Variant report

Variant	rs10036711
Chromosome Location	chr5:147700366-147700367
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	USF1	chr5:147700191-147700450	SK-N-SH_RA	brain:	n/a	chr5:147700368-147700379
2	ZNF143	chr5:147700350-147700550	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr5:147700260-147700488	HepG2	liver:	n/a	n/a
4	SP4	chr5:147700250-147700519	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr5:147700294-147700475	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr5:147700164-147700508	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF1	chr5:147700155-147700643	H1-hESC	embryonic stem cell:	n/a	chr5:147700368-147700379
8	BHLHE40	chr5:147700220-147700556	HepG2	liver:	n/a	n/a
9	USF1	chr5:147700292-147700487	SK-N-SH	brain:	n/a	chr5:147700368-147700379
10	USF2	chr5:147700204-147700549	HepG2	liver:	n/a	n/a
11	MAX	chr5:147700297-147700481	H1-hESC	embryonic stem cell:	n/a	n/a
12	USF2	chr5:147700270-147700401	GM12878	blood:	n/a	n/a
13	SP4	chr5:147700239-147700556	H1-hESC	embryonic stem cell:	n/a	n/a
14	USF1	chr5:147700299-147700473	SK-N-SH	brain:	n/a	chr5:147700368-147700379
15	USF1	chr5:147700176-147700492	HepG2	liver:	n/a	chr5:147700368-147700379
16	NANOG	chr5:147700296-147700450	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr5:147700254-147700546	H1-hESC	embryonic stem cell:	n/a	n/a
18	USF1	chr5:147700232-147700448	HepG2	liver:	n/a	chr5:147700368-147700379
19	SIN3AK20	chr5:147700288-147700455	H1-hESC	embryonic stem cell:	n/a	n/a
20	SIN3A	chr5:147700200-147700572	H1-hESC	embryonic stem cell:	n/a	n/a
21	USF1	chr5:147700195-147700506	H1-hESC	embryonic stem cell:	n/a	chr5:147700368-147700379
22	MAX	chr5:147700252-147700464	H1-hESC	embryonic stem cell:	n/a	n/a
23	JUND	chr5:147700309-147700469	H1-hESC	embryonic stem cell:	n/a	n/a
24	TAF1	chr5:147700257-147700532	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF3	chr5:147700161-147700529	H1-hESC	embryonic stem cell:	n/a	n/a
26	USF1	chr5:147700244-147700524	SK-N-SH_RA	brain:	n/a	chr5:147700368-147700379
27	MXI1	chr5:147700161-147700717	SK-N-SH	brain:	n/a	n/a
28	USF2	chr5:147700196-147700592	H1-hESC	embryonic stem cell:	n/a	n/a
29	SIN3AK20	chr5:147700188-147700507	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SPINK9	TF binding region

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	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv599945	chr5:147649181-147720487	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1801220	chr5:147694648-147705789	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147698600-147700400	Active TSS	Fetal Lung	lung
2	chr5:147699400-147700600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr5:147699400-147700600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr5:147699400-147700600	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr5:147699400-147700600	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr5:147699400-147700600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:147699400-147700600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:147699400-147700600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:147699400-147700600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr5:147699400-147700600	Active TSS	Fetal Intestine Small	intestine
11	chr5:147699600-147700400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:147699600-147700400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:147699600-147700400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr5:147699600-147700400	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr5:147699600-147700400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:147699600-147700400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:147699600-147700400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr5:147699600-147700400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr5:147699600-147700400	Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr5:147699600-147700400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:147699600-147700400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:147699600-147700400	Active TSS	Duodenum Mucosa	Duodenum
23	chr5:147699600-147700400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr5:147699600-147700400	Active TSS	Fetal Stomach	stomach
25	chr5:147699600-147700400	Active TSS	Ovary	ovary
26	chr5:147699600-147700400	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr5:147699600-147700400	Active TSS	Rectal Smooth Muscle	rectum
28	chr5:147699600-147700400	Active TSS	Right Ventricle	heart
29	chr5:147699600-147700400	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr5:147699600-147700400	Active TSS	HMEC	breast
31	chr5:147699600-147700400	Active TSS	HSMM	muscle
32	chr5:147699600-147700400	Active TSS	HUVEC	blood vessel
33	chr5:147699600-147700600	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr5:147699600-147700600	Active TSS	H1 Cell Line	embryonic stem cell
35	chr5:147699600-147700600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:147699600-147700600	Active TSS	Primary T cells from cord blood	blood
37	chr5:147699600-147700600	Active TSS	Primary T cells fromperipheralblood	blood
38	chr5:147699600-147700600	Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr5:147699600-147700600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr5:147699600-147700600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:147699600-147700600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:147699600-147700600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:147699600-147700600	Active TSS	Muscle Satellite Cultured Cells	--
44	chr5:147699600-147700600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:147699600-147700600	Active TSS	Adipose Nuclei	Adipose
46	chr5:147699600-147700600	Active TSS	Liver	Liver
47	chr5:147699600-147700600	Active TSS	Esophagus	oesophagus
48	chr5:147699600-147700600	Active TSS	Fetal Intestine Large	intestine
49	chr5:147699600-147700600	Active TSS	Fetal Thymus	thymus
50	chr5:147699600-147700600	Active TSS	Pancreas	Pancrea

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