Variant report

Variant	rs545432297
Chromosome Location	chr15:41850435-41850436
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	MAZ	chr15:41849715-41852326	IMR90	lung:	n/a	n/a
2	MAX	chr15:41849810-41850463	NB4	blood:	n/a	chr15:41850240-41850250
3	MYC	chr15:41849789-41850564	NB4	blood:	n/a	chr15:41850240-41850250
4	CTCF	chr15:41849736-41850478	HCT-116	colon:	n/a	chr15:41849950-41849966 chr15:41850174-41850192 chr15:41850060-41850073 chr15:41849949-41849962 chr15:41849949-41849967 chr15:41849962-41849975 chr15:41849952-41849965 chr15:41850180-41850189
5	MAX	chr15:41850033-41850535	ECC-1	luminal epithelium:	n/a	chr15:41850240-41850250
6	MAX	chr15:41849756-41850471	H1-hESC	embryonic stem cell:	n/a	chr15:41850240-41850250
7	MAX	chr15:41849938-41850875	H1-hESC	embryonic stem cell:	n/a	chr15:41850240-41850250
8	BACH1	chr15:41849830-41850529	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr15:41849732-41850815	A549	lung:	n/a	chr15:41850240-41850250
10	SIN3A	chr15:41849836-41852455	H1-hESC	embryonic stem cell:	n/a	chr15:41852090-41852104 chr15:41852327-41852340
11	MAX	chr15:41849876-41850479	SK-N-SH	brain:	n/a	chr15:41850240-41850250
12	POLR2A	chr15:41849871-41850635	H1-hESC	embryonic stem cell:	n/a	n/a
13	BRCA1	chr15:41849895-41850464	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr15:41850270-41850711	Hela-S3	cervix:	n/a	n/a
15	MXI1	chr15:41849704-41852502	IMR90	lung:	n/a	chr15:41851314-41851329
16	MXI1	chr15:41849639-41852553	SK-N-SH	brain:	n/a	chr15:41851314-41851329
17	CTCF	chr15:41849563-41851582	SK-N-SH	brain:	n/a	chr15:41849950-41849966 chr15:41850174-41850192 chr15:41850060-41850073 chr15:41849949-41849962 chr15:41849949-41849967 chr15:41849962-41849975 chr15:41851122-41851135 chr15:41849952-41849965 chr15:41850180-41850189 chr15:41851159-41851172
18	NFIC	chr15:41849853-41850447	ECC-1	luminal epithelium:	n/a	n/a
19	ZKSCAN1	chr15:41849906-41850782	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr15:41850380-41850530	BJ	skin:	n/a	n/a
21	MAX	chr15:41849864-41850519	SK-N-SH	brain:	n/a	chr15:41850240-41850250
22	MAX	chr15:41849821-41850654	ECC-1	luminal epithelium:	n/a	chr15:41850240-41850250
23	ZNF263	chr15:41849881-41850528	HEK293-T-REx	kidney:	n/a	chr15:41850199-41850208
24	SMC3	chr15:41849360-41850721	SK-N-SH	brain:	n/a	chr15:41849962-41849976 chr15:41849955-41849965 chr15:41849951-41849965 chr15:41849962-41849972
25	MXI1	chr15:41850240-41850584	GM12878	blood:	n/a	n/a
26	RUNX3	chr15:41849865-41850463	GM12878	blood:	n/a	n/a
27	MXI1	chr15:41849902-41850635	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr15:41850032-41850471	H1-hESC	embryonic stem cell:	n/a	n/a
29	RAD21	chr15:41849653-41851660	SK-N-SH	brain:	n/a	chr15:41849962-41849976 chr15:41849953-41849966 chr15:41850172-41850191 chr15:41849961-41849974 chr15:41850059-41850072 chr15:41849955-41849965
30	SP1	chr15:41849764-41850600	H1-hESC	embryonic stem cell:	n/a	chr15:41850160-41850170 chr15:41850194-41850208 chr15:41850197-41850208
31	CTCF	chr15:41849726-41851378	A549	lung:	n/a	chr15:41849950-41849966 chr15:41850174-41850192 chr15:41850060-41850073 chr15:41849949-41849962 chr15:41849949-41849967 chr15:41849962-41849975 chr15:41851122-41851135 chr15:41849952-41849965 chr15:41850180-41850189 chr15:41851159-41851172

No.	Distal block	Cell Line	Cell type
1	chr15:41850304..41852496-chr15:41951450..41954168,2	MCF-7	breast:
2	chr15:41849860..41852803-chr15:41858013..41860929,2	MCF-7	breast:
3	chr15:41847317..41853712-chr15:41951201..41955578,8	K562	blood:
4	chr15:41834571..41836708-chr15:41849262..41851156,2	K562	blood:
5	chr15:41849459..41853162-chr15:41854225..41857161,4	MCF-7	breast:
6	chr15:41784400..41789772-chr15:41847283..41854059,7	K562	blood:
7	chr15:41849370..41852913-chr15:41951069..41953769,6	K562	blood:

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

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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	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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41845800-41850600	Enhancers	HUVEC	blood vessel
2	chr15:41849400-41850600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:41849800-41850600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr15:41849800-41850600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr15:41849800-41850600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr15:41849800-41850600	Enhancers	Fetal Muscle Leg	muscle
7	chr15:41849800-41850600	Enhancers	K562	blood
8	chr15:41849800-41851000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:41849800-41851000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:41850000-41850600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr15:41850000-41850600	Enhancers	Primary hematopoietic stem cells	blood
12	chr15:41850000-41850600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr15:41850000-41850600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:41850000-41850600	Flanking Active TSS	Brain Angular Gyrus	brain
15	chr15:41850000-41850600	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr15:41850000-41850600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:41850000-41850600	Enhancers	Esophagus	oesophagus
18	chr15:41850000-41850600	Enhancers	Fetal Intestine Large	intestine
19	chr15:41850000-41850600	Enhancers	Fetal Intestine Small	intestine
20	chr15:41850000-41850600	Enhancers	Placenta	Placenta
21	chr15:41850000-41850600	Enhancers	Fetal Stomach	stomach
22	chr15:41850000-41850600	Enhancers	Left Ventricle	heart
23	chr15:41850000-41850600	Enhancers	Ovary	ovary
24	chr15:41850000-41850600	Genic enhancers	Right Atrium	heart
25	chr15:41850000-41850600	Enhancers	Right Ventricle	heart
26	chr15:41850000-41850600	Enhancers	HSMM	muscle
27	chr15:41850000-41850600	Enhancers	HSMMtube	muscle
28	chr15:41850000-41850600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
29	chr15:41850000-41850800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:41850000-41850800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr15:41850000-41850800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr15:41850000-41850800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr15:41850000-41850800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr15:41850000-41850800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:41850000-41850800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr15:41850000-41850800	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr15:41850000-41850800	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr15:41850000-41850800	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr15:41850000-41850800	Bivalent Enhancer	Fetal Thymus	thymus
40	chr15:41850000-41850800	Enhancers	Lung	lung
41	chr15:41850000-41850800	Enhancers	Pancreas	Pancrea
42	chr15:41850000-41850800	Flanking Active TSS	A549	lung
43	chr15:41850000-41851000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:41850000-41851000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:41850000-41851000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr15:41850000-41851000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:41850000-41851000	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr15:41850000-41851000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr15:41850000-41851000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr15:41850000-41851000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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