Variant report

Variant	rs9550551
Chromosome Location	chr13:30882197-30882198
allele	A/G
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	POLR2A	chr13:30880673-30882514	K562	blood:	n/a	n/a
2	MAX	chr13:30880755-30882234	A549	lung:	n/a	chr13:30881600-30881609
3	MAZ	chr13:30880731-30882197	GM12878	blood:	n/a	chr13:30881600-30881609
4	MAX	chr13:30880778-30882319	HCT-116	colon:	n/a	chr13:30881600-30881609
5	UBTF	chr13:30881851-30882230	K562	blood:	n/a	n/a
6	IRF1	chr13:30881292-30883044	K562	blood:	n/a	n/a
7	POLR2A	chr13:30880767-30882357	K562	blood:	n/a	n/a
8	POLR2A	chr13:30880810-30882372	K562	blood:	n/a	n/a
9	POLR2A	chr13:30880561-30882374	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr13:30880766-30882336	K562	blood:	n/a	n/a
11	MAX	chr13:30881296-30882243	HepG2	liver:	n/a	chr13:30881600-30881609
12	REST	chr13:30880709-30882415	H1-neurons	neurons:	n/a	chr13:30881706-30881719
13	MAX	chr13:30880683-30882331	A549	lung:	n/a	chr13:30881600-30881609
14	MAZ	chr13:30880433-30882373	IMR90	lung:	n/a	chr13:30881600-30881609
15	POLR2A	chr13:30880810-30882349	K562	blood:	n/a	n/a
16	TBP	chr13:30880981-30882235	K562	blood:	n/a	n/a
17	MAX	chr13:30881193-30882206	ECC-1	luminal epithelium:	n/a	chr13:30881600-30881609
18	MXI1	chr13:30880606-30882344	IMR90	lung:	n/a	chr13:30881600-30881615 chr13:30881598-30881613
19	POLR2A	chr13:30880752-30882206	HepG2	liver:	n/a	n/a
20	JUND	chr13:30880814-30882217	K562	blood:	n/a	n/a
21	SIN3A	chr13:30880627-30882207	H1-hESC	embryonic stem cell:	n/a	chr13:30881018-30881029
22	HA-E2F1	chr13:30880699-30882208	MCF-7	breast:	n/a	chr13:30881910-30881922 chr13:30881609-30881619 chr13:30881911-30881918 chr13:30881911-30881918 chr13:30881303-30881318 chr13:30881305-30881317 chr13:30881906-30881913 chr13:30881911-30881918 chr13:30881584-30881594 chr13:30881053-30881065
23	POLR2A	chr13:30880823-30882371	K562	blood:	n/a	n/a
24	GATA2	chr13:30881035-30882346	SH-SY5Y	brain:	n/a	n/a
25	E2F6	chr13:30881506-30882224	H1-hESC	embryonic stem cell:	n/a	chr13:30881910-30881922 chr13:30881609-30881619 chr13:30881909-30881920 chr13:30881911-30881918 chr13:30881911-30881918 chr13:30881906-30881913 chr13:30881911-30881918 chr13:30881584-30881594
26	MYC	chr13:30882103-30882294	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr13:30880649-30882208	PBDE	blood:	n/a	n/a
28	MAZ	chr13:30880602-30882368	K562	blood:	n/a	chr13:30881600-30881609
29	POLR2A	chr13:30881558-30882243	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30880213..30882773-chr13:31038194..31039987,2	K562	blood:
2	chr13:30881311..30882964-chr13:31038012..31040659,2	K562	blood:

Variant related genes	Relation type
KATNAL1	TF binding region
ENSG00000189403	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10492464	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11147417	0.86[ASN][1000 genomes]
rs11147418	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17633138	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17633357	1.00[EUR][1000 genomes]
rs17689690	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17689746	0.83[ASN][1000 genomes]
rs55843043	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56232780	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57190526	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs58933801	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59415075	1.00[EUR][1000 genomes]
rs614986	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61948026	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs739501	0.86[ASN][1000 genomes]
rs766994	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9550554	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9550556	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9550558	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9551891	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9551892	0.85[AMR][1000 genomes];0.92[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	esv3327826	chr13:30880377-30882925	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30879800-30882200	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr13:30879800-30882200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr13:30879800-30882200	Active TSS	Psoas Muscle	Psoas
4	chr13:30879800-30882400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr13:30879800-30882400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:30880000-30882200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:30880000-30882200	Active TSS	Fetal Brain Female	brain
8	chr13:30880000-30882400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr13:30880000-30882800	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr13:30880200-30882200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:30880200-30882200	Active TSS	Fetal Stomach	stomach
12	chr13:30880200-30882200	Active TSS	NHDF-Ad	bronchial
13	chr13:30880200-30883000	Active TSS	K562	blood
14	chr13:30880400-30882200	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr13:30880400-30882400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr13:30880400-30882400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:30880400-30882400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:30880400-30882400	Active TSS	Brain Angular Gyrus	brain
19	chr13:30880400-30882400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr13:30880400-30882400	Active TSS	Fetal Intestine Large	intestine
21	chr13:30880400-30882400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr13:30880400-30882400	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr13:30880400-30882400	Active TSS	Right Ventricle	heart
24	chr13:30880600-30882200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr13:30880600-30882200	Active TSS	Aorta	Aorta
26	chr13:30880600-30882200	Active TSS	Fetal Kidney	kidney
27	chr13:30880600-30882200	Active TSS	Ovary	ovary
28	chr13:30880600-30882200	Active TSS	HSMM	muscle
29	chr13:30880600-30882400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr13:30880600-30882400	Active TSS	H9 Cell Line	embryonic stem cell
31	chr13:30880600-30882400	Active TSS	Brain Cingulate Gyrus	brain
32	chr13:30880600-30882400	Active TSS	Brain Hippocampus Middle	brain
33	chr13:30880600-30882400	Active TSS	Brain Substantia Nigra	brain
34	chr13:30880800-30882200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:30880800-30882200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr13:30880800-30882200	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr13:30880800-30882200	Active TSS	Esophagus	oesophagus
38	chr13:30880800-30882200	Active TSS	Left Ventricle	heart
39	chr13:30880800-30882200	Active TSS	Lung	lung
40	chr13:30880800-30882200	Active TSS	Pancreas	Pancrea
41	chr13:30880800-30882200	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr13:30880800-30882400	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr13:30880800-30882400	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr13:30881000-30882200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr13:30881000-30882200	Active TSS	Brain Anterior Caudate	brain
46	chr13:30881000-30882400	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr13:30881600-30882200	Flanking Active TSS	Colonic Mucosa	Colon
48	chr13:30881600-30882400	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr13:30881800-30882200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr13:30881800-30882200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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