Variant report

Variant	rs73281548
Chromosome Location	chr7:26236778-26236779
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:26231477-26237614	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:26234765-26237399	HepG2	liver:	n/a	n/a
3	WRNIP1	chr7:26236628-26237108	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:26221696-26237480	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:26234743-26243058	K562	blood:	n/a	n/a
6	POLR2A	chr7:26225813-26242266	Hela-S3	cervix:	n/a	n/a
7	TAF7	chr7:26236676-26237633	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr7:26234771-26237585	U87	brain:	n/a	n/a
9	CHD1	chr7:26235855-26242752	GM12878	blood:	n/a	n/a
10	HEY1	chr7:26235885-26237530	K562	blood:	n/a	n/a
11	STAT1	chr7:26236747-26237436	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:26236324-26237510	GM12892	blood:	n/a	n/a
13	ATF2	chr7:26236394-26237018	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr7:26231544-26237489	GM12892	blood:	n/a	n/a
15	POLR2A	chr7:26236233-26236795	HepG2	liver:	n/a	n/a
16	POLR2A	chr7:26235894-26236784	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr7:26236346-26237382	HCT-116	colon:	n/a	n/a
18	POLR2A	chr7:26217417-26242495	GM12878	blood:	n/a	n/a
19	BHLHE40	chr7:26236629-26237507	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:26235879-26237147	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr7:26229791-26237535	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:26235871-26237082	K562	blood:	n/a	n/a
23	POLR2A	chr7:26236343-26237346	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr7:26236318-26237092	GM12891	blood:	n/a	n/a
25	POLR2A	chr7:26233946-26237633	SK-N-SH	brain:	n/a	n/a
26	MXI1	chr7:26236746-26242422	K562	blood:	n/a	n/a
27	BCLAF1	chr7:26236532-26237586	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:26235857-26241978	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr7:26219147-26241658	K562	blood:	n/a	n/a
30	POLR2A	chr7:26222589-26243037	K562	blood:	n/a	n/a
31	POLR2A	chr7:26234765-26237545	PANC-1	pancreas:	n/a	n/a
32	POLR2A	chr7:26236764-26237453	PFSK-1	brain:	n/a	n/a
33	SP1	chr7:26235821-26237122	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAFF	chr7:26236761-26237216	K562	blood:	n/a	n/a
35	POLR2A	chr7:26235298-26237270	GM12892	blood:	n/a	n/a
36	POLR2A	chr7:26221760-26237544	A549	lung:	n/a	n/a
37	POLR2A	chr7:26225919-26237367	K562	blood:	n/a	n/a
38	POLR2A	chr7:26217906-26237432	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr7:26236533-26237506	HepG2	liver:	n/a	n/a
40	POLR2A	chr7:26234641-26237639	U87	brain:	n/a	n/a
41	POLR2A	chr7:26236514-26237097	K562	blood:	n/a	n/a
42	POLR2A	chr7:26235328-26237462	GM12891	blood:	n/a	n/a
43	POLR2A	chr7:26221714-26237502	GM18505	blood:	n/a	n/a
44	HEY1	chr7:26236494-26237079	HepG2	liver:	n/a	n/a
45	POLR2A	chr7:26236520-26237439	GM12892	blood:	n/a	n/a
46	MXI1	chr7:26234540-26244604	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr7:26235430-26237397	K562	blood:	n/a	n/a
48	POLR2A	chr7:26225898-26242757	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr7:26235411-26237583	H1-hESC	embryonic stem cell:	n/a	n/a
50	MXI1	chr7:26235358-26237607	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:140027177..140027681-chr7:26236438..26236984,2	Hela-S3	cervix:
2	chr1:52344156..52345149-chr7:26236149..26237089,2	Hela-S3	cervix:
3	chr7:26172376..26175149-chr7:26236587..26238736,2	MCF-7	breast:
4	chr7:26191444..26193489-chr7:26235586..26237855,2	K562	blood:

No data

Variant related genes	Relation type
HNRNPA2B1	TF binding region
CBX3	TF binding region
ENSG00000113141	Chromatin interaction
ENSG00000050344	Chromatin interaction
ENSG00000131495	Chromatin interaction
ENSG00000078618	Chromatin interaction
ENSG00000264052	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11971108	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971320	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971402	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11972057	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974685	1.00[ASN][1000 genomes]
rs11975011	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11976883	0.84[EUR][1000 genomes]
rs11977822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17321514	1.00[ASN][1000 genomes]
rs28409739	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41275982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55754901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55813103	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56021640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56132015	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56273868	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56276467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56287413	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56376224	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56393994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56413126	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59142558	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59371106	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59685141	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59820708	1.00[ASN][1000 genomes]
rs60411547	1.00[AMR][1000 genomes]
rs60954252	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61009175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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]
rs73281517	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281550	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281551	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281562	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281578	0.89[EUR][1000 genomes]
rs73281586	0.89[EUR][1000 genomes]
rs73281591	0.89[EUR][1000 genomes]
rs7793815	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793849	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794205	1.00[ASN][1000 genomes]
rs7798249	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7803860	1.00[ASN][1000 genomes]
rs7807030	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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
2	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
3	nsv887850	chr7:26236235-26244365	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
4	nsv887851	chr7:26236235-26248965	Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26224800-26236800	Strong transcription	HSMMtube	muscle
2	chr7:26228200-26236800	Strong transcription	H9 Cell Line	embryonic stem cell
3	chr7:26228200-26236800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:26230200-26237200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
5	chr7:26230400-26236800	Genic enhancers	Liver	Liver
6	chr7:26230600-26236800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:26231600-26236800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:26231600-26236800	Genic enhancers	Brain Substantia Nigra	brain
9	chr7:26231600-26239600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
10	chr7:26231800-26236800	Genic enhancers	Primary B cells from peripheral blood	blood
11	chr7:26231800-26239600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:26232000-26236800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:26232000-26236800	Genic enhancers	Brain Angular Gyrus	brain
14	chr7:26232000-26237600	Genic enhancers	Fetal Heart	heart
15	chr7:26232200-26236800	Genic enhancers	Brain Hippocampus Middle	brain
16	chr7:26232200-26236800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr7:26232200-26237000	Genic enhancers	Fetal Intestine Large	intestine
18	chr7:26232200-26237200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
19	chr7:26232400-26236800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
20	chr7:26232400-26237400	Transcr. at gene 5' and 3'	A549	lung
21	chr7:26233200-26239600	Transcr. at gene 5' and 3'	Dnd41	blood
22	chr7:26233400-26237200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
23	chr7:26233400-26242800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:26233800-26236800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:26234000-26236800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:26234000-26237600	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:26234200-26240400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
28	chr7:26234400-26236800	Genic enhancers	Fetal Lung	lung
29	chr7:26234400-26237600	Strong transcription	Placenta	Placenta
30	chr7:26234400-26238000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:26234600-26236800	Genic enhancers	Fetal Kidney	kidney
32	chr7:26234600-26236800	Weak transcription	Pancreas	Pancrea
33	chr7:26234600-26237400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr7:26234600-26238200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:26234600-26238200	Weak transcription	Gastric	stomach
36	chr7:26234800-26237200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
37	chr7:26234800-26237400	Transcr. at gene 5' and 3'	NHLF	lung
38	chr7:26234800-26237600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:26234800-26237600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:26234800-26239200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
41	chr7:26234800-26239400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
42	chr7:26234800-26239400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:26234800-26240000	Active TSS	Right Atrium	heart
44	chr7:26234800-26240200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
45	chr7:26235000-26237200	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
46	chr7:26235000-26237200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:26235000-26237400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
48	chr7:26235000-26237400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:26235000-26237400	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
50	chr7:26235000-26237400	Transcr. at gene 5' and 3'	HMEC	breast

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