Variant report

Variant	rs578059120
Chromosome Location	chr15:40615172-40615173
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	SIN3AK20	chr15:40615093-40615953	H1-hESC	embryonic stem cell:	n/a	n/a
2	JUND	chr15:40614913-40616036	SK-N-SH	brain:	n/a	n/a
3	JUND	chr15:40615075-40616552	GM12878	blood:	n/a	chr15:40616113-40616122 chr15:40616478-40616487
4	JUN	chr15:40614979-40616024	K562	blood:	n/a	n/a
5	CTCF	chr15:40615140-40615290	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr15:40614484-40615902	SK-N-MC	brain:	n/a	n/a
7	CTCF	chr15:40615140-40615290	BE2_C	brain:	n/a	n/a
8	POLR2A	chr15:40615151-40616626	MCF-7	breast:	n/a	n/a
9	MTA3	chr15:40615130-40615870	GM12878	blood:	n/a	n/a
10	HCFC1	chr15:40614563-40616031	Hela-S3	cervix:	n/a	n/a
11	E2F6	chr15:40614569-40616609	H1-hESC	embryonic stem cell:	n/a	chr15:40615823-40615832 chr15:40616080-40616090 chr15:40615820-40615832 chr15:40616595-40616605 chr15:40615747-40615757 chr15:40616077-40616087 chr15:40615881-40615896 chr15:40615523-40615532 chr15:40616477-40616486 chr15:40616070-40616080
12	RCOR1	chr15:40614508-40616022	IMR90	lung:	n/a	n/a
13	MAZ	chr15:40614373-40617806	IMR90	lung:	n/a	chr15:40614503-40614513 chr15:40617461-40617470
14	MAX	chr15:40614667-40616807	HepG2	liver:	n/a	n/a
15	E2F6	chr15:40615058-40616225	H1-hESC	embryonic stem cell:	n/a	chr15:40615823-40615832 chr15:40616080-40616090 chr15:40615820-40615832 chr15:40615747-40615757 chr15:40616077-40616087 chr15:40615881-40615896 chr15:40615523-40615532 chr15:40616070-40616080
16	MXI1	chr15:40615137-40617187	SK-N-SH	brain:	n/a	n/a
17	SIN3A	chr15:40614717-40617191	H1-hESC	embryonic stem cell:	n/a	chr15:40615806-40615817 chr15:40615521-40615532
18	MAX	chr15:40614557-40615209	H1-hESC	embryonic stem cell:	n/a	n/a
19	REST	chr15:40614987-40616555	H1-neurons	neurons:	n/a	chr15:40615818-40615831 chr15:40615046-40615054 chr15:40615388-40615401 chr15:40615170-40615179
20	CTBP2	chr15:40614278-40615958	H1-hESC	embryonic stem cell:	n/a	n/a
21	HMGN3	chr15:40615128-40616989	K562	blood:	n/a	n/a
22	MXI1	chr15:40614955-40616586	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40615161..40616254-chr15:40713827..40714847,4	K562	blood:
2	chr15:40614221..40619136-chr15:40629898..40635011,9	K562	blood:
3	chr15:40583616..40585723-chr15:40614548..40617090,2	K562	blood:
4	chr15:40573745..40575892-chr15:40613923..40616158,2	K562	blood:
5	chr15:40607352..40610567-chr15:40611377..40615529,4	MCF-7	breast:
6	chr15:40606578..40610704-chr15:40612489..40616999,9	K562	blood:
7	chr15:40581922..40583593-chr15:40614518..40616173,2	K562	blood:
8	chr15:40596957..40600729-chr15:40613519..40617071,4	K562	blood:
9	chr15:40615118..40617051-chr15:40729542..40732021,2	K562	blood:
10	chr15:40613571..40616194-chr15:40676591..40679577,2	K562	blood:
11	chr15:40614961..40616867-chr15:40712396..40714190,2	MCF-7	breast:
12	chr15:40611920..40613859-chr15:40613927..40615590,2	K562	blood:
13	chr15:40573791..40575924-chr15:40613554..40617283,3	MCF-7	breast:
14	chr15:40608873..40611853-chr15:40613878..40616202,2	MCF-7	breast:
15	chr15:40510541..40512947-chr15:40613762..40616049,2	K562	blood:
16	chr15:40606578..40609257-chr15:40612890..40617072,4	K562	blood:
17	chr15:40613279..40619250-chr15:40625286..40632667,13	MCF-7	breast:
18	chr15:40599147..40601689-chr15:40614013..40619011,4	K562	blood:
19	chr15:40613324..40616013-chr15:40714259..40715828,2	K562	blood:
20	chr15:40613668..40617143-chr15:40761466..40764045,3	K562	blood:

Variant related genes	Relation type
LINC00984	TF binding region
ENSG00000230778	Chromatin interaction
ENSG00000169105	Chromatin interaction
ENSG00000137841	Chromatin interaction
ENSG00000259288	Chromatin interaction
ENSG00000188549	Chromatin interaction
ENSG00000140320	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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv1850798	chr15:40560607-40622191	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv827305	chr15:40596162-40625922	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3378883	chr15:40614885-40617433	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40606000-40615200	Weak transcription	Psoas Muscle	Psoas
2	chr15:40612400-40615600	Enhancers	Fetal Heart	heart
3	chr15:40613000-40615200	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr15:40613000-40615200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:40613200-40615200	Weak transcription	Left Ventricle	heart
6	chr15:40613400-40615200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr15:40613400-40615200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:40613400-40615200	Enhancers	K562	blood
9	chr15:40613400-40617000	Enhancers	Fetal Brain Male	brain
10	chr15:40613600-40615200	Weak transcription	HSMMtube	muscle
11	chr15:40614000-40615200	Enhancers	Fetal Muscle Leg	muscle
12	chr15:40614200-40615200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr15:40614200-40615200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr15:40614200-40615200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr15:40614200-40615200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:40614200-40615200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:40614200-40615200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr15:40614200-40615200	Enhancers	Pancreas	Pancrea
19	chr15:40614200-40615400	Enhancers	HMEC	breast
20	chr15:40614200-40615600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:40614400-40615200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:40614400-40615200	Enhancers	Primary T cells fromperipheralblood	blood
23	chr15:40614400-40615200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr15:40614400-40615200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:40614400-40615200	Enhancers	Placenta	Placenta
26	chr15:40614400-40615200	Enhancers	Right Ventricle	heart
27	chr15:40614400-40615200	Enhancers	NHLF	lung
28	chr15:40614400-40615400	Enhancers	Spleen	Spleen
29	chr15:40614600-40615200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
30	chr15:40614600-40615200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:40614600-40615200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
32	chr15:40614600-40615200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:40614600-40615200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:40614600-40615200	Enhancers	Primary B cells from peripheral blood	blood
35	chr15:40614600-40615200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:40614600-40615200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:40614600-40615200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr15:40614600-40615200	Enhancers	Adipose Nuclei	Adipose
39	chr15:40614600-40615200	Enhancers	Brain Substantia Nigra	brain
40	chr15:40614600-40615200	Enhancers	Duodenum Mucosa	Duodenum
41	chr15:40614600-40615200	Enhancers	Esophagus	oesophagus
42	chr15:40614600-40615200	Enhancers	Fetal Intestine Large	intestine
43	chr15:40614600-40615200	Enhancers	Fetal Lung	lung
44	chr15:40614600-40615200	Bivalent Enhancer	Fetal Thymus	thymus
45	chr15:40614600-40615200	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr15:40614600-40615200	Enhancers	Hela-S3	cervix
47	chr15:40614600-40615400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
48	chr15:40614600-40615400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
49	chr15:40614600-40615400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr15:40614600-40615400	Flanking Bivalent TSS/Enh	HepG2	liver

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