Variant report

Variant	rs6995007
Chromosome Location	chr8:126011227-126011228
allele	G/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	HDAC2	chr8:126009279-126012568	MCF-7	breast:	n/a	chr8:126011339-126011353 chr8:126012289-126012303 chr8:126011334-126011348 chr8:126009538-126009557
2	HCFC1	chr8:126009962-126013365	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr8:126009990-126011282	GM12878	blood:	n/a	chr8:126010527-126010534
4	RELA	chr8:126010025-126011660	GM18951	blood:	n/a	n/a
5	ZEB1	chr8:126010737-126011257	GM12878	blood:	n/a	n/a
6	MAX	chr8:126010021-126011322	K562	blood:	n/a	n/a
7	STAT5A	chr8:126010728-126011274	GM12878	blood:	n/a	chr8:126011218-126011230
8	PML	chr8:126010065-126011360	GM12878	blood:	n/a	n/a
9	POLR2A	chr8:126010116-126011234	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:126010091-126011230	MCF-7	breast:	n/a	n/a
11	PML	chr8:126009890-126011294	MCF-7	breast:	n/a	n/a
12	MAX	chr8:126009926-126011512	HCT-116	colon:	n/a	chr8:126009942-126009951
13	MXI1	chr8:126009886-126011319	HepG2	liver:	n/a	n/a
14	FOXM1	chr8:126010549-126011362	GM12878	blood:	n/a	n/a
15	SMARCB1	chr8:126009857-126011267	Hela-S3	cervix:	n/a	n/a
16	MAZ	chr8:126009992-126011463	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr8:126010632-126011319	GM12892	blood:	n/a	n/a
18	REST	chr8:126010360-126011452	A549	lung:	n/a	chr8:126010375-126010388 chr8:126010375-126010388
19	POLR2A	chr8:126009912-126011299	GM15510	blood:	n/a	n/a
20	RCOR1	chr8:126010061-126011742	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr8:126009324-126011465	K562	blood:	n/a	n/a
22	RFX5	chr8:126009446-126011724	SK-N-SH	brain:	n/a	chr8:126010786-126010801 chr8:126009940-126009957 chr8:126010886-126010903 chr8:126009941-126009956 chr8:126010565-126010574 chr8:126010619-126010628
23	EGR1	chr8:126010257-126011330	HCT-116	colon:	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
24	POLR2A	chr8:126009487-126011320	K562	blood:	n/a	n/a
25	MXI1	chr8:126009574-126012833	SK-N-SH	brain:	n/a	n/a
26	SIN3A	chr8:126009786-126012731	H1-hESC	embryonic stem cell:	n/a	chr8:126010733-126010744 chr8:126010052-126010063
27	ZMIZ1	chr8:126011132-126011621	K562	blood:	n/a	n/a
28	MYC	chr8:126010318-126011370	Hela-S3	cervix:	n/a	n/a
29	SIN3AK20	chr8:126010563-126011253	H1-hESC	embryonic stem cell:	n/a	n/a
30	ELF1	chr8:126010382-126011292	K562	blood:	n/a	chr8:126010626-126010635 chr8:126010868-126010877
31	ZNF263	chr8:126009966-126011968	K562	blood:	n/a	n/a
32	POLR2A	chr8:126009364-126011891	GM12878	blood:	n/a	n/a
33	GTF2F1	chr8:126010960-126011820	Hela-S3	cervix:	n/a	n/a
34	MXI1	chr8:126010029-126011706	GM12878	blood:	n/a	n/a
35	TCF7L2	chr8:126010866-126011247	Hela-S3	cervix:	n/a	n/a
36	TCF12	chr8:126009833-126012026	A549	lung:	n/a	chr8:126010738-126010745
37	TEAD4	chr8:126009891-126011287	K562	blood:	n/a	n/a
38	POLR2A	chr8:126009299-126011280	HepG2	liver:	n/a	n/a
39	POLR2A	chr8:126009811-126011419	HL-60	blood:	n/a	n/a
40	MAX	chr8:126009907-126011968	A549	lung:	n/a	chr8:126009942-126009951
41	SREBP2	chr8:126009681-126011473	GM12878	blood:	n/a	n/a
42	MAX	chr8:126010058-126011825	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr8:126009878-126011392	Hela-S3	cervix:	n/a	n/a
44	MAX	chr8:126009650-126012765	MCF-7	breast:	n/a	chr8:126009942-126009951
45	RELA	chr8:126010204-126011288	GM10847	blood:	n/a	n/a
46	CHD2	chr8:126010185-126011335	Hela-S3	cervix:	n/a	chr8:126010527-126010534
47	MYC	chr8:126009750-126011704	K562	blood:	n/a	chr8:126009942-126009951
48	POLR2A	chr8:126010634-126011259	GM12892	blood:	n/a	n/a
49	RAD21	chr8:126010698-126011249	IMR90	lung:	n/a	n/a
50	YY1	chr8:126010773-126011243	H1-hESC	embryonic stem cell:	n/a	chr8:126010863-126010877 chr8:126010873-126010881 chr8:126010868-126010877 chr8:126011020-126011042 chr8:126011023-126011031 chr8:126011123-126011134

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
ENSG00000104549	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000180938	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000247121	Chromatin interaction
ENSG00000113441	Chromatin interaction
ENSG00000255491	Chromatin interaction
ENSG00000255080	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10095831	0.93[AFR][1000 genomes]
rs10105106	0.98[AFR][1000 genomes]
rs10107103	0.93[AFR][1000 genomes]
rs10107456	0.93[AFR][1000 genomes]
rs10107535	0.93[AFR][1000 genomes]
rs10107774	0.98[AFR][1000 genomes]
rs10110658	0.93[AFR][1000 genomes]
rs10113187	0.93[AFR][1000 genomes]
rs10216983	0.96[AFR][1000 genomes]
rs28373620	0.93[AFR][1000 genomes]
rs28426979	0.93[AFR][1000 genomes]
rs28478462	0.88[AFR][1000 genomes]
rs28483573	0.91[AFR][1000 genomes]
rs28499344	0.93[AFR][1000 genomes]
rs28537766	0.91[AFR][1000 genomes]
rs28612361	0.93[AFR][1000 genomes]
rs28654092	0.93[AFR][1000 genomes]
rs28656968	0.93[AFR][1000 genomes]
rs28684823	0.93[AFR][1000 genomes]
rs28705718	0.93[AFR][1000 genomes]
rs28711324	0.93[AFR][1000 genomes]
rs28714194	0.93[AFR][1000 genomes]
rs28808359	0.93[AFR][1000 genomes]
rs28813511	0.93[AFR][1000 genomes]
rs28816450	0.93[AFR][1000 genomes]
rs28829886	0.93[AFR][1000 genomes]
rs28869565	0.93[AFR][1000 genomes]
rs34299285	0.87[AFR][1000 genomes]
rs3853255	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987181	0.93[AFR][1000 genomes]
rs6987278	0.93[AFR][1000 genomes]
rs6990024	0.93[AFR][1000 genomes]
rs6994686	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7003311	0.93[AFR][1000 genomes]
rs7007356	0.93[AFR][1000 genomes]
rs7012488	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73704505	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73706182	0.93[AFR][1000 genomes]
rs73706183	0.91[AFR][1000 genomes]
rs73706186	0.86[AFR][1000 genomes]
rs73706188	0.93[AFR][1000 genomes]
rs73706192	0.93[AFR][1000 genomes]
rs73707910	0.93[AFR][1000 genomes]
rs73707911	0.93[AFR][1000 genomes]
rs73707912	0.93[AFR][1000 genomes]
rs73707913	0.93[AFR][1000 genomes]
rs73707915	0.93[AFR][1000 genomes]
rs73707916	0.93[AFR][1000 genomes]
rs73707917	0.93[AFR][1000 genomes]
rs73707918	0.93[AFR][1000 genomes]
rs73707923	0.92[AFR][1000 genomes]
rs73707924	0.92[AFR][1000 genomes]
rs7812303	0.93[AFR][1000 genomes]
rs7815271	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7828622	0.93[AFR][1000 genomes]
rs7829785	0.93[AFR][1000 genomes]
rs7830483	0.93[AFR][1000 genomes]
rs7830592	0.93[AFR][1000 genomes]
rs9297706	0.93[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	chr8:126009800-126011400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:126009800-126011800	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr8:126009800-126012200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:126009800-126012200	Active TSS	Brain Hippocampus Middle	brain
7	chr8:126009800-126013000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr8:126009800-126013400	Active TSS	Fetal Stomach	stomach
9	chr8:126009800-126013600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr8:126009800-126013800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:126009800-126014200	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr8:126009800-126014200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr8:126009800-126014400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr8:126009800-126014400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:126009800-126014600	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr8:126009800-126014800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:126009800-126015000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr8:126009800-126015000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:126009800-126015000	Active TSS	Brain Cingulate Gyrus	brain
20	chr8:126010000-126011600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:126010000-126011600	Active TSS	Psoas Muscle	Psoas
22	chr8:126010000-126012000	Active TSS	Fetal Kidney	kidney
23	chr8:126010000-126012400	Active TSS	Aorta	Aorta
24	chr8:126010000-126013800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:126010000-126014200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:126010000-126014200	Bivalent/Poised TSS	HepG2	liver
27	chr8:126010000-126014200	Active TSS	K562	blood
28	chr8:126010000-126014400	Active TSS	Brain Angular Gyrus	brain
29	chr8:126010000-126014600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:126010000-126014600	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr8:126010000-126014600	Active TSS	NHLF	lung
32	chr8:126010000-126015000	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr8:126010000-126015200	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr8:126010000-126015400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:126010200-126011600	Active TSS	Brain Anterior Caudate	brain
36	chr8:126010200-126011600	Active TSS	Fetal Intestine Small	intestine
37	chr8:126010200-126011600	Active TSS	Spleen	Spleen
38	chr8:126010200-126012000	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr8:126010200-126012000	Active TSS	Fetal Lung	lung
40	chr8:126010200-126012000	Active TSS	A549	lung
41	chr8:126010200-126012000	Active TSS	Osteobl	bone
42	chr8:126010200-126012200	Active TSS	Muscle Satellite Cultured Cells	--
43	chr8:126010200-126012200	Active TSS	Fetal Intestine Large	intestine
44	chr8:126010200-126012200	Active TSS	Right Ventricle	heart
45	chr8:126010200-126012200	Active TSS	Small Intestine	intestine
46	chr8:126010200-126012600	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr8:126010200-126012800	Active TSS	Ovary	ovary
48	chr8:126010200-126013000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:126010200-126013000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:126010200-126013000	Active TSS	Gastric	stomach

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