Variant report

Variant	rs557906413
Chromosome Location	chr15:49531333-49531334
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	RAD21	chr15:49529885-49532387	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr15:49530268-49531738	SK-N-SH	brain:	n/a	n/a
3	EP300	chr15:49529875-49532539	SK-N-SH	brain:	n/a	chr15:49531958-49531972 chr15:49530330-49530344

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
ENSG00000156958	Chromatin interaction
ENSG00000264210	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv569343	chr15:49531192-49547790	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 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	chr15:49492000-49539400	Weak transcription	Small Intestine	intestine
3	chr15:49508800-49535800	Weak transcription	A549	lung
4	chr15:49510000-49541800	Weak transcription	NHEK	skin
5	chr15:49510200-49537000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:49510800-49534400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr15:49511800-49531400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:49511800-49532200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:49516000-49531400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr15:49518000-49535400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:49518000-49541000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:49518200-49548600	Weak transcription	Aorta	Aorta
13	chr15:49518600-49532000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:49518600-49557600	Weak transcription	Esophagus	oesophagus
15	chr15:49518800-49539200	Weak transcription	Ovary	ovary
16	chr15:49520400-49595600	Weak transcription	Right Ventricle	heart
17	chr15:49520800-49531400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr15:49522000-49534600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr15:49522000-49537800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr15:49522000-49538200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr15:49522000-49540400	Weak transcription	Stomach Mucosa	stomach
22	chr15:49522200-49531400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr15:49522200-49535000	Weak transcription	Left Ventricle	heart
24	chr15:49522400-49559400	Weak transcription	Pancreas	Pancrea
25	chr15:49522600-49534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:49522600-49535200	Weak transcription	Gastric	stomach
27	chr15:49522800-49531400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr15:49523800-49534800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr15:49523800-49540200	Weak transcription	Spleen	Spleen
30	chr15:49524600-49531400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr15:49524600-49531400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr15:49524600-49531400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr15:49524600-49535200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr15:49524600-49535200	Weak transcription	Placenta	Placenta
35	chr15:49524600-49535200	Weak transcription	Thymus	Thymus
36	chr15:49524600-49539200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr15:49524600-49544800	Weak transcription	Lung	lung
38	chr15:49524800-49531400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr15:49525000-49531400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:49525000-49534600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr15:49525200-49531400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr15:49525200-49531400	Weak transcription	HepG2	liver
43	chr15:49525200-49535000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr15:49525200-49535000	Weak transcription	Fetal Intestine Large	intestine
45	chr15:49525400-49535200	Weak transcription	Fetal Intestine Small	intestine
46	chr15:49526200-49534600	Weak transcription	K562	blood
47	chr15:49527600-49532800	Enhancers	Fetal Lung	lung
48	chr15:49527600-49533600	Enhancers	Fetal Stomach	stomach
49	chr15:49527800-49531400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr15:49527800-49531400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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