Variant report

Variant	rs28495052
Chromosome Location	chr14:24638026-24638027
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	POLR2A	chr14:24637904-24639405	GM12892	blood:	n/a	n/a
2	POLR2A	chr14:24637776-24638422	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:24637902-24638129	GM12891	blood:	n/a	n/a
4	POLR2A	chr14:24628953-24638117	GM12892	blood:	n/a	n/a
5	POLR2A	chr14:24637948-24638077	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:24637538-24638128	GM12891	blood:	n/a	n/a
7	POLR2A	chr14:24629025-24642975	GM12878	blood:	n/a	n/a
8	POLR2A	chr14:24628755-24643416	GM12878	blood:	n/a	n/a
9	POLR2A	chr14:24628891-24643060	GM12892	blood:	n/a	n/a
10	POLR2A	chr14:24635678-24642994	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:24575682..24577445-chr14:24635634..24638482,2	K562	blood:

Variant related genes	Relation type
REC8	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10467733	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12432304	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2295977	0.94[EUR][1000 genomes]
rs2295978	0.94[EUR][1000 genomes]
rs36113166	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4761	0.90[ASN][1000 genomes]
rs59110805	0.97[EUR][1000 genomes]
rs7146310	0.95[EUR][1000 genomes]
rs7154911	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv869985	chr14:24578013-24652669	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24631000-24640600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:24631200-24640600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:24631600-24640400	Weak transcription	Fetal Brain Male	brain
4	chr14:24631600-24653800	Weak transcription	K562	blood
5	chr14:24632000-24639200	Strong transcription	Osteobl	bone
6	chr14:24632200-24640000	Strong transcription	Thymus	Thymus
7	chr14:24632400-24639800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:24632400-24639800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:24632600-24640400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:24632800-24638800	Strong transcription	Fetal Intestine Large	intestine
11	chr14:24632800-24639000	Strong transcription	Left Ventricle	heart
12	chr14:24632800-24639200	Strong transcription	Lung	lung
13	chr14:24632800-24639400	Strong transcription	Fetal Stomach	stomach
14	chr14:24632800-24639600	Strong transcription	Fetal Intestine Small	intestine
15	chr14:24633000-24639200	Strong transcription	Liver	Liver
16	chr14:24633200-24639200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr14:24633600-24639800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr14:24633800-24639800	Strong transcription	Fetal Thymus	thymus
19	chr14:24634400-24639400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:24634400-24639800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:24634400-24639800	Strong transcription	Placenta	Placenta
22	chr14:24634400-24640000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr14:24634400-24640200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:24634600-24639200	Strong transcription	Spleen	Spleen
25	chr14:24634600-24640600	Weak transcription	Fetal Kidney	kidney
26	chr14:24634600-24641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:24634800-24639200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr14:24634800-24640600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:24635200-24639400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:24635200-24640200	Strong transcription	Fetal Muscle Leg	muscle
31	chr14:24635200-24640600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:24635200-24647400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr14:24635400-24638800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr14:24635400-24639800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr14:24635400-24640200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:24635400-24640600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:24635400-24640600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr14:24635400-24640600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr14:24635400-24640600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr14:24635400-24640800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:24635400-24641200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr14:24635400-24647800	Weak transcription	HMEC	breast
43	chr14:24635600-24640600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr14:24635600-24640800	Weak transcription	Fetal Heart	heart
45	chr14:24635600-24647000	Weak transcription	Dnd41	blood
46	chr14:24636000-24640800	Weak transcription	HUVEC	blood vessel
47	chr14:24636200-24639600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:24636200-24640200	Weak transcription	Brain Germinal Matrix	brain
49	chr14:24636200-24640600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr14:24636200-24640600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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