Variant report

Variant	rs562790088
Chromosome Location	chr15:49530713-49530714
allele	C/T
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	RFX5	chr15:49530590-49530740	H1-hESC	embryonic stem cell:	n/a	n/a
2	GATA3	chr15:49530263-49531170	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr15:49530474-49530983	SH-SY5Y	brain:	n/a	n/a
4	EP300	chr15:49530470-49530983	SK-N-SH_RA	brain:	n/a	n/a
5	RAD21	chr15:49530569-49531065	IMR90	lung:	n/a	n/a
6	GATA2	chr15:49530400-49530956	SH-SY5Y	brain:	n/a	n/a
7	MAFK	chr15:49530597-49530902	IMR90	lung:	n/a	n/a
8	JUND	chr15:49530394-49531002	SK-N-SH	brain:	n/a	n/a
9	EP300	chr15:49530431-49531135	SK-N-SH	brain:	n/a	n/a
10	YY1	chr15:49530515-49530883	SK-N-SH_RA	brain:	n/a	chr15:49530528-49530544
11	TEAD4	chr15:49530436-49531080	SK-N-SH	brain:	n/a	n/a
12	REST	chr15:49530633-49530848	SK-N-SH	brain:	n/a	n/a
13	FOSL2	chr15:49530420-49531077	SK-N-SH	brain:	n/a	n/a
14	EP300	chr15:49530392-49531184	SK-N-SH	brain:	n/a	n/a
15	PBX3	chr15:49530327-49531100	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr15:49530574-49530823	SK-N-SH	brain:	n/a	n/a
17	GATA3	chr15:49530338-49531138	SK-N-SH	brain:	n/a	n/a
18	PBX3	chr15:49530422-49531093	SK-N-SH	brain:	n/a	n/a
19	RAD21	chr15:49530613-49530979	SK-N-SH_RA	brain:	n/a	n/a
20	RAD21	chr15:49529885-49532387	SK-N-SH	brain:	n/a	n/a
21	TEAD4	chr15:49530385-49531070	SK-N-SH	brain:	n/a	n/a
22	TCF12	chr15:49530181-49531090	SK-N-SH	brain:	n/a	n/a
23	NFIC	chr15:49530543-49531040	SK-N-SH	brain:	n/a	n/a
24	FOS	chr15:49530687-49530829	MCF10A-Er-Src	breast:	n/a	n/a
25	RAD21	chr15:49530538-49530992	SK-N-SH_RA	brain:	n/a	n/a
26	SIN3AK20	chr15:49530544-49530922	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr15:49530462-49531035	SK-N-SH	brain:	n/a	n/a
28	TCF12	chr15:49530268-49531738	SK-N-SH	brain:	n/a	n/a
29	EP300	chr15:49529875-49532539	SK-N-SH	brain:	n/a	chr15:49531958-49531972 chr15:49530330-49530344
30	TAF1	chr15:49530673-49530936	SK-N-SH	brain:	n/a	n/a
31	MAX	chr15:49530585-49531053	SK-N-SH	brain:	n/a	n/a
32	NFIC	chr15:49530367-49531250	SK-N-SH	brain:	n/a	n/a
33	EP300	chr15:49530432-49531029	SK-N-SH_RA	brain:	n/a	n/a
34	CEBPB	chr15:49530234-49531016	IMR90	lung:	n/a	chr15:49530331-49530348

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49461247..49464422-chr15:49530030..49534036,3	K562	blood:

Variant related genes	Relation type
GALK2	TF binding region
ENSG00000264210	Chromatin interaction
ENSG00000156958	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1039220	chr15:49492509-49644261	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv569340	chr15:49529302-49547735	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv569341	chr15:49529302-49547790	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv569342	chr15:49529302-49549943	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49463600-49540200	Weak transcription	Colonic Mucosa	Colon
2	chr15:49487200-49531200	Weak transcription	HMEC	breast
3	chr15:49492000-49539400	Weak transcription	Small Intestine	intestine
4	chr15:49504200-49530800	Weak transcription	Fetal Thymus	thymus
5	chr15:49508800-49535800	Weak transcription	A549	lung
6	chr15:49510000-49541800	Weak transcription	NHEK	skin
7	chr15:49510200-49537000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:49510800-49534400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr15:49511800-49531400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:49511800-49532200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:49516000-49531400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr15:49518000-49535400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:49518000-49541000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:49518200-49548600	Weak transcription	Aorta	Aorta
15	chr15:49518600-49532000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:49518600-49557600	Weak transcription	Esophagus	oesophagus
17	chr15:49518800-49539200	Weak transcription	Ovary	ovary
18	chr15:49520400-49595600	Weak transcription	Right Ventricle	heart
19	chr15:49520600-49531200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr15:49520800-49531400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr15:49522000-49534600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr15:49522000-49537800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr15:49522000-49538200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr15:49522000-49540400	Weak transcription	Stomach Mucosa	stomach
25	chr15:49522200-49531400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr15:49522200-49535000	Weak transcription	Left Ventricle	heart
27	chr15:49522400-49559400	Weak transcription	Pancreas	Pancrea
28	chr15:49522600-49534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:49522600-49535200	Weak transcription	Gastric	stomach
30	chr15:49522800-49531400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:49523800-49534800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr15:49523800-49540200	Weak transcription	Spleen	Spleen
33	chr15:49524400-49530800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr15:49524600-49531400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr15:49524600-49531400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr15:49524600-49531400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr15:49524600-49535200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr15:49524600-49535200	Weak transcription	Placenta	Placenta
39	chr15:49524600-49535200	Weak transcription	Thymus	Thymus
40	chr15:49524600-49539200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr15:49524600-49544800	Weak transcription	Lung	lung
42	chr15:49524800-49531400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr15:49525000-49531400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr15:49525000-49534600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr15:49525200-49530800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr15:49525200-49531400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr15:49525200-49531400	Weak transcription	HepG2	liver
48	chr15:49525200-49535000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr15:49525200-49535000	Weak transcription	Fetal Intestine Large	intestine
50	chr15:49525400-49535200	Weak transcription	Fetal Intestine Small	intestine

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