Variant report

Variant	rs541924001
Chromosome Location	chr15:78440911-78440912
allele	A/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	POLR2A	chr15:78440576-78441987	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr15:78440733-78441080	K562	blood:	n/a	chr15:78440939-78440950
3	POLR2A	chr15:78440163-78440983	GM12892	blood:	n/a	n/a
4	TBL1XR1	chr15:78440754-78440954	K562	blood:	n/a	n/a
5	HCFC1	chr15:78440450-78442802	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr15:78440610-78441229	A549	lung:	n/a	chr15:78440939-78440950
7	MXI1	chr15:78440630-78442664	IMR90	lung:	n/a	n/a
8	STAT3	chr15:78440808-78441003	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr15:78440295-78442601	Hela-S3	cervix:	n/a	n/a
10	CHD1	chr15:78440553-78442748	IMR90	lung:	n/a	n/a
11	CEBPB	chr15:78440710-78441202	MCF-7	breast:	n/a	chr15:78440939-78440950
12	POLR2A	chr15:78440117-78442262	GM18505	blood:	n/a	n/a
13	POLR2A	chr15:78440889-78441028	HepG2	liver:	n/a	n/a
14	MXI1	chr15:78440600-78443466	SK-N-SH	brain:	n/a	n/a
15	CEBPB	chr15:78440785-78441109	HepG2	liver:	n/a	chr15:78440939-78440950
16	POLR2A	chr15:78440139-78441984	GM12878	blood:	n/a	n/a
17	CEBPB	chr15:78440660-78441159	MCF-7	breast:	n/a	chr15:78440939-78440950
18	CEBPB	chr15:78440622-78441114	A549	lung:	n/a	chr15:78440939-78440950
19	STAT3	chr15:78440872-78441688	MCF10A-Er-Src	breast:	n/a	chr15:78441486-78441506
20	CEBPB	chr15:78440755-78441133	IMR90	lung:	n/a	chr15:78440939-78440950
21	CEBPB	chr15:78440548-78441121	K562	blood:	n/a	chr15:78440939-78440950
22	TBL1XR1	chr15:78440802-78441603	K562	blood:	n/a	n/a
23	POLR2A	chr15:78440770-78440927	MCF10A-Er-Src	breast:	n/a	n/a
24	REST	chr15:78440789-78442853	H1-neurons	neurons:	n/a	chr15:78441722-78441735 chr15:78442024-78442037 chr15:78441531-78441544 chr15:78442024-78442037 chr15:78441971-78441984
25	POLR2A	chr15:78440062-78441950	GM12891	blood:	n/a	n/a
26	POLR2A	chr15:78440063-78440916	GM12878	blood:	n/a	n/a
27	NRF1	chr15:78440693-78442226	SK-N-SH	brain:	n/a	chr15:78441695-78441704 chr15:78441693-78441704 chr15:78441693-78441704 chr15:78441693-78441707

No.	Distal block	Cell Line	Cell type
1	chr15:78421103..78425437-chr15:78438436..78443517,9	MCF-7	breast:
2	chr15:78440397..78443186-chr15:78499689..78503898,3	MCF-7	breast:
3	chr15:78439170..78443635-chr15:78452310..78455814,4	K562	blood:
4	chr15:78440356..78444633-chr15:78445807..78449726,8	K562	blood:
5	chr15:78440859..78443747-chr15:78450376..78455479,5	K562	blood:
6	chr15:78422180..78427678-chr15:78438636..78444300,13	MCF-7	breast:
7	chr15:78422233..78425731-chr15:78438987..78443227,7	K562	blood:
8	chr15:78433535..78435923-chr15:78440184..78443056,4	K562	blood:
9	chr15:78422015..78425228-chr15:78439030..78443289,7	K562	blood:
10	chr15:78440410..78443288-chr15:78589688..78592209,3	K562	blood:

Variant related genes	Relation type
IDH3A	TF binding region
ENSG00000166411	Chromatin interaction
ENSG00000260988	Chromatin interaction
ENSG00000140395	Chromatin interaction
ENSG00000136425	Chromatin interaction
ENSG00000103740	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	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv948437	chr15:78435527-78504662	Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv3340405	chr15:78440522-78443070	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78438200-78441000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr15:78438400-78441000	Enhancers	Psoas Muscle	Psoas
3	chr15:78438600-78441000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr15:78438600-78441000	Enhancers	Placenta	Placenta
5	chr15:78438800-78441000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:78438800-78441200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:78439200-78441000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr15:78440000-78441000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:78440000-78441000	Enhancers	Spleen	Spleen
10	chr15:78440200-78441000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr15:78440200-78441000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:78440200-78441000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr15:78440200-78441000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr15:78440200-78441000	Enhancers	Right Ventricle	heart
15	chr15:78440200-78441000	Enhancers	Small Intestine	intestine
16	chr15:78440200-78441000	Flanking Active TSS	Dnd41	blood
17	chr15:78440200-78442400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:78440400-78441000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:78440400-78441000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:78440400-78441000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr15:78440400-78441000	Flanking Active TSS	A549	lung
22	chr15:78440400-78441000	Flanking Active TSS	GM12878-XiMat	blood
23	chr15:78440400-78441200	Weak transcription	Left Ventricle	heart
24	chr15:78440400-78441200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr15:78440600-78441000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
26	chr15:78440600-78441000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:78440600-78441000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:78440600-78441000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:78440600-78441000	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr15:78440600-78441000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:78440600-78441000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:78440600-78441000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr15:78440600-78441000	Enhancers	Fetal Lung	lung
34	chr15:78440600-78441000	Flanking Active TSS	HepG2	liver
35	chr15:78440600-78441000	Enhancers	HUVEC	blood vessel
36	chr15:78440600-78441000	Flanking Active TSS	K562	blood
37	chr15:78440600-78441000	Flanking Active TSS	NHDF-Ad	bronchial
38	chr15:78440600-78441000	Flanking Active TSS	NHLF	lung
39	chr15:78440600-78441000	Flanking Active TSS	Osteobl	bone
40	chr15:78440600-78441200	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr15:78440600-78441200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr15:78440600-78441200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr15:78440600-78441200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr15:78440600-78441200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr15:78440600-78441200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr15:78440600-78441200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:78440600-78441200	Flanking Active TSS	Liver	Liver
48	chr15:78440600-78441200	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr15:78440600-78441200	Flanking Active TSS	Fetal Thymus	thymus
50	chr15:78440600-78441200	Weak transcription	Placenta Amnion	Placenta Amnion

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