Variant report

Variant	rs9587980
Chromosome Location	chr13:110412189-110412190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:110412100-110412242	A549	lung:	n/a	n/a
2	POLR2A	chr13:110411042-110415828	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr13:110412044-110412268	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr13:110411291-110412261	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr13:110410811-110413523	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr13:110411206-110413864	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr13:110411265-110412274	A549	lung:	n/a	n/a
8	POLR2A	chr13:110412080-110412269	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:110412178-110412228	NB4	blood:	n/a
2	chr13:110412178-110412228	SKMC	muscle:	n/a
3	chr13:110412178-110412228	HRPEpiC	eye:	n/a
4	chr13:110412178-110412228	MCF-7	breast:	n/a
5	chr13:110412178-110412228	ovcar-3	ovarian:	n/a
6	chr13:110412178-110412228	HL-60	blood:	n/a
7	chr13:110412178-110412228	U87	brain:	n/a
8	chr13:110412178-110412228	ECC-1	luminal epithelium:	n/a
9	chr13:110412178-110412228	HEK293	kidney:	embryo
10	chr13:110412178-110412228	Hela-S3	cervix:	n/a
11	chr13:110412178-110412228	AG04449	skin:	fetal
12	chr13:110412178-110412228	PrEC	prostate:	n/a
13	chr13:110412178-110412228	AG04450	lung:	fetal
14	chr13:110412178-110412228	RPTEC	kidney:	n/a
15	chr13:110412178-110412228	Hepatocyte	liver:	n/a
16	chr13:110412178-110412228	BE2_C	brain:	n/a
17	chr13:110412178-110412228	GM12892	blood:	n/a
18	chr13:110412178-110412228	NHDF-neo	bronchial:	n/a
19	chr13:110412178-110412228	AG09319	gingival:	n/a
20	chr13:110412178-110412228	SK-N-MC	brain:	n/a
21	chr13:110412178-110412228	Caco-2	colon:	n/a
22	chr13:110412178-110412228	HIPEpiC	eye:	n/a
23	chr13:110412178-110412228	Jurkat	blood:	n/a
24	chr13:110412178-110412228	GM12878	blood:	n/a
25	chr13:110412178-110412228	T-47D	breast:	n/a
26	chr13:110412178-110412228	HAEpiC	amniotic membrane:	n/a
27	chr13:110412178-110412228	CMK	blood:	n/a
28	chr13:110412178-110412228	HCT-116	colon:	n/a
29	chr13:110412178-110412228	HPAEpiC	pulmonary alveolar:	n/a
30	chr13:110412178-110412228	AoSMC	blood vessel:	n/a
31	chr13:110412178-110412228	NT2-D1	testis:	n/a
32	chr13:110412178-110412228	HNPCEpiC	eye:	n/a
33	chr13:110412178-110412228	HMEC	breast:	n/a
34	chr13:110412178-110412228	MCF10A-Er-Src	breast:	n/a
35	chr13:110412178-110412228	A549	lung:	n/a
36	chr13:110412178-110412228	ProgFib	skin:	n/a
37	chr13:110412178-110412228	AG10803	skin:	n/a
38	chr13:110412178-110412228	SK-N-SH	brain:	n/a
39	chr13:110412178-110412228	PFSK-1	brain:	n/a
40	chr13:110412178-110412228	SAEC	small airway:	n/a
41	chr13:110412178-110412228	BJ	skin:	n/a
42	chr13:110412178-110412228	HEEpiC	esophagus:	n/a
43	chr13:110412178-110412228	AG09309	skin:	n/a
44	chr13:110412178-110412228	HCM	heart:	n/a
45	chr13:110412178-110412228	SK-N-SH_RA	brain:	n/a
46	chr13:110412178-110412228	HepG2	liver:	n/a
47	chr13:110412178-110412228	GM06990	blood:	n/a
48	chr13:110412178-110412228	GM12891	blood:	n/a
49	chr13:110412178-110412228	PANC-1	pancreas:	n/a
50	chr13:110412178-110412228	GM19239	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:110410515..110416415-chr13:110436559..110440960,7	K562	blood:
2	chr13:110411444..110413662-chr13:110413708..110416940,3	K562	blood:
3	chr13:110410426..110416204-chr13:110437300..110441341,7	K562	blood:
4	chr13:110401184..110404328-chr13:110411393..110413977,3	K562	blood:
5	chr13:110399706..110404328-chr13:110411393..110414507,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255813	TF binding region
ENSG00000255813	CpG island
ENSG00000185950	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs34085083	0.83[AFR][1000 genomes]
rs73608710	0.85[AMR][1000 genomes]
rs9301409	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9583423	0.85[AMR][1000 genomes]
rs9587982	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9587983	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv826788	chr13:110381750-110469062	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv826789	chr13:110387268-110473524	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription 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	30 gene(s)	inside rSNPs	diseases
3	nsv526943	chr13:110393477-110421884	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv826790	chr13:110395165-110463032	Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv826791	chr13:110397733-110462553	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv826792	chr13:110398678-110462209	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110396400-110416400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr13:110396600-110412200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr13:110396600-110412800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr13:110396600-110417000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr13:110396800-110417000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr13:110397000-110416400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr13:110397000-110428800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr13:110397200-110430400	Weak transcription	NHLF	lung
9	chr13:110397400-110419400	Weak transcription	Lung	lung
10	chr13:110401800-110430800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr13:110402200-110413200	Strong transcription	HSMM	muscle
12	chr13:110403200-110416800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:110403200-110430600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr13:110403400-110414600	Weak transcription	Esophagus	oesophagus
15	chr13:110404600-110412400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr13:110405000-110412800	Weak transcription	Pancreas	Pancrea
17	chr13:110405000-110416600	Weak transcription	Small Intestine	intestine
18	chr13:110405200-110413200	Weak transcription	Right Ventricle	heart
19	chr13:110405800-110413000	Weak transcription	Gastric	stomach
20	chr13:110406200-110429400	Weak transcription	Primary B cells from cord blood	blood
21	chr13:110406800-110413400	Weak transcription	NHDF-Ad	bronchial
22	chr13:110407400-110423400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:110408600-110412800	Weak transcription	Fetal Brain Female	brain
24	chr13:110408600-110414600	Weak transcription	Fetal Intestine Small	intestine
25	chr13:110408600-110416400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr13:110408600-110416400	Weak transcription	HSMMtube	muscle
27	chr13:110408600-110416600	Weak transcription	Fetal Muscle Leg	muscle
28	chr13:110408600-110416800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr13:110408600-110416800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:110408600-110417000	Weak transcription	NH-A	brain
31	chr13:110408600-110417200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:110408600-110417400	Weak transcription	Fetal Stomach	stomach
33	chr13:110408600-110421600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:110408600-110422800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr13:110408600-110423800	Weak transcription	Placenta	Placenta
36	chr13:110408600-110424400	Weak transcription	Spleen	Spleen
37	chr13:110408600-110430400	Weak transcription	Colonic Mucosa	Colon
38	chr13:110408800-110412600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr13:110408800-110414000	Weak transcription	Colon Smooth Muscle	Colon
40	chr13:110408800-110414000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr13:110408800-110414400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr13:110408800-110414800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr13:110408800-110416400	Weak transcription	Thymus	Thymus
44	chr13:110408800-110416800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:110408800-110416800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr13:110408800-110417000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr13:110408800-110417000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr13:110408800-110420800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr13:110408800-110421400	Weak transcription	Fetal Intestine Large	intestine
50	chr13:110408800-110421800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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