Variant report

Variant	rs1003725
Chromosome Location	chr1:156130654-156130655
allele	C/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	chr1:156130638-156130922	K562	blood:	n/a	n/a
2	MAX	chr1:156130652-156130816	K562	blood:	n/a	n/a
3	RCOR1	chr1:156130547-156130854	K562	blood:	n/a	n/a
4	TAF1	chr1:156130570-156130908	H1-hESC	embryonic stem cell:	n/a	n/a
5	SP1	chr1:156130566-156130949	H1-hESC	embryonic stem cell:	n/a	chr1:156130837-156130847 chr1:156130830-156130839 chr1:156130836-156130848 chr1:156130682-156130691 chr1:156130680-156130692 chr1:156130833-156130847 chr1:156130838-156130847 chr1:156130836-156130848 chr1:156130837-156130846 chr1:156130838-156130847 chr1:156130681-156130690 chr1:156130831-156130840 chr1:156130681-156130691 chr1:156130837-156130847 chr1:156130680-156130692
6	MAX	chr1:156130478-156130931	K562	blood:	n/a	chr1:156130830-156130840
7	MAZ	chr1:156130076-156131702	IMR90	lung:	n/a	chr1:156130830-156130840
8	TAF1	chr1:156130607-156130874	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr1:156130615-156130920	K562	blood:	n/a	n/a
10	POLR2A	chr1:156130612-156130791	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:156130602-156130914	K562	blood:	n/a	n/a
12	POLR2A	chr1:156130620-156130998	HUVEC	blood vessel:	n/a	n/a
13	GTF2B	chr1:156130624-156130813	K562	blood:	n/a	n/a
14	POLR2A	chr1:156130602-156130910	SK-N-SH	brain:	n/a	n/a
15	ELF1	chr1:156130350-156130909	GM12878	blood:	n/a	chr1:156130834-156130846
16	HEY1	chr1:156130605-156130899	K562	blood:	n/a	chr1:156130832-156130847 chr1:156130825-156130840
17	EGR1	chr1:156130523-156130959	K562	blood:	n/a	chr1:156130832-156130845 chr1:156130836-156130846 chr1:156130684-156130694 chr1:156130837-156130847
18	POLR2A	chr1:156130604-156130849	IMR90	lung:	n/a	n/a
19	JUND	chr1:156130580-156130827	K562	blood:	n/a	n/a
20	TAF1	chr1:156130560-156130934	K562	blood:	n/a	n/a
21	YY1	chr1:156130539-156130933	K562	blood:	n/a	chr1:156130837-156130846
22	MAZ	chr1:156130613-156130951	K562	blood:	n/a	chr1:156130830-156130840
23	POLR2A	chr1:156130433-156130912	SK-N-MC	brain:	n/a	n/a
24	YY1	chr1:156130572-156130838	K562	blood:	n/a	n/a
25	E2F6	chr1:156130572-156130965	K562	blood:	n/a	chr1:156130837-156130846
26	MAX	chr1:156130591-156130918	K562	blood:	n/a	chr1:156130830-156130840
27	EGR1	chr1:156130546-156130937	K562	blood:	n/a	chr1:156130832-156130845 chr1:156130836-156130846 chr1:156130684-156130694 chr1:156130837-156130847
28	FOXA2	chr1:156130340-156130810	A549	lung:	n/a	n/a
29	E2F6	chr1:156130579-156131524	K562	blood:	n/a	chr1:156130837-156130846
30	HEY1	chr1:156130582-156130861	K562	blood:	n/a	chr1:156130832-156130847 chr1:156130825-156130840
31	ZBTB7A	chr1:156130493-156130976	K562	blood:	n/a	n/a
32	POLR2A	chr1:156129847-156131553	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:156123079..156127496-chr1:156128511..156132258,8	MCF-7	breast:
2	chr1:156128675..156132824-chr1:156181365..156185783,8	K562	blood:
3	chr1:156115833..156117739-chr1:156130204..156132306,2	K562	blood:
4	chr1:156114853..156117739-chr1:156130204..156133056,2	K562	blood:
5	chr1:156123983..156126870-chr1:156130411..156133656,3	K562	blood:
6	chr1:156121785..156125771-chr1:156127974..156133656,8	K562	blood:
7	chr1:156128270..156132924-chr1:156182023..156185783,5	K562	blood:
8	chr1:156129486..156134123-chr1:156162122..156168206,8	K562	blood:
9	chr1:156129327..156133207-chr1:156161798..156165671,6	K562	blood:

Variant related genes	Relation type
SEMA4A	TF binding region
ENSG00000260238	Chromatin interaction
ENSG00000160783	Chromatin interaction
ENSG00000160785	Chromatin interaction
ENSG00000196189	Chromatin interaction
ENSG00000252236	Chromatin interaction

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

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

rs_ID	r²[population]
rs57162247	1.00[AMR][1000 genomes]
rs59417251	1.00[AMR][1000 genomes]
rs6685797	1.00[AMR][1000 genomes]
rs6689656	1.00[AMR][1000 genomes]
rs73004969	1.00[AMR][1000 genomes]
rs7512584	1.00[AMR][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	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases
2	nsv1011302	chr1:156081561-156532624	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	380 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:156116600-156131000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:156124000-156147800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:156124200-156131200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:156124200-156147600	Weak transcription	HMEC	breast
5	chr1:156126600-156130800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
6	chr1:156128000-156131200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr1:156128200-156133200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:156128400-156131400	Enhancers	Fetal Thymus	thymus
9	chr1:156128800-156130800	Genic enhancers	GM12878-XiMat	blood
10	chr1:156129000-156130800	Genic enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:156129600-156130800	Genic enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:156129600-156130800	Strong transcription	NHEK	skin
13	chr1:156129600-156131200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:156129600-156131200	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:156129800-156130800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr1:156129800-156131200	Enhancers	Brain Angular Gyrus	brain
17	chr1:156129800-156131400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:156129800-156131400	Enhancers	Lung	lung
19	chr1:156129800-156133000	Genic enhancers	Spleen	Spleen
20	chr1:156129800-156133200	Enhancers	Gastric	stomach
21	chr1:156129800-156134200	Enhancers	Fetal Heart	heart
22	chr1:156130000-156130800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:156130000-156130800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:156130000-156130800	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr1:156130000-156132000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:156130200-156130800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr1:156130200-156130800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr1:156130200-156130800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr1:156130200-156130800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr1:156130200-156130800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr1:156130200-156130800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr1:156130200-156131000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:156130200-156131400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:156130200-156131400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:156130200-156131400	Active TSS	H9 Cell Line	embryonic stem cell
36	chr1:156130200-156131400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:156130200-156131400	Enhancers	Colonic Mucosa	Colon
38	chr1:156130200-156131400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr1:156130200-156131800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:156130400-156130800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
41	chr1:156130400-156130800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:156130400-156130800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:156130400-156130800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr1:156130400-156130800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr1:156130400-156130800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr1:156130400-156130800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr1:156130400-156130800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:156130400-156130800	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr1:156130400-156130800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:156130400-156130800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links