Variant report

Variant	rs73566435
Chromosome Location	chr13:79981210-79981211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr13:79980194-79981211	K562	blood:	n/a	n/a
2	MXI1	chr13:79979853-79981293	GM12878	blood:	n/a	n/a
3	POLR2A	chr13:79979195-79981340	GM12878	blood:	n/a	n/a
4	POLR2A	chr13:79979031-79981704	HepG2	liver:	n/a	n/a
5	POLR2A	chr13:79981172-79981557	HepG2	liver:	n/a	n/a
6	POLR2A	chr13:79976521-79982167	GM12891	blood:	n/a	n/a
7	ARID3A	chr13:79981092-79981296	HepG2	liver:	n/a	n/a
8	MYC	chr13:79979099-79981606	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr13:79979425-79981742	PBDE	blood:	n/a	n/a
10	POLR2A	chr13:79979168-79982244	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr13:79980150-79981314	HepG2	liver:	n/a	n/a
12	ZMIZ1	chr13:79980132-79981310	K562	blood:	n/a	n/a
13	POLR2A	chr13:79979516-79981367	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr13:79978483-79982627	MCF10A-Er-Src	breast:	n/a	n/a
15	MAX	chr13:79979203-79981587	NB4	blood:	n/a	n/a
16	POLR2A	chr13:79979224-79981556	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr13:79981174-79981313	HUVEC	blood vessel:	n/a	n/a
18	BRCA1	chr13:79979138-79981564	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr13:79979216-79981687	Raji	blood:	n/a	n/a
20	POLR2A	chr13:79980131-79984465	K562	blood:	n/a	n/a
21	CHD1	chr13:79979149-79981212	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr13:79979691-79982079	K562	blood:	n/a	n/a
23	IRF1	chr13:79981208-79981891	K562	blood:	n/a	chr13:79981779-79981792
24	POLR2A	chr13:79979427-79981688	U87	brain:	n/a	n/a
25	POLR2A	chr13:79979214-79981357	GM19193	blood:	n/a	n/a
26	POLR2A	chr13:79979188-79982271	Hela-S3	cervix:	n/a	n/a
27	TBP	chr13:79980180-79981357	GM12878	blood:	n/a	n/a
28	POLR2A	chr13:79979158-79982018	GM12878	blood:	n/a	n/a
29	ARID3A	chr13:79980232-79981650	K562	blood:	n/a	chr13:79980376-79980391
30	REST	chr13:79979260-79981226	H1-neurons	neurons:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:79980450..79981962-chr13:80054323..80056011,2	K562	blood:
2	chr13:79980707..79982787-chr13:79986192..79988065,2	MCF-7	breast:
3	chr13:79979196..79982246-chr13:80054691..80057070,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDFIP2-2	chr13:79980499-79981230	ENSG00000227354.2

No data

Variant related genes	Relation type
RBM26	TF binding region
ENSG00000232132	Chromatin interaction
ENSG00000102471	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1410334	0.85[EUR][1000 genomes]
rs1410335	0.85[EUR][1000 genomes]
rs17071385	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071415	1.00[EUR][1000 genomes]
rs17071499	0.80[EUR][1000 genomes]
rs41288268	0.80[EUR][1000 genomes]
rs57544957	1.00[EUR][1000 genomes]
rs58056613	0.84[EUR][1000 genomes]
rs59755477	0.84[EUR][1000 genomes]
rs59773478	1.00[EUR][1000 genomes]
rs6563107	1.00[EUR][1000 genomes]
rs7318984	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7329633	0.88[EUR][1000 genomes]
rs7330804	0.88[EUR][1000 genomes]
rs73548951	0.80[EUR][1000 genomes]
rs73548955	0.80[EUR][1000 genomes]
rs73551558	0.80[EUR][1000 genomes]
rs73564681	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73566422	1.00[EUR][1000 genomes]
rs73566424	1.00[EUR][1000 genomes]
rs73566454	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73566469	0.96[EUR][1000 genomes]
rs7491258	0.80[EUR][1000 genomes]
rs7984159	0.80[EUR][1000 genomes]
rs7985697	0.80[EUR][1000 genomes]
rs7992181	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7997554	0.84[EUR][1000 genomes]
rs8000870	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79976200-79981600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:79976600-79981600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:79977000-79981400	Active TSS	GM12878-XiMat	blood
4	chr13:79977400-79981400	Active TSS	H1 Cell Line	embryonic stem cell
5	chr13:79978000-79981400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr13:79978000-79981600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:79978000-79981600	Active TSS	Colonic Mucosa	Colon
8	chr13:79978200-79981600	Active TSS	A549	lung
9	chr13:79978400-79981600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr13:79978400-79981600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:79978600-79981400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr13:79978600-79981400	Active TSS	NHLF	lung
13	chr13:79978800-79981400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:79978800-79981400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr13:79978800-79981400	Active TSS	Psoas Muscle	Psoas
16	chr13:79978800-79981800	Active TSS	K562	blood
17	chr13:79979000-79981400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:79979000-79981400	Active TSS	Brain Angular Gyrus	brain
19	chr13:79979000-79981600	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr13:79979400-79981400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr13:79979400-79981400	Active TSS	Fetal Thymus	thymus
22	chr13:79980600-79981400	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr13:79980600-79981400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr13:79980600-79981400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr13:79980600-79981400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:79980600-79981400	Flanking Active TSS	HUVEC	blood vessel
27	chr13:79980600-79981600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr13:79980600-79981600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr13:79980800-79981400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr13:79980800-79981400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr13:79980800-79981400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr13:79980800-79981400	Flanking Active TSS	Liver	Liver
33	chr13:79980800-79981400	Active TSS	Right Atrium	heart
34	chr13:79980800-79981400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr13:79980800-79981400	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr13:79980800-79981400	Flanking Active TSS	NH-A	brain
37	chr13:79980800-79981400	Flanking Active TSS	NHDF-Ad	bronchial
38	chr13:79980800-79981600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr13:79980800-79981600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr13:79980800-79981600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr13:79980800-79981600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr13:79980800-79981600	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr13:79980800-79982000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr13:79980800-80007200	Weak transcription	Spleen	Spleen
45	chr13:79981000-79981400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr13:79981000-79981400	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr13:79981000-79981400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr13:79981000-79981400	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr13:79981000-79981400	Flanking Active TSS	Fetal Brain Female	brain
50	chr13:79981000-79981400	Flanking Active TSS	Fetal Heart	heart

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