Variant report

Variant	rs7524536
Chromosome Location	chr1:158150443-158150444
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	ZNF263	chr1:158149957-158151347	HEK293-T-REx	kidney:	n/a	n/a
2	SIN3A	chr1:158150172-158151486	H1-hESC	embryonic stem cell:	n/a	chr1:158150984-158150995 chr1:158151194-158151207
3	KAP1	chr1:158150127-158151579	HEK293	kidney:	n/a	n/a
4	CHD2	chr1:158150026-158150457	H1-hESC	embryonic stem cell:	n/a	n/a
5	MYC	chr1:158150383-158151586	NB4	blood:	n/a	n/a
6	MAX	chr1:158150387-158151365	NB4	blood:	n/a	n/a
7	JUND	chr1:158150346-158150743	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr1:158148912-158153430	K562	blood:	n/a	n/a
9	ELF1	chr1:158150430-158151577	GM12878	blood:	n/a	chr1:158150602-158150613
10	REST	chr1:158150361-158151255	H1-neurons	neurons:	n/a	chr1:158151098-158151111 chr1:158150685-158150698 chr1:158150685-158150698 chr1:158151194-158151207
11	PML	chr1:158150398-158150984	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158149755..158153217-chr1:158153415..158155911,3	K562	blood:

Variant related genes	Relation type
ELL2P1	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs6683431	0.94[AFR][1000 genomes]
rs73012216	0.94[AFR][1000 genomes]
rs73012227	0.94[AFR][1000 genomes]
rs73012230	0.94[AFR][1000 genomes]
rs73014155	0.94[AFR][1000 genomes]
rs73028520	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv872479	chr1:158118787-158484285	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158147800-158150600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr1:158148000-158150600	Weak transcription	Ovary	ovary
3	chr1:158148200-158150600	Weak transcription	Aorta	Aorta
4	chr1:158149200-158150600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:158149200-158150600	Enhancers	Spleen	Spleen
6	chr1:158149200-158151000	Flanking Active TSS	GM12878-XiMat	blood
7	chr1:158149200-158152400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr1:158149400-158150600	Enhancers	Pancreas	Pancrea
9	chr1:158149600-158150600	Flanking Active TSS	Dnd41	blood
10	chr1:158149800-158150600	Weak transcription	Small Intestine	intestine
11	chr1:158150000-158150600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
12	chr1:158150000-158150600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr1:158150000-158150600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
14	chr1:158150000-158150600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:158150000-158150600	Flanking Active TSS	Liver	Liver
16	chr1:158150000-158150800	Flanking Active TSS	Primary B cells from peripheral blood	blood
17	chr1:158150000-158151200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:158150000-158151200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr1:158150000-158151600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr1:158150000-158151600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr1:158150200-158150600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
22	chr1:158150200-158150600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
23	chr1:158150200-158150600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
24	chr1:158150200-158150600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:158150200-158150600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:158150200-158150600	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr1:158150200-158150600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
28	chr1:158150200-158150600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:158150200-158150600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:158150200-158150600	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr1:158150200-158150600	Flanking Active TSS	Fetal Kidney	kidney
32	chr1:158150200-158150600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr1:158150200-158150600	Flanking Active TSS	NHEK	skin
34	chr1:158150200-158150800	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr1:158150200-158151400	Active TSS	Rectal Smooth Muscle	rectum
36	chr1:158150200-158151600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr1:158150200-158151600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
38	chr1:158150200-158151800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:158150400-158150600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:158150400-158150600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
41	chr1:158150400-158150600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr1:158150400-158150600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:158150400-158150600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:158150400-158150600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:158150400-158150600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:158150400-158150600	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
47	chr1:158150400-158150600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
48	chr1:158150400-158150600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
49	chr1:158150400-158150600	Enhancers	Colonic Mucosa	Colon
50	chr1:158150400-158150600	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon

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