Variant report

Variant	rs2241753
Chromosome Location	chr8:64080486-64080487
allele	A/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	chr8:64080392-64081886	GM15510	blood:	n/a	n/a
2	MXI1	chr8:64080476-64081690	HepG2	liver:	n/a	n/a
3	RFX5	chr8:64080462-64081898	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr8:64080369-64081662	K562	blood:	n/a	n/a
5	IRF1	chr8:64080101-64081456	K562	blood:	n/a	chr8:64081074-64081088
6	POLR2A	chr8:64079458-64081451	K562	blood:	n/a	n/a
7	POLR2A	chr8:64080395-64081752	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr8:64080464-64081816	K562	blood:	n/a	n/a
9	POLR2A	chr8:64080435-64081855	K562	blood:	n/a	n/a
10	TBL1XR1	chr8:64080252-64081312	K562	blood:	n/a	n/a
11	CHD1	chr8:64080007-64081441	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr8:64080449-64081484	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr8:64080327-64081528	GM12892	blood:	n/a	n/a
14	POLR2A	chr8:64080474-64081469	HUVEC	blood vessel:	n/a	n/a
15	TAF1	chr8:64080405-64081826	K562	blood:	n/a	n/a
16	TCF12	chr8:64080354-64081660	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr8:64080483-64081596	Gliobla	brain:	n/a	n/a
18	EP300	chr8:64080161-64081320	K562	blood:	n/a	chr8:64080800-64080809 chr8:64080803-64080812 chr8:64081169-64081183 chr8:64080798-64080807
19	POLR2A	chr8:64080481-64081667	H1-neurons	neurons:	n/a	n/a
20	SIN3A	chr8:64080237-64082198	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr8:64080402-64081487	K562	blood:	n/a	n/a
22	MAX	chr8:64080478-64081653	Hela-S3	cervix:	n/a	chr8:64081101-64081111
23	MAFK	chr8:64080173-64081262	K562	blood:	n/a	chr8:64080687-64080697
24	IRF1	chr8:64080136-64081445	K562	blood:	n/a	chr8:64081074-64081088
25	POLR2A	chr8:64080391-64081959	HL-60	blood:	n/a	n/a
26	JUND	chr8:64080370-64082302	K562	blood:	n/a	chr8:64080687-64080699 chr8:64080688-64080698
27	POLR2A	chr8:64080458-64081843	K562	blood:	n/a	n/a
28	POLR2A	chr8:64080387-64082413	Hela-S3	cervix:	n/a	n/a
29	TCF12	chr8:64080380-64081590	A549	lung:	n/a	n/a
30	POLR2A	chr8:64080429-64081421	SK-N-SH	brain:	n/a	n/a
31	YY1	chr8:64080475-64081705	A549	lung:	n/a	chr8:64081403-64081412 chr8:64081401-64081412 chr8:64081196-64081206 chr8:64080797-64080806 chr8:64081397-64081411 chr8:64081403-64081417 chr8:64081319-64081330 chr8:64081404-64081415 chr8:64080798-64080812 chr8:64081321-64081335 chr8:64080856-64080864 chr8:64081394-64081408 chr8:64081544-64081558 chr8:64081406-64081415
32	POLR2A	chr8:64080255-64081796	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr8:64080399-64081839	K562	blood:	n/a	n/a
34	POLR2A	chr8:64080431-64081627	H1-hESC	embryonic stem cell:	n/a	n/a
35	NR2F2	chr8:64080372-64081438	K562	blood:	n/a	n/a
36	GABPA	chr8:64080329-64081823	MCF-7	breast:	n/a	chr8:64081249-64081256 chr8:64081018-64081029 chr8:64081020-64081029
37	CREB1	chr8:64080435-64081636	GM12878	blood:	n/a	chr8:64081058-64081071
38	HEY1	chr8:64080475-64081862	K562	blood:	n/a	chr8:64081401-64081416 chr8:64081545-64081560 chr8:64081319-64081334 chr8:64080815-64080824 chr8:64081398-64081413
39	POLR2A	chr8:64080450-64081689	MCF-7	breast:	n/a	n/a
40	MAFF	chr8:64080285-64080842	HepG2	liver:	n/a	chr8:64080680-64080698
41	TBP	chr8:64080481-64081664	H1-hESC	embryonic stem cell:	n/a	n/a
42	SIN3AK20	chr8:64080297-64081624	MCF-7	breast:	n/a	n/a
43	MAX	chr8:64080308-64081703	A549	lung:	n/a	chr8:64081101-64081111
44	RCOR1	chr8:64080464-64081633	K562	blood:	n/a	n/a
45	USF2	chr8:64080418-64081577	GM12878	blood:	n/a	chr8:64081391-64081407 chr8:64081399-64081415 chr8:64081397-64081413 chr8:64080844-64080860 chr8:64081545-64081561 chr8:64080798-64080814 chr8:64081321-64081337 chr8:64081403-64081419
46	BRCA1	chr8:64080410-64081196	H1-hESC	embryonic stem cell:	n/a	n/a
47	TAF1	chr8:64080427-64081798	ECC-1	luminal epithelium:	n/a	n/a
48	MAFK	chr8:64080390-64081342	Hela-S3	cervix:	n/a	chr8:64080687-64080697
49	ZNF263	chr8:64080337-64081432	HEK293-T-REx	kidney:	n/a	chr8:64081108-64081117
50	POLR2A	chr8:64080391-64081535	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:100871329..100871898-chr8:64080122..64080996,2	Hela-S3	cervix:
2	chr8:64041174..64043019-chr8:64079400..64080966,2	K562	blood:
3	chr8:64078480..64080986-chr8:64100261..64102698,2	MCF-7	breast:
4	chr8:63950192..63952306-chr8:64079468..64082451,3	K562	blood:
5	chr12:112037115..112038067-chr8:64080216..64081034,2	Hela-S3	cervix:
6	chr8:62678357..62681293-chr8:64079795..64081873,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTPA-7	chr8:64080284-64081001	ENSG00000270673.1

Variant related genes	Relation type
YTHDF3	TF binding region
ENSG00000137563	Chromatin interaction
ENSG00000258099	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000251127	Chromatin interaction
ENSG00000204842	Chromatin interaction
ENSG00000245322	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10957275	0.85[EUR][1000 genomes]
rs12056447	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12542182	0.85[EUR][1000 genomes]
rs12542741	0.83[EUR][1000 genomes]
rs12547669	0.83[EUR][1000 genomes]
rs12549833	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12550222	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12550793	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12677153	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12678231	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34803356	0.83[EUR][1000 genomes]
rs3857972	0.85[EUR][1000 genomes]
rs3929126	0.85[EUR][1000 genomes]
rs4601308	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4739053	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4739066	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4739068	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61223024	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6983011	0.85[EUR][1000 genomes]
rs7000495	0.85[EUR][1000 genomes]
rs7000788	0.85[EUR][1000 genomes]
rs7000927	0.85[EUR][1000 genomes]
rs7001014	0.85[EUR][1000 genomes]
rs7011111	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73254967	0.85[EUR][1000 genomes]
rs73254968	0.85[EUR][1000 genomes]
rs73684686	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73684689	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73686707	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73686709	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9643383	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9643384	0.85[EUR][1000 genomes]
rs9643556	0.85[EUR][1000 genomes]
rs9643557	0.85[EUR][1000 genomes]
rs9643558	0.85[EUR][1000 genomes]
rs9643559	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[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	nsv465701	chr8:63951237-64080486	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv611448	chr8:63951237-64080486	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv890965	chr8:64006201-64104092	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak 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 lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv890966	chr8:64073650-64099240	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription 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 lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64079400-64080800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:64079600-64080600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:64079600-64080600	Flanking Active TSS	NH-A	brain
4	chr8:64079800-64080600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr8:64079800-64080600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:64079800-64080600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr8:64079800-64080600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:64079800-64080600	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr8:64079800-64080600	Flanking Active TSS	Brain Cingulate Gyrus	brain
10	chr8:64079800-64080600	Flanking Active TSS	Rectal Smooth Muscle	rectum
11	chr8:64079800-64080600	Flanking Active TSS	HUVEC	blood vessel
12	chr8:64079800-64080600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr8:64079800-64080800	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr8:64079800-64081200	Active TSS	Brain Germinal Matrix	brain
15	chr8:64079800-64081800	Active TSS	Fetal Brain Male	brain
16	chr8:64079800-64082000	Active TSS	Fetal Kidney	kidney
17	chr8:64079800-64082400	Active TSS	Colonic Mucosa	Colon
18	chr8:64079800-64082600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:64080000-64080600	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr8:64080000-64080600	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr8:64080000-64080600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:64080000-64080600	Flanking Active TSS	Liver	Liver
23	chr8:64080000-64080600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr8:64080000-64080800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr8:64080000-64080800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:64080000-64082200	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr8:64080000-64082200	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr8:64080000-64082200	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr8:64080000-64082200	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr8:64080000-64082400	Active TSS	HSMM	muscle
31	chr8:64080000-64082600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr8:64080000-64082600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:64080000-64082600	Active TSS	Fetal Muscle Trunk	muscle
34	chr8:64080000-64082600	Active TSS	Fetal Stomach	stomach
35	chr8:64080000-64082800	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr8:64080000-64082800	Active TSS	H1 Cell Line	embryonic stem cell
37	chr8:64080000-64082800	Active TSS	A549	lung
38	chr8:64080000-64083200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:64080000-64083200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:64080000-64083200	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr8:64080000-64083200	Active TSS	HSMMtube	muscle
42	chr8:64080000-64083200	Active TSS	K562	blood
43	chr8:64080000-64083400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:64080000-64083400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:64080000-64083400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:64080000-64083800	Active TSS	GM12878-XiMat	blood
47	chr8:64080000-64084200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:64080200-64080600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr8:64080200-64080600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr8:64080200-64080600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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