Variant report

Variant	rs12334564
Chromosome Location	chr8:124780824-124780825
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	POLR2A	chr8:124780297-124780984	SK-N-SH	brain:	n/a	n/a
2	CHD2	chr8:124780196-124781268	Hela-S3	cervix:	n/a	chr8:124781253-124781260 chr8:124780882-124780892 chr8:124780584-124780594
3	MTA3	chr8:124780267-124780993	GM12878	blood:	n/a	n/a
4	TAF1	chr8:124780150-124781117	PFSK-1	brain:	n/a	n/a
5	TCF12	chr8:124780614-124780835	GM12878	blood:	n/a	n/a
6	CHD1	chr8:124779752-124781938	IMR90	lung:	n/a	chr8:124781253-124781260 chr8:124780882-124780892 chr8:124780584-124780594
7	TAF1	chr8:124780295-124781101	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr8:124780416-124780909	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr8:124780299-124780978	K562	blood:	n/a	n/a
10	MAX	chr8:124779871-124781007	A549	lung:	n/a	n/a
11	POLR2A	chr8:124780445-124781107	GM12878	blood:	n/a	n/a
12	POU2F2	chr8:124780506-124780992	GM12891	blood:	n/a	chr8:124780587-124780599
13	GABPA	chr8:124780054-124781218	A549	lung:	n/a	chr8:124780539-124780548
14	TCF3	chr8:124780654-124780850	GM12878	blood:	n/a	n/a
15	POLR2A	chr8:124780270-124781043	A549	lung:	n/a	n/a
16	IRF1	chr8:124780368-124780909	K562	blood:	n/a	chr8:124780582-124780596 chr8:124780628-124780642 chr8:124780604-124780618
17	SP4	chr8:124780233-124780879	H1-hESC	embryonic stem cell:	n/a	chr8:124780602-124780618
18	POLR2A	chr8:124780300-124781291	GM19193	blood:	n/a	n/a
19	POLR2A	chr8:124780375-124781204	GM12892	blood:	n/a	n/a
20	ETS1	chr8:124780467-124780994	GM12878	blood:	n/a	chr8:124780660-124780670 chr8:124780537-124780548 chr8:124780682-124780692 chr8:124780659-124780668
21	POLR2A	chr8:124780257-124780995	H1-neurons	neurons:	n/a	n/a
22	YY1	chr8:124780523-124780991	ECC-1	luminal epithelium:	n/a	n/a
23	ELF1	chr8:124780450-124781038	GM12878	blood:	n/a	n/a
24	POLR2A	chr8:124780410-124781750	GM12878	blood:	n/a	n/a
25	CEBPD	chr8:124780339-124780897	HepG2	liver:	n/a	n/a
26	SRF	chr8:124780064-124781335	MCF-7	breast:	n/a	chr8:124780632-124780642
27	MAX	chr8:124780196-124781356	MCF-7	breast:	n/a	n/a
28	POLR2A	chr8:124780508-124781702	GM12878	blood:	n/a	n/a
29	POLR2A	chr8:124780195-124781033	K562	blood:	n/a	n/a
30	YY1	chr8:124780565-124781015	GM12892	blood:	n/a	n/a
31	ATF1	chr8:124780474-124780833	K562	blood:	n/a	n/a
32	TAF1	chr8:124780314-124780985	K562	blood:	n/a	n/a
33	SP1	chr8:124780346-124780961	A549	lung:	n/a	chr8:124780630-124780642 chr8:124780631-124780640 chr8:124780605-124780615 chr8:124780631-124780641 chr8:124780585-124780594 chr8:124780630-124780642 chr8:124780586-124780595 chr8:124780631-124780641 chr8:124780585-124780594 chr8:124780584-124780596 chr8:124780605-124780615 chr8:124780584-124780596 chr8:124780631-124780640 chr8:124780632-124780641 chr8:124780631-124780645
34	SMARCB1	chr8:124780254-124781327	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr8:124780257-124781006	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr8:124780560-124780967	GM12891	blood:	n/a	n/a
37	MYC	chr8:124780535-124780919	MCF10A-Er-Src	breast:	n/a	n/a
38	ETS1	chr8:124780536-124781026	K562	blood:	n/a	chr8:124780660-124780670 chr8:124780537-124780548 chr8:124780682-124780692 chr8:124780659-124780668
39	TAF1	chr8:124780584-124780869	GM12892	blood:	n/a	n/a
40	YY1	chr8:124780371-124781066	GM12878	blood:	n/a	n/a
41	MAX	chr8:124779918-124781751	MCF-7	breast:	n/a	n/a
42	TAF1	chr8:124780306-124781031	A549	lung:	n/a	n/a
43	POLR2A	chr8:124780161-124781024	U87	brain:	n/a	n/a
44	CREB1	chr8:124780437-124780873	A549	lung:	n/a	n/a
45	GABPA	chr8:124780256-124781113	SK-N-SH	brain:	n/a	chr8:124780539-124780548
46	POLR2A	chr8:124780268-124781349	K562	blood:	n/a	n/a
47	POLR2A	chr8:124780251-124781287	K562	blood:	n/a	n/a
48	POLR2A	chr8:124780370-124781288	GM12878	blood:	n/a	n/a
49	ELF1	chr8:124779969-124780900	K562	blood:	n/a	n/a
50	TCF12	chr8:124780243-124781373	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:1302797..1303588-chr8:124780278..124780843,2	Hela-S3	cervix:
2	chr8:124779119..124781941-chr8:125550806..125552574,2	MCF-7	breast:
3	chr16:27322814..27325675-chr8:124780748..124782249,2	MCF-7	breast:
4	chr8:124780302..124782573-chr8:125486403..125488504,7	MCF-7	breast:
5	chr1:91487030..91487641-chr8:124780507..124781153,2	Hela-S3	cervix:
6	chr8:124286589..124288147-chr8:124780495..124782975,2	K562	blood:
7	chr6:127664357..127665118-chr8:124780247..124780945,2	HCT-116	colon:
8	chr8:124748655..124751535-chr8:124779405..124781112,2	MCF-7	breast:
9	chr8:124428663..124430757-chr8:124778757..124780951,2	K562	blood:
10	chr8:124427993..124430634-chr8:124780278..124783215,3	MCF-7	breast:

Variant related genes	Relation type
FAM91A1	TF binding region
ENSG00000147687	Chromatin interaction
ENSG00000156795	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000104537	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000093144	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000077238	Chromatin interaction
ENSG00000108953	Chromatin interaction
ENSG00000122482	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10088262	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10099401	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12541177	0.85[JPT][hapmap];0.86[AMR][1000 genomes]
rs12549683	0.85[AMR][1000 genomes]
rs12682209	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13270541	0.86[AMR][1000 genomes]
rs1367829	0.86[AMR][1000 genomes]
rs35420592	0.88[ASN][1000 genomes]
rs6470186	0.81[CHB][hapmap]
rs6990565	0.86[AMR][1000 genomes]
rs7015861	0.85[JPT][hapmap];0.86[AMR][1000 genomes]
rs7815695	0.85[AMR][1000 genomes]
rs7827665	0.84[AMR][1000 genomes]
rs7828192	0.85[JPT][hapmap];0.82[AMR][1000 genomes]
rs7833650	0.80[JPT][hapmap];0.82[AMR][1000 genomes]
rs7846164	0.83[CHB][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs9918907	0.85[JPT][hapmap]

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	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv6373	chr8:124741567-124786609	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
3	esv3411799	chr8:124779296-124782144	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124779600-124781400	Active TSS	Fetal Lung	lung
2	chr8:124779800-124781200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:124779800-124781200	Active TSS	Primary T cells from cord blood	blood
4	chr8:124779800-124781200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:124779800-124781200	Active TSS	Brain Germinal Matrix	brain
6	chr8:124779800-124781200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr8:124779800-124781400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:124779800-124781400	Active TSS	Brain Angular Gyrus	brain
9	chr8:124779800-124781400	Active TSS	Brain Anterior Caudate	brain
10	chr8:124779800-124781400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:124779800-124781600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:124779800-124781600	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr8:124779800-124781600	Active TSS	Esophagus	oesophagus
14	chr8:124779800-124781600	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr8:124779800-124781800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:124779800-124782000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:124779800-124782200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr8:124779800-124782800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr8:124779800-124783200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:124780000-124781000	Active TSS	HepG2	liver
21	chr8:124780000-124781200	Active TSS	Fetal Brain Male	brain
22	chr8:124780000-124781200	Active TSS	Fetal Brain Female	brain
23	chr8:124780000-124781400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:124780000-124781400	Active TSS	Brain Cingulate Gyrus	brain
25	chr8:124780000-124781400	Active TSS	Colon Smooth Muscle	Colon
26	chr8:124780000-124781400	Active TSS	Placenta Amnion	Placenta Amnion
27	chr8:124780000-124781600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:124780000-124781600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:124780000-124781600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:124780000-124781600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:124780000-124781600	Active TSS	Fetal Kidney	kidney
32	chr8:124780000-124781600	Active TSS	Right Ventricle	heart
33	chr8:124780000-124781600	Active TSS	Small Intestine	intestine
34	chr8:124780000-124781800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:124780000-124781800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:124780000-124781800	Active TSS	Left Ventricle	heart
37	chr8:124780000-124781800	Active TSS	Ovary	ovary
38	chr8:124780000-124781800	Active TSS	HSMMtube	muscle
39	chr8:124780000-124782000	Active TSS	H9 Cell Line	embryonic stem cell
40	chr8:124780000-124782000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:124780000-124782400	Active TSS	Aorta	Aorta
42	chr8:124780000-124782400	Active TSS	Colonic Mucosa	Colon
43	chr8:124780000-124782600	Active TSS	A549	lung
44	chr8:124780000-124783200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:124780200-124781200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:124780200-124781200	Active TSS	Adipose Nuclei	Adipose
47	chr8:124780200-124781200	Active TSS	Fetal Heart	heart
48	chr8:124780200-124781200	Active TSS	Fetal Muscle Leg	muscle
49	chr8:124780200-124781200	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr8:124780200-124781200	Active TSS	Skeletal Muscle Male	skeletal muscle

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