Variant report

Variant	rs7528026
Chromosome Location	chr1:155147781-155147782
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	CTCF	chr1:155147760-155147910	A549	lung:	n/a	n/a
2	MXI1	chr1:155144639-155149713	SK-N-SH	brain:	n/a	chr1:155146252-155146261 chr1:155146254-155146263 chr1:155146972-155146987 chr1:155146974-155146989 chr1:155146863-155146872
3	POLR2A	chr1:155147446-155152948	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:155107108..155109934-chr1:155145596..155147858,3	K562	blood:
2	chr1:155143901..155153030-chr1:155191166..155199183,23	MCF-7	breast:
3	chr1:155095314..155110392-chr1:155134312..155151496,72	MCF-7	breast:
4	chr1:155111752..155114583-chr1:155147267..155150123,4	MCF-7	breast:
5	chr1:155140499..155142005-chr1:155147734..155150654,2	K562	blood:
6	chr1:155105664..155110180-chr1:155143584..155151850,15	MCF-7	breast:
7	chr1:155107108..155109985-chr1:155144527..155147858,5	K562	blood:
8	chr1:155094769..155105017-chr1:155135344..155151845,46	MCF-7	breast:
9	chr1:155146543..155149271-chr1:155213227..155215655,2	K562	blood:
10	chr1:155146416..155150261-chr1:155194777..155198198,7	MCF-7	breast:

Variant related genes	Relation type
KRTCAP2	TF binding region
ENSG00000169241	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000179085	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000177628	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs41264911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv464084	chr1:155082298-155194980	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
4	nsv547961	chr1:155082298-155194980	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
5	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	434 gene(s)	inside rSNPs	diseases
6	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
7	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
8	nsv470741	chr1:155115260-155230131	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
9	nsv1010146	chr1:155119096-155201064	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
10	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
11	nsv8447	chr1:155144629-155156937	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
12	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
13	nsv872458	chr1:155146102-155180466	Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	316 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155144800-155147800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr1:155144800-155147800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:155145000-155147800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:155145000-155147800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:155145000-155147800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:155145000-155147800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr1:155145000-155148000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:155145000-155148000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr1:155145200-155147800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr1:155145200-155147800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:155145200-155148000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:155145800-155147800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:155145800-155148000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:155145800-155148000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr1:155145800-155148000	Flanking Active TSS	Fetal Thymus	thymus
16	chr1:155146000-155147800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:155146000-155148000	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr1:155146000-155148000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:155146200-155147800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:155146200-155148000	Active TSS	Brain Angular Gyrus	brain
21	chr1:155146400-155148800	Weak transcription	Hela-S3	cervix
22	chr1:155146400-155157600	Weak transcription	Right Atrium	heart
23	chr1:155146600-155147800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:155146600-155147800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:155146600-155148000	Bivalent Enhancer	Stomach Mucosa	stomach
26	chr1:155146600-155148000	Enhancers	Spleen	Spleen
27	chr1:155146600-155149200	Weak transcription	Pancreas	Pancrea
28	chr1:155146600-155163000	Weak transcription	Aorta	Aorta
29	chr1:155146800-155147800	Enhancers	Primary T cells from cord blood	blood
30	chr1:155146800-155148000	Active TSS	NHDF-Ad	bronchial
31	chr1:155146800-155148400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:155146800-155148600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:155146800-155148600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:155146800-155148800	Active TSS	Brain Anterior Caudate	brain
35	chr1:155146800-155148800	Weak transcription	K562	blood
36	chr1:155146800-155150400	Enhancers	GM12878-XiMat	blood
37	chr1:155146800-155150800	Enhancers	Gastric	stomach
38	chr1:155147000-155147800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:155147000-155148000	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr1:155147000-155148800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:155147000-155149000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr1:155147000-155149600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr1:155147000-155149600	Enhancers	A549	lung
44	chr1:155147200-155147800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:155147200-155147800	Enhancers	HMEC	breast
46	chr1:155147200-155148000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr1:155147200-155148000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:155147200-155148000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr1:155147200-155148200	Enhancers	Dnd41	blood
50	chr1:155147200-155149000	Weak transcription	HSMM	muscle

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