Variant report

Variant	rs7012488
Chromosome Location	chr8:126010941-126010942
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	chr8:126010042-126011165	HUVEC	blood vessel:	n/a	n/a
2	MAX	chr8:126010000-126011051	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr8:126010062-126011162	ProgFib	skin:	n/a	n/a
4	POLR2A	chr8:126010222-126010978	A549	lung:	n/a	n/a
5	SP1	chr8:126010083-126011105	HCT-116	colon:	n/a	chr8:126010700-126010712 chr8:126010651-126010661 chr8:126010650-126010662 chr8:126010457-126010467 chr8:126010651-126010661 chr8:126010650-126010662 chr8:126010701-126010710 chr8:126010701-126010711 chr8:126010456-126010468 chr8:126010555-126010576 chr8:126010702-126010711 chr8:126010652-126010661 chr8:126010701-126010710 chr8:126010647-126010661 chr8:126010652-126010661 chr8:126010700-126010712 chr8:126010457-126010467 chr8:126010701-126010711 chr8:126010651-126010660 chr8:126010491-126010501 chr8:126010609-126010630
6	POLR2A	chr8:126010626-126011139	GM12878	blood:	n/a	n/a
7	HDAC2	chr8:126009279-126012568	MCF-7	breast:	n/a	chr8:126011339-126011353 chr8:126012289-126012303 chr8:126011334-126011348 chr8:126009538-126009557
8	HCFC1	chr8:126009962-126013365	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr8:126010110-126011110	HUVEC	blood vessel:	n/a	n/a
10	TCF3	chr8:126010384-126010968	GM12878	blood:	n/a	n/a
11	FOXP2	chr8:126010280-126011212	PFSK-1	brain:	n/a	n/a
12	CHD2	chr8:126009990-126011282	GM12878	blood:	n/a	chr8:126010527-126010534
13	PML	chr8:126010113-126011070	K562	blood:	n/a	n/a
14	EGR1	chr8:126010253-126010984	ECC-1	luminal epithelium:	n/a	chr8:126010771-126010781 chr8:126010703-126010716 chr8:126010460-126010469 chr8:126010651-126010661 chr8:126010646-126010659 chr8:126010556-126010566 chr8:126010456-126010470 chr8:126010701-126010711 chr8:126010769-126010783
15	RELA	chr8:126010025-126011660	GM18951	blood:	n/a	n/a
16	ZEB1	chr8:126010737-126011257	GM12878	blood:	n/a	n/a
17	POLR2A	chr8:126010074-126011012	PANC-1	pancreas:	n/a	n/a
18	EP300	chr8:126010204-126011039	GM12878	blood:	n/a	chr8:126010866-126010875 chr8:126010827-126010836 chr8:126010628-126010637 chr8:126010663-126010679 chr8:126010626-126010635
19	MAX	chr8:126010021-126011322	K562	blood:	n/a	n/a
20	MYC	chr8:126010302-126011206	MCF-7	breast:	n/a	n/a
21	STAT5A	chr8:126010728-126011274	GM12878	blood:	n/a	chr8:126011218-126011230
22	PML	chr8:126010065-126011360	GM12878	blood:	n/a	n/a
23	POLR2A	chr8:126010116-126011234	GM12878	blood:	n/a	n/a
24	CHD2	chr8:126010482-126011019	HepG2	liver:	n/a	chr8:126010527-126010534
25	SP1	chr8:126010296-126010962	GM12878	blood:	n/a	chr8:126010700-126010712 chr8:126010651-126010661 chr8:126010650-126010662 chr8:126010457-126010467 chr8:126010651-126010661 chr8:126010650-126010662 chr8:126010701-126010710 chr8:126010701-126010711 chr8:126010456-126010468 chr8:126010555-126010576 chr8:126010702-126010711 chr8:126010652-126010661 chr8:126010701-126010710 chr8:126010647-126010661 chr8:126010652-126010661 chr8:126010700-126010712 chr8:126010457-126010467 chr8:126010701-126010711 chr8:126010651-126010660 chr8:126010491-126010501 chr8:126010609-126010630
26	PAX5	chr8:126010710-126010965	GM12878	blood:	n/a	n/a
27	RCOR1	chr8:126010625-126011000	K562	blood:	n/a	n/a
28	POLR2A	chr8:126010663-126010984	ECC-1	luminal epithelium:	n/a	n/a
29	JUND	chr8:126010190-126011001	H1-hESC	embryonic stem cell:	n/a	chr8:126010564-126010573
30	POLR2A	chr8:126009988-126011207	GM12878	blood:	n/a	n/a
31	POLR2A	chr8:126010091-126011230	MCF-7	breast:	n/a	n/a
32	POLR2A	chr8:126009691-126011173	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr8:126010653-126011039	H1-hESC	embryonic stem cell:	n/a	n/a
34	PML	chr8:126009890-126011294	MCF-7	breast:	n/a	n/a
35	MAX	chr8:126009926-126011512	HCT-116	colon:	n/a	chr8:126009942-126009951
36	CEBPD	chr8:126010193-126010985	HepG2	liver:	n/a	n/a
37	MXI1	chr8:126009886-126011319	HepG2	liver:	n/a	n/a
38	TAF1	chr8:126010368-126011208	K562	blood:	n/a	n/a
39	FOXM1	chr8:126010549-126011362	GM12878	blood:	n/a	n/a
40	POLR2A	chr8:126009725-126010966	HepG2	liver:	n/a	n/a
41	POLR2A	chr8:126010144-126010966	HCT-116	colon:	n/a	n/a
42	SMARCB1	chr8:126009857-126011267	Hela-S3	cervix:	n/a	n/a
43	MAZ	chr8:126009992-126011463	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr8:126010632-126011319	GM12892	blood:	n/a	n/a
45	REST	chr8:126010360-126011452	A549	lung:	n/a	chr8:126010375-126010388 chr8:126010375-126010388
46	EP300	chr8:126010202-126011119	HepG2	liver:	n/a	chr8:126010866-126010875 chr8:126010827-126010836 chr8:126010628-126010637 chr8:126010663-126010679 chr8:126010626-126010635
47	SPI1	chr8:126010727-126011074	GM12878	blood:	n/a	n/a
48	REST	chr8:126010064-126011073	H1-neurons	neurons:	n/a	chr8:126010375-126010388 chr8:126010375-126010388
49	NRF1	chr8:126010200-126011189	SK-N-SH	brain:	n/a	chr8:126010702-126010711 chr8:126010651-126010660 chr8:126010827-126010836
50	CREB1	chr8:126010118-126010960	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:125982086..125986890-chr8:126008872..126013713,7	MCF-7	breast:
2	chr5:96270371..96272445-chr8:126010140..126012494,2	MCF-7	breast:
3	chr8:125561947..125564833-chr8:126009022..126011860,2	MCF-7	breast:
4	chr8:125551256..125553908-chr8:126010348..126013536,3	K562	blood:
5	chr8:125866488..125871186-chr8:126008597..126013344,9	MCF-7	breast:
6	chr8:125827679..125829366-chr8:126009547..126011817,2	K562	blood:
7	chr8:125984363..125986971-chr8:126010848..126012374,2	K562	blood:
8	chr17:56708310..56710672-chr8:126009685..126011795,2	MCF-7	breast:
9	chr8:125825718..125829730-chr8:126008807..126013107,8	K562	blood:
10	chr8:126010080..126012320-chr8:126100351..126105467,4	MCF-7	breast:
11	chr8:126010242..126013491-chr8:126029890..126034767,9	MCF-7	breast:
12	chr8:125981986..125989189-chr8:126007056..126015447,32	MCF-7	breast:
13	chr8:125549374..125552995-chr8:126009841..126015179,7	MCF-7	breast:
14	chr8:125984363..125986150-chr8:126010874..126012415,2	K562	blood:
15	chr8:125550700..125556653-chr8:126010348..126014681,6	K562	blood:

Variant related genes	Relation type
ENSG00000253513	TF binding region
ENSG00000180938	Chromatin interaction
ENSG00000255491	Chromatin interaction
ENSG00000255080	Chromatin interaction
ENSG00000113441	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000247121	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10095831	0.81[AFR][1000 genomes]
rs10105106	0.85[AFR][1000 genomes]
rs10107103	0.81[AFR][1000 genomes]
rs10107456	0.81[AFR][1000 genomes]
rs10107535	0.81[AFR][1000 genomes]
rs10107774	0.85[AFR][1000 genomes]
rs10110658	0.81[AFR][1000 genomes]
rs10113187	0.81[AFR][1000 genomes]
rs10216983	0.84[AFR][1000 genomes]
rs28373620	0.81[AFR][1000 genomes]
rs28426979	0.81[AFR][1000 genomes]
rs28499344	0.81[AFR][1000 genomes]
rs28612361	0.81[AFR][1000 genomes]
rs28654092	0.81[AFR][1000 genomes]
rs28656968	0.81[AFR][1000 genomes]
rs28684823	0.81[AFR][1000 genomes]
rs28705718	0.81[AFR][1000 genomes]
rs28711324	0.81[AFR][1000 genomes]
rs28714194	0.81[AFR][1000 genomes]
rs28808359	0.81[AFR][1000 genomes]
rs28813511	0.81[AFR][1000 genomes]
rs28816450	0.81[AFR][1000 genomes]
rs28829886	0.81[AFR][1000 genomes]
rs28869565	0.81[AFR][1000 genomes]
rs6987181	0.81[AFR][1000 genomes]
rs6987278	0.81[AFR][1000 genomes]
rs6990024	0.81[AFR][1000 genomes]
rs6994686	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6995007	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7003311	0.81[AFR][1000 genomes]
rs7007356	0.81[AFR][1000 genomes]
rs73704505	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73706182	0.81[AFR][1000 genomes]
rs73706188	0.81[AFR][1000 genomes]
rs73706192	0.81[AFR][1000 genomes]
rs73707910	0.81[AFR][1000 genomes]
rs73707911	0.81[AFR][1000 genomes]
rs73707912	0.81[AFR][1000 genomes]
rs73707913	0.81[AFR][1000 genomes]
rs73707915	0.81[AFR][1000 genomes]
rs73707916	0.81[AFR][1000 genomes]
rs73707917	0.81[AFR][1000 genomes]
rs73707918	0.81[AFR][1000 genomes]
rs7812303	0.81[AFR][1000 genomes]
rs7815271	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7828622	0.81[AFR][1000 genomes]
rs7829785	0.81[AFR][1000 genomes]
rs7830483	0.81[AFR][1000 genomes]
rs7830592	0.81[AFR][1000 genomes]
rs9297706	0.81[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 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	chr8:126009400-126014000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr8:126009600-126011400	Active TSS	Rectal Smooth Muscle	rectum
3	chr8:126009800-126011200	Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr8:126009800-126011200	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr8:126009800-126011400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:126009800-126011800	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr8:126009800-126012200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:126009800-126012200	Active TSS	Brain Hippocampus Middle	brain
9	chr8:126009800-126013000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr8:126009800-126013400	Active TSS	Fetal Stomach	stomach
11	chr8:126009800-126013600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr8:126009800-126013800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:126009800-126014200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr8:126009800-126014200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr8:126009800-126014400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr8:126009800-126014400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:126009800-126014600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr8:126009800-126014800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:126009800-126015000	Active TSS	H9 Cell Line	embryonic stem cell
20	chr8:126009800-126015000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:126009800-126015000	Active TSS	Brain Cingulate Gyrus	brain
22	chr8:126010000-126011200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr8:126010000-126011200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:126010000-126011200	Active TSS	Colon Smooth Muscle	Colon
25	chr8:126010000-126011200	Active TSS	Placenta Amnion	Placenta Amnion
26	chr8:126010000-126011600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:126010000-126011600	Active TSS	Psoas Muscle	Psoas
28	chr8:126010000-126012000	Active TSS	Fetal Kidney	kidney
29	chr8:126010000-126012400	Active TSS	Aorta	Aorta
30	chr8:126010000-126013800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:126010000-126014200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:126010000-126014200	Bivalent/Poised TSS	HepG2	liver
33	chr8:126010000-126014200	Active TSS	K562	blood
34	chr8:126010000-126014400	Active TSS	Brain Angular Gyrus	brain
35	chr8:126010000-126014600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:126010000-126014600	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr8:126010000-126014600	Active TSS	NHLF	lung
38	chr8:126010000-126015000	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr8:126010000-126015200	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr8:126010000-126015400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:126010200-126011000	Active TSS	Primary T cells from cord blood	blood
42	chr8:126010200-126011000	Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr8:126010200-126011000	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr8:126010200-126011200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:126010200-126011200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:126010200-126011200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:126010200-126011200	Active TSS	Duodenum Mucosa	Duodenum
48	chr8:126010200-126011200	Active TSS	Placenta	Placenta
49	chr8:126010200-126011200	Active TSS	Left Ventricle	heart
50	chr8:126010200-126011200	Active TSS	Pancreas	Pancrea

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