Variant report

Variant	rs532220741
Chromosome Location	chr15:41852351-41852352
allele	C/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	TEAD4	chr15:41852150-41852601	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr15:41852300-41852352	MCF-7	breast:	n/a	n/a
3	POLR2A	chr15:41852314-41852436	K562	blood:	n/a	n/a
4	POLR2A	chr15:41851238-41852973	K562	blood:	n/a	n/a
5	SIN3A	chr15:41849836-41852455	H1-hESC	embryonic stem cell:	n/a	chr15:41852090-41852104 chr15:41852327-41852340
6	SMARCB1	chr15:41850917-41852367	Hela-S3	cervix:	n/a	n/a
7	MXI1	chr15:41849704-41852502	IMR90	lung:	n/a	chr15:41851314-41851329
8	MXI1	chr15:41849639-41852553	SK-N-SH	brain:	n/a	chr15:41851314-41851329
9	POLR2A	chr15:41851826-41852434	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZNF263	chr15:41851058-41853318	HEK293-T-REx	kidney:	n/a	chr15:41851388-41851409 chr15:41851348-41851369 chr15:41851896-41851905 chr15:41851160-41851169
11	ZNF263	chr15:41850723-41852379	K562	blood:	n/a	chr15:41851388-41851409 chr15:41851348-41851369 chr15:41851896-41851905 chr15:41851160-41851169
12	TEAD4	chr15:41852157-41852518	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:41851361..41854178-chr15:42065182..42067599,2	K562	blood:
2	chr15:41850304..41852496-chr15:41951450..41954168,2	MCF-7	breast:
3	chr15:41851029..41853126-chr15:41899971..41902269,2	K562	blood:
4	chr15:41849860..41852803-chr15:41858013..41860929,2	MCF-7	breast:
5	chr15:41847317..41853712-chr15:41951201..41955578,8	K562	blood:
6	chr15:41835713..41840265-chr15:41851401..41853463,4	K562	blood:
7	chr15:41849459..41853162-chr15:41854225..41857161,4	MCF-7	breast:
8	chr15:41784400..41789772-chr15:41847283..41854059,7	K562	blood:
9	chr15:41849370..41852913-chr15:41951069..41953769,6	K562	blood:
10	chr15:41850576..41853126-chr15:41900769..41903357,2	K562	blood:

Variant related genes	Relation type
TYRO3	TF binding region
ENSG00000174197	Chromatin interaction
ENSG00000260926	Chromatin interaction
ENSG00000137802	Chromatin interaction
ENSG00000092445	Chromatin interaction
ENSG00000137825	Chromatin interaction
ENSG00000103932	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3379660	chr15:41850410-41852608	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	esv3311131	chr15:41851466-41853360	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3311132	chr15:41851466-41853360	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41850000-41853000	Enhancers	Fetal Heart	heart
2	chr15:41850200-41852600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr15:41850200-41852600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:41850200-41853200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:41850600-41852400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr15:41850600-41852600	Active TSS	Brain Angular Gyrus	brain
7	chr15:41850800-41852400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:41850800-41852400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:41850800-41852400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:41850800-41852400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr15:41850800-41852400	Active TSS	Brain Substantia Nigra	brain
12	chr15:41850800-41852400	Active TSS	A549	lung
13	chr15:41850800-41852600	Active TSS	H9 Cell Line	embryonic stem cell
14	chr15:41850800-41852600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:41850800-41853000	Active TSS	Fetal Kidney	kidney
16	chr15:41851000-41852400	Active TSS	Rectal Smooth Muscle	rectum
17	chr15:41851000-41852400	Active TSS	HSMM	muscle
18	chr15:41851200-41852400	Active TSS	Right Atrium	heart
19	chr15:41851400-41852400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:41851600-41852400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr15:41851600-41852400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:41851600-41852400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
23	chr15:41851800-41852400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr15:41851800-41852400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
25	chr15:41851800-41852400	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
26	chr15:41851800-41852400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr15:41851800-41852400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:41851800-41852400	Flanking Active TSS	Placenta	Placenta
29	chr15:41851800-41852400	Flanking Active TSS	Pancreas	Pancrea
30	chr15:41851800-41852400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
31	chr15:41851800-41852400	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr15:41851800-41852400	Flanking Active TSS	HUVEC	blood vessel
33	chr15:41851800-41852400	Flanking Active TSS	Osteobl	bone
34	chr15:41851800-41852600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr15:41851800-41852600	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr15:41851800-41852600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr15:41851800-41852600	Flanking Active TSS	HMEC	breast
38	chr15:41851800-41852600	Flanking Active TSS	NH-A	brain
39	chr15:41851800-41852800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr15:41851800-41852800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:41851800-41852800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:41851800-41852800	Flanking Active TSS	Fetal Stomach	stomach
43	chr15:41851800-41853000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr15:41851800-41853000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr15:41851800-41853000	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr15:41851800-41853000	Flanking Active TSS	Esophagus	oesophagus
47	chr15:41851800-41853000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr15:41851800-41853200	Flanking Active TSS	Dnd41	blood
49	chr15:41852000-41852400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr15:41852000-41852400	Flanking Bivalent TSS/Enh	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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