Variant report

Variant	rs144999863
Chromosome Location	chr15:78440709-78440710
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	POLR2A	chr15:78440576-78441987	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr15:78440163-78440983	GM12892	blood:	n/a	n/a
3	HCFC1	chr15:78440450-78442802	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr15:78440610-78441229	A549	lung:	n/a	chr15:78440939-78440950
5	MXI1	chr15:78440630-78442664	IMR90	lung:	n/a	n/a
6	POLR2A	chr15:78440295-78442601	Hela-S3	cervix:	n/a	n/a
7	CHD1	chr15:78440553-78442748	IMR90	lung:	n/a	n/a
8	POLR2A	chr15:78440117-78442262	GM18505	blood:	n/a	n/a
9	MXI1	chr15:78440600-78443466	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr15:78440139-78441984	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:78440255-78440861	K562	blood:	n/a	n/a
12	MTA3	chr15:78440192-78440829	GM12878	blood:	n/a	n/a
13	CEBPB	chr15:78440660-78441159	MCF-7	breast:	n/a	chr15:78440939-78440950
14	CEBPB	chr15:78440622-78441114	A549	lung:	n/a	chr15:78440939-78440950
15	CEBPB	chr15:78440548-78441121	K562	blood:	n/a	chr15:78440939-78440950
16	POLR2A	chr15:78439724-78440745	K562	blood:	n/a	n/a
17	POLR2A	chr15:78440062-78441950	GM12891	blood:	n/a	n/a
18	POLR2A	chr15:78440063-78440916	GM12878	blood:	n/a	n/a
19	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	chr15:78414752..78417603-chr15:78438939..78440752,2	MCF-7	breast:
2	chr15:78421103..78425437-chr15:78438436..78443517,9	MCF-7	breast:
3	chr15:78440397..78443186-chr15:78499689..78503898,3	MCF-7	breast:
4	chr15:78439170..78443635-chr15:78452310..78455814,4	K562	blood:
5	chr15:78440356..78444633-chr15:78445807..78449726,8	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
ENSG00000140395	Chromatin interaction
ENSG00000166411	Chromatin interaction
ENSG00000103740	Chromatin interaction
ENSG00000260988	Chromatin interaction
ENSG00000136425	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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78424600-78440800	Weak transcription	HSMMtube	muscle
2	chr15:78438200-78441000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr15:78438400-78440800	Enhancers	Adipose Nuclei	Adipose
4	chr15:78438400-78440800	Enhancers	Fetal Intestine Large	intestine
5	chr15:78438400-78441000	Enhancers	Psoas Muscle	Psoas
6	chr15:78438600-78440800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr15:78438600-78441000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr15:78438600-78441000	Enhancers	Placenta	Placenta
9	chr15:78438800-78440800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:78438800-78440800	Enhancers	HMEC	breast
11	chr15:78438800-78441000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:78438800-78441200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:78439000-78440800	Enhancers	Esophagus	oesophagus
14	chr15:78439000-78440800	Enhancers	Fetal Heart	heart
15	chr15:78439000-78440800	Enhancers	Pancreas	Pancrea
16	chr15:78439200-78441000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr15:78439800-78440800	Enhancers	Stomach Mucosa	stomach
18	chr15:78440000-78440800	Enhancers	Fetal Intestine Small	intestine
19	chr15:78440000-78440800	Enhancers	Fetal Muscle Leg	muscle
20	chr15:78440000-78440800	Enhancers	Lung	lung
21	chr15:78440000-78440800	Enhancers	Right Atrium	heart
22	chr15:78440000-78441000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:78440000-78441000	Enhancers	Spleen	Spleen
24	chr15:78440200-78440800	Enhancers	Primary B cells from peripheral blood	blood
25	chr15:78440200-78440800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr15:78440200-78440800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr15:78440200-78441000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr15:78440200-78441000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr15:78440200-78441000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr15:78440200-78441000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr15:78440200-78441000	Enhancers	Right Ventricle	heart
32	chr15:78440200-78441000	Enhancers	Small Intestine	intestine
33	chr15:78440200-78441000	Flanking Active TSS	Dnd41	blood
34	chr15:78440200-78442400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:78440400-78440800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr15:78440400-78440800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr15:78440400-78440800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr15:78440400-78440800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr15:78440400-78440800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr15:78440400-78440800	Enhancers	Brain Germinal Matrix	brain
41	chr15:78440400-78440800	Enhancers	Colon Smooth Muscle	Colon
42	chr15:78440400-78440800	Enhancers	Gastric	stomach
43	chr15:78440400-78441000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr15:78440400-78441000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:78440400-78441000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr15:78440400-78441000	Flanking Active TSS	A549	lung
47	chr15:78440400-78441000	Flanking Active TSS	GM12878-XiMat	blood
48	chr15:78440400-78441200	Weak transcription	Left Ventricle	heart
49	chr15:78440400-78441200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr15:78440600-78440800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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