Variant report

Variant	rs73266490
Chromosome Location	chr8:96280742-96280743
allele	C/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	SIN3A	chr8:96280710-96282538	H1-hESC	embryonic stem cell:	n/a	chr8:96281619-96281627 chr8:96281191-96281202
2	POLR2A	chr8:96280639-96282505	MCF-7	breast:	n/a	n/a
3	POLR2A	chr8:96280733-96282556	GM19099	blood:	n/a	n/a
4	RCOR1	chr8:96280601-96280940	K562	blood:	n/a	n/a
5	POLR2A	chr8:96280729-96282519	GM18526	blood:	n/a	n/a
6	MAZ	chr8:96280405-96282448	Hela-S3	cervix:	n/a	chr8:96281719-96281735 chr8:96281141-96281150 chr8:96281536-96281545
7	TBL1XR1	chr8:96280728-96280777	K562	blood:	n/a	n/a
8	MAX	chr8:96280696-96282275	H1-hESC	embryonic stem cell:	n/a	chr8:96281719-96281735 chr8:96281141-96281150 chr8:96281536-96281545
9	HA-E2F1	chr8:96280562-96282388	MCF-7	breast:	n/a	chr8:96282082-96282091 chr8:96281518-96281527
10	POLR2A	chr8:96280732-96280983	A549	lung:	n/a	n/a
11	EGR1	chr8:96280712-96281079	K562	blood:	n/a	chr8:96281032-96281056
12	EGR1	chr8:96280686-96280974	K562	blood:	n/a	n/a
13	CEBPB	chr8:96280405-96280793	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr8:96280710-96282469	U87	brain:	n/a	n/a
15	TBP	chr8:96280709-96282768	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr8:96280679-96282501	GM12892	blood:	n/a	n/a
17	POLR2A	chr8:96280701-96282663	K562	blood:	n/a	n/a
18	CEBPB	chr8:96280425-96280775	K562	blood:	n/a	n/a
19	POLR2A	chr8:96280589-96282721	K562	blood:	n/a	n/a
20	RELA	chr8:96280741-96282560	GM18951	blood:	n/a	n/a
21	POLR2A	chr8:96280737-96280972	A549	lung:	n/a	n/a
22	EP300	chr8:96280663-96280807	HepG2	liver:	n/a	n/a
23	POLR2A	chr8:96280689-96282521	Hela-S3	cervix:	n/a	n/a
24	JUND	chr8:96280698-96283117	K562	blood:	n/a	n/a
25	POLR2A	chr8:96280373-96282594	HepG2	liver:	n/a	n/a
26	CEBPD	chr8:96280710-96280973	HepG2	liver:	n/a	n/a
27	GTF2F1	chr8:96280728-96282703	Hela-S3	cervix:	n/a	n/a
28	ELF1	chr8:96280639-96282725	MCF-7	breast:	n/a	chr8:96281105-96281114 chr8:96280967-96280979
29	POLR2A	chr8:96280581-96282529	GM12878	blood:	n/a	n/a
30	POLR2A	chr8:96280718-96282591	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr8:96280733-96282754	K562	blood:	n/a	n/a
32	RCOR1	chr8:96280551-96280836	HepG2	liver:	n/a	n/a
33	POLR2A	chr8:96280707-96280966	K562	blood:	n/a	n/a
34	POLR2A	chr8:96280724-96282753	GM12891	blood:	n/a	n/a
35	POLR2A	chr8:96280719-96280965	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr8:96280711-96282691	GM12878	blood:	n/a	n/a
37	POLR2A	chr8:96280696-96282450	GM19193	blood:	n/a	n/a
38	PML	chr8:96280590-96282631	GM12878	blood:	n/a	n/a
39	CEBPB	chr8:96280417-96282718	Hela-S3	cervix:	n/a	chr8:96282246-96282257 chr8:96282248-96282259
40	BHLHE40	chr8:96280360-96282828	K562	blood:	n/a	n/a
41	SP1	chr8:96280571-96282547	A549	lung:	n/a	chr8:96281045-96281054 chr8:96281041-96281055 chr8:96281044-96281056 chr8:96281045-96281055 chr8:96281044-96281056
42	TAF1	chr8:96280694-96280957	Hela-S3	cervix:	n/a	n/a
43	TAF1	chr8:96280684-96282516	ECC-1	luminal epithelium:	n/a	n/a
44	MAX	chr8:96280706-96282877	A549	lung:	n/a	chr8:96281719-96281735 chr8:96281141-96281150 chr8:96281536-96281545
45	MAFK	chr8:96280416-96282374	Hela-S3	cervix:	n/a	chr8:96281869-96281880 chr8:96282100-96282111 chr8:96281869-96281880
46	POLR2A	chr8:96280731-96280974	ECC-1	luminal epithelium:	n/a	n/a
47	MYC	chr8:96280562-96282749	K562	blood:	n/a	chr8:96281719-96281735 chr8:96281141-96281150 chr8:96281536-96281545
48	SMC3	chr8:96280671-96282565	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr8:96280667-96282847	SK-N-MC	brain:	n/a	n/a
50	POLR2A	chr8:96280723-96281993	GM10847	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:54909734..54911738-chr8:96280729..96282427,2	MCF-7	breast:
2	chr8:96111950..96115004-chr8:96279819..96283605,3	MCF-7	breast:
3	chr8:95651016..95653604-chr8:96280429..96282986,2	MCF-7	breast:
4	chr8:95907099..95910081-chr8:96279389..96285203,6	K562	blood:
5	chr8:96144909..96147734-chr8:96280323..96283069,4	K562	blood:
6	chr8:96115025..96117970-chr8:96278759..96280968,3	MCF-7	breast:
7	chr8:95835507..95837268-chr8:96280531..96283343,2	MCF-7	breast:
8	chr8:95907501..95911346-chr8:96279945..96283030,5	MCF-7	breast:
9	chr8:96098333..96100158-chr8:96278509..96280957,2	MCF-7	breast:
10	chr8:96267958..96270319-chr8:96278452..96280953,2	K562	blood:
11	chr8:95906455..95910081-chr8:96279389..96281894,5	K562	blood:
12	chr8:96044471..96047276-chr8:96280162..96282608,2	MCF-7	breast:
13	chr8:96082478..96088281-chr8:96279501..96283230,8	MCF-7	breast:
14	chr8:96143208..96147491-chr8:96279441..96282856,8	MCF-7	breast:
15	chr8:96142341..96149648-chr8:96278644..96282772,12	MCF-7	breast:
16	chr8:96279721..96282098-chr8:97246962..97249259,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253773	TF binding region
ENSG00000153933	Chromatin interaction
ENSG00000104413	Chromatin interaction
ENSG00000156467	Chromatin interaction
ENSG00000254248	Chromatin interaction
ENSG00000261437	Chromatin interaction
ENSG00000214226	Chromatin interaction
ENSG00000254224	Chromatin interaction
ENSG00000245080	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000164941	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000175895	Chromatin interaction

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

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

rs_ID	r²[population]
rs13260234	1.00[ASN][1000 genomes]
rs13267037	1.00[ASN][1000 genomes]
rs13267333	1.00[ASN][1000 genomes]
rs13267612	1.00[ASN][1000 genomes]
rs13271205	1.00[ASN][1000 genomes]
rs13276926	1.00[ASN][1000 genomes]
rs1994794	1.00[ASN][1000 genomes]
rs34196697	1.00[ASN][1000 genomes]
rs34289076	1.00[ASN][1000 genomes]
rs34389602	1.00[ASN][1000 genomes]
rs34463279	1.00[ASN][1000 genomes]
rs34861861	1.00[ASN][1000 genomes]
rs34962193	1.00[ASN][1000 genomes]
rs35141355	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35175236	1.00[ASN][1000 genomes]
rs35195888	1.00[ASN][1000 genomes]
rs35273564	1.00[ASN][1000 genomes]
rs35511040	1.00[ASN][1000 genomes]
rs35530445	1.00[ASN][1000 genomes]
rs35543354	1.00[ASN][1000 genomes]
rs35559164	1.00[ASN][1000 genomes]
rs35809593	1.00[ASN][1000 genomes]
rs36032317	1.00[ASN][1000 genomes]
rs36096184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55677759	1.00[ASN][1000 genomes]
rs56186143	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56237137	1.00[ASN][1000 genomes]
rs57183551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58191899	1.00[ASN][1000 genomes]
rs58229316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58471124	1.00[ASN][1000 genomes]
rs58979833	1.00[ASN][1000 genomes]
rs59707579	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60835162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61185934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61730929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61730932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61997199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471526	1.00[ASN][1000 genomes]
rs7004873	1.00[ASN][1000 genomes]
rs71532351	1.00[ASN][1000 genomes]
rs71532352	1.00[ASN][1000 genomes]
rs71532353	1.00[ASN][1000 genomes]
rs73268303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73268328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695429	1.00[ASN][1000 genomes]
rs73695431	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695432	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695433	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695435	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695436	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695437	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695438	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695439	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814173	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815085	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894149	1.00[ASN][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	nsv1023866	chr8:96273255-96306378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr8:96249000-96280800	Weak transcription	Gastric	stomach
2	chr8:96280000-96282400	Active TSS	Brain Angular Gyrus	brain
3	chr8:96280200-96281000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:96280200-96281000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr8:96280200-96282800	Active TSS	Brain Germinal Matrix	brain
6	chr8:96280400-96280800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr8:96280400-96280800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr8:96280400-96280800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:96280400-96280800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:96280400-96280800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:96280400-96280800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr8:96280400-96280800	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr8:96280400-96280800	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr8:96280400-96280800	Flanking Active TSS	Colonic Mucosa	Colon
15	chr8:96280400-96280800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr8:96280400-96280800	Flanking Active TSS	Fetal Brain Male	brain
17	chr8:96280400-96280800	Flanking Active TSS	Placenta	Placenta
18	chr8:96280400-96280800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr8:96280400-96280800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr8:96280400-96280800	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr8:96280400-96280800	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr8:96280400-96280800	Flanking Active TSS	Thymus	Thymus
23	chr8:96280400-96280800	Flanking Active TSS	GM12878-XiMat	blood
24	chr8:96280400-96280800	Flanking Active TSS	Hela-S3	cervix
25	chr8:96280400-96280800	Flanking Active TSS	K562	blood
26	chr8:96280400-96281000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr8:96280400-96281000	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr8:96280400-96281000	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr8:96280400-96281000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr8:96280400-96281000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:96280400-96281000	Flanking Active TSS	Liver	Liver
32	chr8:96280400-96281000	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr8:96280400-96281000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr8:96280400-96281000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr8:96280400-96281000	Enhancers	Spleen	Spleen
36	chr8:96280400-96281000	Flanking Active TSS	Dnd41	blood
37	chr8:96280400-96281200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr8:96280400-96281400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:96280400-96282400	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr8:96280400-96282400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:96280400-96282400	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr8:96280400-96282400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:96280400-96282400	Active TSS	Fetal Brain Female	brain
44	chr8:96280400-96282400	Active TSS	HUVEC	blood vessel
45	chr8:96280400-96282400	Active TSS	NHLF	lung
46	chr8:96280400-96282600	Active TSS	Duodenum Mucosa	Duodenum
47	chr8:96280400-96282600	Active TSS	Fetal Heart	heart
48	chr8:96280400-96282600	Active TSS	HMEC	breast
49	chr8:96280400-96282800	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr8:96280400-96282800	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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