen
25	chr14:39742000-39751800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:39742000-39763400	Weak transcription	Esophagus	oesophagus
27	chr14:39742800-39755200	Weak transcription	Fetal Stomach	stomach
28	chr14:39743800-39750600	Weak transcription	Fetal Thymus	thymus
29	chr14:39743800-39755800	Weak transcription	Fetal Muscle Leg	muscle
30	chr14:39744600-39769800	Weak transcription	Pancreas	Pancrea
31	chr14:39745200-39752200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:39745400-39760600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr14:39745400-39764000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:39745600-39752200	Weak transcription	Colon Smooth Muscle	Colon
35	chr14:39745600-39764000	Weak transcription	HMEC	breast
36	chr14:39746000-39751600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr14:39746200-39753400	Strong transcription	HepG2	liver
38	chr14:39746200-39755400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr14:39746200-39758000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:39746200-39776600	Weak transcription	K562	blood
41	chr14:39746400-39752200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr14:39746400-39752600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:39746400-39752600	Strong transcription	Fetal Intestine Large	intestine
44	chr14:39746400-39771200	Weak transcription	Fetal Heart	heart
45	chr14:39746800-39750200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:39747000-39753000	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr14:39747000-39753800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:39747000-39755600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr14:39747200-39750400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr14:39747200-39753000	Strong transcription	Duodenum Mucosa	Duodenum

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