Variant report

Variant	rs73281517
Chromosome Location	chr7:26219274-26219275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:26219013-26219514	U87	brain:	n/a	n/a
2	POLR2A	chr7:26219108-26220330	GM12891	blood:	n/a	n/a
3	POLR2A	chr7:26217202-26221364	HepG2	liver:	n/a	n/a
4	FOSL2	chr7:26219270-26220070	HepG2	liver:	n/a	chr7:26220030-26220042
5	POLR2A	chr7:26219103-26220854	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr7:26217795-26225797	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr7:26219164-26220678	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr7:26219119-26219290	HepG2	liver:	n/a	n/a
9	BCL3	chr7:26217644-26229718	A549	lung:	n/a	chr7:26226946-26226953 chr7:26220505-26220512 chr7:26220601-26220614
10	POLR2A	chr7:26219060-26220058	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr7:26218667-26220021	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:26219001-26219756	K562	blood:	n/a	n/a
13	POLR2A	chr7:26219135-26219296	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr7:26219131-26225818	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr7:26219125-26219963	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:26217201-26229557	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr7:26219207-26220108	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr7:26217417-26242495	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:26217935-26221267	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr7:26217499-26221107	GM12891	blood:	n/a	n/a
21	POLR2A	chr7:26219118-26221430	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr7:26219141-26220789	IMR90	lung:	n/a	n/a
23	POLR2A	chr7:26219081-26219349	A549	lung:	n/a	n/a
24	POLR2A	chr7:26219147-26241658	K562	blood:	n/a	n/a
25	POLR2A	chr7:26217945-26221519	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chr7:26219145-26219289	A549	lung:	n/a	n/a
27	MBD4	chr7:26219244-26220119	HepG2	liver:	n/a	n/a
28	POLR2A	chr7:26217872-26221308	GM12878	blood:	n/a	n/a
29	POLR2A	chr7:26219225-26220764	GM18505	blood:	n/a	n/a
30	POLR2A	chr7:26217906-26237432	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr7:26217891-26221430	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:26217898-26221429	GM12891	blood:	n/a	n/a
33	POLR2A	chr7:26219139-26219443	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:26219154-26220837	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr7:26219007-26220566	U87	brain:	n/a	n/a
36	POLR2A	chr7:26219142-26220721	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr7:26217736-26221308	A549	lung:	n/a	n/a
38	POLR2A	chr7:26219247-26219723	HepG2	liver:	n/a	n/a
39	POLR2A	chr7:26219065-26221191	GM12891	blood:	n/a	n/a
40	POLR2A	chr7:26217892-26221273	GM12891	blood:	n/a	n/a
41	POLR2A	chr7:26218601-26221525	K562	blood:	n/a	n/a
42	POLR2A	chr7:26217173-26230412	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr7:26219224-26219979	H1-neurons	neurons:	n/a	n/a
44	POLR2A	chr7:26219258-26219927	GM12892	blood:	n/a	n/a
45	POLR2A	chr7:26217957-26237490	MCF-7	breast:	n/a	n/a
46	POLR2A	chr7:26219161-26219333	A549	lung:	n/a	n/a
47	POLR2A	chr7:26217018-26234482	HepG2	liver:	n/a	n/a
48	POLR2A	chr7:26217778-26221284	GM12878	blood:	n/a	n/a
49	BCL3	chr7:26219133-26220180	A549	lung:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26217885..26219634-chr7:26219672..26221889,2	MCF-7	breast:
2	chr7:26209588..26214635-chr7:26216506..26225474,18	K562	blood:
3	chr7:26187762..26202698-chr7:26218693..26233402,42	K562	blood:
4	chr7:26218241..26220346-chr7:26316988..26319565,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000273237	TF binding region
NFE2L3	TF binding region
ENSG00000050344	Chromatin interaction
ENSG00000273237	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11971108	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971308	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971320	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971402	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11972057	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974685	1.00[ASN][1000 genomes]
rs11975011	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11976883	0.81[EUR][1000 genomes]
rs11977822	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980825	1.00[ASN][1000 genomes]
rs17321514	1.00[ASN][1000 genomes]
rs28409739	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41275982	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55754901	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55813103	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56021640	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56132015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56273868	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56276467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56287413	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56376224	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56393994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56413126	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57188228	1.00[ASN][1000 genomes]
rs57665417	1.00[ASN][1000 genomes]
rs59142558	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59344953	1.00[ASN][1000 genomes]
rs59371106	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59685141	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59820708	1.00[ASN][1000 genomes]
rs60411547	1.00[AMR][1000 genomes]
rs60954252	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61009175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61405107	1.00[ASN][1000 genomes]
rs6948113	1.00[ASN][1000 genomes]
rs73279689	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73279692	1.00[ASN][1000 genomes]
rs73281521	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281523	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281527	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281529	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281530	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281538	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281546	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281548	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281550	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281551	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281554	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281562	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281563	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281570	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281578	0.86[EUR][1000 genomes]
rs73281586	0.86[EUR][1000 genomes]
rs73281591	0.86[EUR][1000 genomes]
rs7793815	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793849	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794205	1.00[ASN][1000 genomes]
rs7798249	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7803860	1.00[ASN][1000 genomes]
rs7807030	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606432	chr7:25988185-26223294	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
2	nsv887849	chr7:26075094-26234302	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv1034358	chr7:26142380-26219559	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
6	esv3477158	chr7:26218731-26221448	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3477159	chr7:26218731-26221448	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26196600-26222000	Weak transcription	Left Ventricle	heart
2	chr7:26198800-26222000	Weak transcription	Spleen	Spleen
3	chr7:26199400-26222000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:26199400-26230200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:26200000-26227200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:26206600-26219600	Weak transcription	K562	blood
7	chr7:26206600-26220600	Weak transcription	Right Atrium	heart
8	chr7:26206600-26227600	Weak transcription	Esophagus	oesophagus
9	chr7:26206800-26226000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:26207000-26220200	Weak transcription	Right Ventricle	heart
11	chr7:26207000-26226800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:26207000-26227400	Weak transcription	Gastric	stomach
13	chr7:26207000-26227600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:26207000-26228000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr7:26207200-26224600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:26207200-26227000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:26207200-26228200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:26207400-26219800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr7:26207400-26221800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:26207400-26224800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:26207400-26227800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:26207600-26227000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr7:26207600-26227400	Weak transcription	Primary T cells from cord blood	blood
24	chr7:26207800-26223200	Weak transcription	Fetal Thymus	thymus
25	chr7:26208000-26226000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:26208000-26227400	Weak transcription	Brain Substantia Nigra	brain
27	chr7:26208600-26222400	Weak transcription	Lung	lung
28	chr7:26208800-26227600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:26209000-26222000	Weak transcription	Placenta	Placenta
30	chr7:26209200-26226000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:26209600-26219600	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:26210200-26227000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:26210200-26227000	Weak transcription	Small Intestine	intestine
34	chr7:26210400-26222000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr7:26210800-26223800	Weak transcription	GM12878-XiMat	blood
36	chr7:26210800-26224800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr7:26210800-26226000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:26211000-26220000	Weak transcription	A549	lung
39	chr7:26211000-26226000	Weak transcription	Thymus	Thymus
40	chr7:26211400-26222000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:26211600-26224600	Weak transcription	Psoas Muscle	Psoas
42	chr7:26212200-26227400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:26213800-26223800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:26213800-26228400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr7:26214400-26228200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr7:26215600-26228800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr7:26217200-26219400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:26217200-26228000	Weak transcription	Fetal Brain Male	brain
49	chr7:26217400-26220800	Weak transcription	Fetal Intestine Large	intestine
50	chr7:26217400-26234800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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