Variant report

Variant	rs28451175
Chromosome Location	chr8:52815242-52815243
allele	A/C
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	RELA	chr8:52814478-52815263	GM19099	blood:	n/a	n/a
2	ZNF384	chr8:52814666-52815283	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:52809769-52815334	GM12891	blood:	n/a	n/a
4	NFYB	chr8:52814875-52815464	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:52812423..52815301-chr8:52851311..52852842,2	K562	blood:
2	chr8:52814869..52817627-chr8:52818726..52822449,3	MCF-7	breast:
3	chr8:52813732..52817292-chr8:52828515..52831149,4	K562	blood:

Variant related genes	Relation type
PCMTD1	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11551686	1.00[ASN][1000 genomes]
rs12541846	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12543540	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544903	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12545812	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12545881	1.00[ASN][1000 genomes]
rs56117807	0.97[ASN][1000 genomes]
rs6473665	1.00[ASN][1000 genomes]
rs6993171	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015360	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73583651	1.00[ASN][1000 genomes]
rs73583663	0.93[ASN][1000 genomes]
rs7819631	1.00[ASN][1000 genomes]
rs9643465	1.00[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	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats 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	19 gene(s)	inside rSNPs	diseases
4	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52812800-52816800	Weak transcription	Gastric	stomach
2	chr8:52812800-52822200	Weak transcription	Esophagus	oesophagus
3	chr8:52812800-52827800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:52812800-52833400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:52813200-52815400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr8:52813200-52815600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr8:52813200-52816600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:52813200-52816800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:52813200-52822200	Weak transcription	Aorta	Aorta
10	chr8:52813200-52831000	Weak transcription	Right Ventricle	heart
11	chr8:52813200-52833200	Weak transcription	Brain Angular Gyrus	brain
12	chr8:52813400-52815600	Enhancers	Primary T cells from cord blood	blood
13	chr8:52813400-52815800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:52813400-52816200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr8:52813400-52816800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:52813400-52816800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:52813400-52826800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:52813400-52827000	Weak transcription	Fetal Intestine Large	intestine
19	chr8:52813400-52829000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:52813400-52829200	Weak transcription	Brain Anterior Caudate	brain
21	chr8:52813400-52837200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:52813600-52815600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr8:52813600-52837400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:52813800-52831600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:52813800-52831600	Weak transcription	Fetal Stomach	stomach
26	chr8:52813800-52833200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:52813800-52835800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:52813800-52837400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:52814000-52816000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr8:52814000-52816000	Weak transcription	Ovary	ovary
31	chr8:52814000-52816800	Weak transcription	Lung	lung
32	chr8:52814000-52817400	Weak transcription	Colonic Mucosa	Colon
33	chr8:52814000-52833200	Weak transcription	Fetal Lung	lung
34	chr8:52814000-52833600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr8:52814000-52836200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:52814000-52837400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:52814000-52839200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:52814200-52815400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr8:52814200-52816600	Weak transcription	HepG2	liver
40	chr8:52814200-52816800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr8:52814200-52821200	Weak transcription	Thymus	Thymus
42	chr8:52814200-52842000	Weak transcription	Brain Substantia Nigra	brain
43	chr8:52814200-52850000	Weak transcription	Spleen	Spleen
44	chr8:52814400-52815400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr8:52814400-52815400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:52814400-52815400	Flanking Active TSS	GM12878-XiMat	blood
47	chr8:52814600-52815400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr8:52814800-52816800	Weak transcription	Left Ventricle	heart
49	chr8:52814800-52817200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr8:52814800-52818800	Weak transcription	Psoas Muscle	Psoas

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