Variant report

Variant	rs561705225
Chromosome Location	chr1:159896106-159896107
allele	-/CTTT
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	chr1:159892253-159896642	MCF10A-Er-Src	breast:	n/a	n/a
2	BHLHE40	chr1:159892817-159896190	K562	blood:	n/a	chr1:159894517-159894533 chr1:159894378-159894394
3	POLR2A	chr1:159887120-159896155	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:159892512-159896295	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:159893431-159896152	HepG2	liver:	n/a	n/a
6	SMARCC1	chr1:159892553-159896281	Hela-S3	cervix:	n/a	chr1:159894426-159894435 chr1:159894427-159894436
7	POLR2A	chr1:159896045-159896291	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr1:159891068-159896259	K562	blood:	n/a	n/a
9	HMGN3	chr1:159895940-159896322	K562	blood:	n/a	n/a
10	POLR2A	chr1:159896066-159896340	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:159892652-159896579	MCF10A-Er-Src	breast:	n/a	n/a
12	MAZ	chr1:159891646-159896166	K562	blood:	n/a	chr1:159895718-159895727 chr1:159894805-159894816 chr1:159895716-159895731 chr1:159894426-159894435 chr1:159892136-159892146 chr1:159893593-159893602
13	POLR2A	chr1:159891193-159896946	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr1:159891635-159896280	K562	blood:	n/a	n/a
15	CHD1	chr1:159890529-159896283	IMR90	lung:	n/a	chr1:159895384-159895391 chr1:159894935-159894945 chr1:159894333-159894343
16	POLR2A	chr1:159891006-159897146	IMR90	lung:	n/a	n/a
17	GTF2F1	chr1:159894130-159896453	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr1:159894986-159896370	SK-N-MC	brain:	n/a	n/a
19	JUN	chr1:159891636-159896116	K562	blood:	n/a	chr1:159894426-159894436 chr1:159894427-159894436 chr1:159894622-159894633 chr1:159893456-159893465 chr1:159894457-159894467 chr1:159894425-159894437 chr1:159894383-159894392 chr1:159894426-159894435
20	HCFC1	chr1:159895957-159896133	K562	blood:	n/a	n/a
21	ZNF263	chr1:159892571-159896313	HEK293-T-REx	kidney:	n/a	chr1:159893567-159893576 chr1:159894108-159894117
22	BRCA1	chr1:159896094-159896246	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr1:159892810-159896339	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr1:159892920-159896207	Raji	blood:	n/a	n/a
25	MAZ	chr1:159891364-159896134	IMR90	lung:	n/a	chr1:159895718-159895727 chr1:159894805-159894816 chr1:159895716-159895731 chr1:159894426-159894435 chr1:159892136-159892146 chr1:159893593-159893602
26	POLR2A	chr1:159887143-159896607	A549	lung:	n/a	n/a
27	MAFK	chr1:159894098-159896324	Hela-S3	cervix:	n/a	chr1:159894947-159894961 chr1:159894946-159894962

No.	Distal block	Cell Line	Cell type
1	chr1:159867714..159872753-chr1:159888238..159897653,26	MCF-7	breast:
2	chr1:159893111..159896488-chr1:159998687..160003248,7	K562	blood:
3	chr1:159847755..159854345-chr1:159891168..159896645,10	K562	blood:
4	chr1:159893029..159897081-chr1:159913897..159916842,4	K562	blood:
5	chr1:159895030..159897330-chr1:160336317..160337995,2	K562	blood:
6	chr1:159894132..159896296-chr1:159999547..160002984,5	MCF-7	breast:
7	chr1:159895581..159897596-chr1:159914205..159917814,3	K562	blood:
8	chr1:159893567..159896564-chr1:160230805..160232399,2	K562	blood:
9	chr1:159892760..159896965-chr1:159922291..159925141,4	K562	blood:
10	chr1:159749654..159753650-chr1:159893129..159897064,5	K562	blood:
11	chr1:159895690..159897538-chr1:159952889..159955183,2	MCF-7	breast:
12	chr1:159849524..159855838-chr1:159893211..159898295,8	MCF-7	breast:

Variant related genes	Relation type
TAGLN2	TF binding region
ENSG00000132716	Chromatin interaction
ENSG00000143315	Chromatin interaction
ENSG00000162723	Chromatin interaction
ENSG00000085552	Chromatin interaction
ENSG00000171786	Chromatin interaction
ENSG00000213085	Chromatin interaction
ENSG00000228606	Chromatin interaction
ENSG00000158716	Chromatin interaction
ENSG00000266458	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv872489	chr1:159844819-159940000	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv464150	chr1:159860917-159908393	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv548052	chr1:159860917-159908393	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv548053	chr1:159885500-159908393	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
6	nsv524006	chr1:159886422-159923111	Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv516637	chr1:159889686-159908393	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	62 gene(s)	inside rSNPs	diseases
8	nsv548054	chr1:159895979-159907441	Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159894600-159896200	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr1:159894800-159896200	Active TSS	Psoas Muscle	Psoas
3	chr1:159895200-159896200	Flanking Active TSS	HMEC	breast
4	chr1:159895400-159896200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:159895400-159896200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr1:159895400-159896200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr1:159895400-159896200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:159895400-159896200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:159895400-159896200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:159895400-159896200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
11	chr1:159895400-159896200	Flanking Active TSS	Fetal Lung	lung
12	chr1:159895400-159896200	Flanking Active TSS	Hela-S3	cervix
13	chr1:159895400-159896400	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr1:159895400-159896400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr1:159895600-159896200	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr1:159895600-159896200	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr1:159895600-159896200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr1:159895600-159896400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr1:159895600-159896400	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr1:159895600-159896400	Flanking Active TSS	A549	lung
21	chr1:159895600-159896600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:159895600-159896600	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr1:159895600-159898200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:159895800-159896200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:159895800-159896200	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr1:159895800-159896200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:159895800-159896200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:159895800-159896200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:159895800-159896200	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr1:159895800-159896200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr1:159895800-159896400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:159895800-159896400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
33	chr1:159895800-159896400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:159895800-159896400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr1:159895800-159896400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:159895800-159896400	Enhancers	Liver	Liver
37	chr1:159895800-159896400	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr1:159895800-159896400	Flanking Active TSS	Right Ventricle	heart
39	chr1:159895800-159896400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr1:159895800-159896600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:159895800-159896600	Enhancers	Fetal Heart	heart
42	chr1:159895800-159896800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:159895800-159898800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:159895800-159899000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:159895800-159899200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:159895800-159906600	Weak transcription	Small Intestine	intestine
47	chr1:159896000-159896200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:159896000-159896200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:159896000-159896200	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr1:159896000-159896200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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