Variant report

Variant	rs4545087
Chromosome Location	chr8:52758970-52758971
allele	C/G
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	chr8:52757740-52759729	K562	blood:	n/a	n/a
2	POLR2A	chr8:52758720-52759215	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:52758813..52761713-chr8:52810752..52813685,2	MCF-7	breast:

Variant related genes	Relation type
PCMTD1	TF binding region
ENSG00000168300	Chromatin interaction
ENSG00000228801	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12164174	0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs4321995	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4401853	0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4418330	0.89[AFR][1000 genomes]
rs4518654	1.00[ASW][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs4565452	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs4607598	0.83[AMR][1000 genomes]
rs4873614	0.83[AMR][1000 genomes]
rs4873615	0.83[AMR][1000 genomes]
rs4873620	0.95[AFR][1000 genomes]
rs6473662	0.86[ASW][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.83[AMR][1000 genomes]
rs6997972	0.92[YRI][hapmap];0.87[AFR][1000 genomes]
rs7459831	0.98[AFR][1000 genomes]
rs7459885	0.86[ASW][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.83[AMR][1000 genomes]
rs7816619	0.83[AMR][1000 genomes]
rs7820936	0.81[AFR][1000 genomes]
rs7825492	1.00[YRI][hapmap]
rs7827030	0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs9298468	0.83[AMR][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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52722000-52771400	Weak transcription	Gastric	stomach
2	chr8:52728200-52759200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:52731200-52763400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:52731200-52771000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr8:52733200-52763600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:52733200-52783800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:52733800-52776400	Weak transcription	GM12878-XiMat	blood
8	chr8:52734200-52761600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:52735600-52763600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:52735600-52773400	Weak transcription	Brain Germinal Matrix	brain
11	chr8:52735800-52763400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:52737200-52760400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:52739800-52765400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:52739800-52782600	Weak transcription	K562	blood
15	chr8:52742000-52765400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:52742600-52763400	Weak transcription	Brain Substantia Nigra	brain
17	chr8:52743000-52771400	Weak transcription	HepG2	liver
18	chr8:52743200-52765400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:52743400-52763400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:52743400-52766200	Weak transcription	HSMMtube	muscle
21	chr8:52743400-52771400	Weak transcription	Esophagus	oesophagus
22	chr8:52743800-52763000	Weak transcription	Fetal Kidney	kidney
23	chr8:52743800-52763600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr8:52743800-52765200	Weak transcription	Brain Hippocampus Middle	brain
25	chr8:52744000-52763000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr8:52744000-52763600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:52744000-52768200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:52744000-52771200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:52744000-52771400	Weak transcription	Fetal Brain Female	brain
30	chr8:52744200-52770800	Weak transcription	Placenta	Placenta
31	chr8:52744400-52768600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:52744600-52762400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:52744600-52769000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:52744600-52769200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr8:52745600-52768200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:52745800-52762600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:52745800-52765400	Weak transcription	Thymus	Thymus
38	chr8:52745800-52769400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr8:52746000-52762200	Weak transcription	Liver	Liver
40	chr8:52746000-52763000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr8:52746000-52765600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:52746200-52762400	Weak transcription	Adipose Nuclei	Adipose
43	chr8:52746200-52763000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr8:52751000-52765400	Weak transcription	Fetal Intestine Large	intestine
45	chr8:52751000-52765400	Weak transcription	Fetal Stomach	stomach
46	chr8:52751000-52768000	Weak transcription	Fetal Muscle Leg	muscle
47	chr8:52751200-52765400	Weak transcription	Fetal Intestine Small	intestine
48	chr8:52751200-52771400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:52752000-52763600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:52752400-52762400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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