Variant report

Variant	rs112156842
Chromosome Location	chr1:228135885-228135886
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	HA-E2F1	chr1:228134238-228136316	MCF-7	breast:	n/a	chr1:228136050-228136059
2	POLR2A	chr1:228135236-228135948	MCF-7	breast:	n/a	n/a
3	POLR2A	chr1:228135743-228136028	H1-neurons	neurons:	n/a	n/a
4	CTBP2	chr1:228135569-228136528	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr1:228135499-228135931	HCT-116	colon:	n/a	chr1:228135666-228135680
6	TBP	chr1:228135295-228135950	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:228135453-228135898	A549	lung:	n/a	n/a
8	MAX	chr1:228133816-228135987	ECC-1	luminal epithelium:	n/a	chr1:228135877-228135887 chr1:228134844-228134855 chr1:228134529-228134540
9	SIN3A	chr1:228135507-228136571	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr1:228135446-228136085	PANC-1	pancreas:	n/a	n/a
11	TCF12	chr1:228133787-228136169	ECC-1	luminal epithelium:	n/a	chr1:228134156-228134166 chr1:228134108-228134115
12	POLR2A	chr1:228135253-228136069	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr1:228135319-228135894	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZBTB7A	chr1:228135687-228136429	ECC-1	luminal epithelium:	n/a	chr1:228135964-228135973
15	POLR2A	chr1:228135727-228135921	A549	lung:	n/a	n/a
16	POLR2A	chr1:228135730-228136074	PANC-1	pancreas:	n/a	n/a
17	HMGN3	chr1:228133998-228136236	K562	blood:	n/a	chr1:228134130-228134139 chr1:228134127-228134136
18	HA-E2F1	chr1:228135170-228136222	Hela-S3	cervix:	n/a	chr1:228136050-228136059
19	POLR2A	chr1:228135403-228136045	ECC-1	luminal epithelium:	n/a	n/a
20	ZBTB7A	chr1:228135308-228136203	K562	blood:	n/a	chr1:228135964-228135973
21	POLR2A	chr1:228135261-228136143	HUVEC	blood vessel:	n/a	n/a
22	SMARCB1	chr1:228135104-228136347	Hela-S3	cervix:	n/a	n/a
23	TFAP2C	chr1:228135505-228136530	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr1:228135410-228135984	A549	lung:	n/a	n/a
25	BACH1	chr1:228135830-228135964	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZBTB7A	chr1:228135564-228136326	ECC-1	luminal epithelium:	n/a	chr1:228135964-228135973
27	UBTF	chr1:228133969-228136371	K562	blood:	n/a	n/a
28	POLR2A	chr1:228135185-228136050	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr1:228135302-228135927	ProgFib	skin:	n/a	n/a
30	POLR2A	chr1:228135343-228135888	MCF-7	breast:	n/a	n/a
31	CTCF	chr1:228135840-228135990	AG04449	skin:	n/a	n/a
32	MAZ	chr1:228135201-228136357	Hela-S3	cervix:	n/a	chr1:228135877-228135887
33	POLR2A	chr1:228135315-228136053	Gliobla	brain:	n/a	n/a
34	POLR2A	chr1:228135160-228136006	HCT-116	colon:	n/a	n/a
35	TFAP2A	chr1:228135431-228136358	Hela-S3	cervix:	n/a	chr1:228135992-228136004 chr1:228135992-228136004 chr1:228135992-228136004 chr1:228135995-228136003 chr1:228135995-228136003 chr1:228135992-228136004 chr1:228135995-228136003
36	CHD2	chr1:228135636-228135926	Hela-S3	cervix:	n/a	n/a
37	SIN3AK20	chr1:228135047-228136318	PANC-1	pancreas:	n/a	n/a
38	E2F1	chr1:228135157-228136119	Hela-S3	cervix:	n/a	chr1:228135559-228135571 chr1:228136050-228136059
39	POLR2A	chr1:228135424-228135921	A549	lung:	n/a	n/a
40	E2F6	chr1:228135454-228135927	K562	blood:	n/a	chr1:228135559-228135571
41	MAX	chr1:228133768-228136454	A549	lung:	n/a	chr1:228135877-228135887 chr1:228134844-228134855 chr1:228134529-228134540
42	CTCF	chr1:228135665-228135976	K562	blood:	n/a	n/a
43	CCNT2	chr1:228135235-228136138	K562	blood:	n/a	chr1:228136017-228136026 chr1:228136012-228136021
44	POLR2A	chr1:228135384-228135947	HUVEC	blood vessel:	n/a	n/a
45	MAZ	chr1:228135509-228136278	K562	blood:	n/a	chr1:228135877-228135887
46	CTCF	chr1:228135743-228135936	K562	blood:	n/a	n/a
47	POLR2A	chr1:228135429-228136036	HEK293	kidney:	n/a	n/a
48	POLR2A	chr1:228135320-228136053	HCT-116	colon:	n/a	n/a
49	MAX	chr1:228135479-228135987	Hela-S3	cervix:	n/a	chr1:228135877-228135887
50	POLR2A	chr1:228135758-228135943	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:227916221..227923035-chr1:228131852..228141791,18	MCF-7	breast:
2	chr1:228128193..228132003-chr1:228132864..228136285,5	K562	blood:
3	chr1:227962379..227965351-chr1:228135797..228137632,2	MCF-7	breast:

Variant related genes	Relation type
WNT9A	TF binding region
ENSG00000143740	Chromatin interaction
ENSG00000264483	Chromatin interaction
ENSG00000081692	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS 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	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv1005852	chr1:227957099-228148363	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	8 gene(s)	inside rSNPs	diseases
6	nsv535319	chr1:227957099-228148363	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
7	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
9	nsv873251	chr1:228051234-228160911	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	esv3344015	chr1:228134354-228137302	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	esv3428054	chr1:228134779-228136852	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228133800-228136400	Active TSS	NHLF	lung
2	chr1:228134000-228136000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:228134000-228136000	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr1:228134000-228136200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr1:228134000-228136400	Active TSS	Psoas Muscle	Psoas
6	chr1:228134200-228136200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:228134200-228136200	Enhancers	Liver	Liver
8	chr1:228134200-228136200	Active TSS	HSMM	muscle
9	chr1:228134200-228136400	Active TSS	Ovary	ovary
10	chr1:228134200-228136400	Active TSS	HSMMtube	muscle
11	chr1:228134200-228136800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr1:228134400-228136000	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr1:228134400-228136200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr1:228134400-228136200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:228134400-228136200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:228134400-228136200	Active TSS	Brain Anterior Caudate	brain
17	chr1:228134400-228136200	Active TSS	Colon Smooth Muscle	Colon
18	chr1:228134400-228136200	Active TSS	Esophagus	oesophagus
19	chr1:228134400-228136200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
20	chr1:228134400-228136200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr1:228134400-228136200	Active TSS	Fetal Stomach	stomach
22	chr1:228134400-228136200	Active TSS	Gastric	stomach
23	chr1:228134400-228136200	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr1:228134400-228136200	Active TSS	A549	lung
25	chr1:228134400-228136400	Active TSS	Left Ventricle	heart
26	chr1:228134400-228136400	Active TSS	Rectal Smooth Muscle	rectum
27	chr1:228134400-228136600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:228134400-228136800	Active TSS	Hela-S3	cervix
29	chr1:228134600-228136000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
30	chr1:228134600-228136200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr1:228134600-228136200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr1:228134600-228136200	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr1:228134600-228136200	Active TSS	Aorta	Aorta
34	chr1:228134600-228136200	Bivalent/Poised TSS	Fetal Brain Female	brain
35	chr1:228134600-228136200	Active TSS	Lung	lung
36	chr1:228134600-228136200	Active TSS	NHDF-Ad	bronchial
37	chr1:228134600-228136400	Active TSS	Brain Angular Gyrus	brain
38	chr1:228134600-228136600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:228134600-228136600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:228134600-228136800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr1:228134800-228136000	Active TSS	Fetal Muscle Leg	muscle
42	chr1:228134800-228136200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:228134800-228136200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
44	chr1:228134800-228136200	Active TSS	Fetal Lung	lung
45	chr1:228134800-228136200	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr1:228134800-228136200	Active TSS	Stomach Smooth Muscle	stomach
47	chr1:228134800-228136400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:228134800-228136400	Active TSS	Right Atrium	heart
49	chr1:228135000-228136000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
50	chr1:228135000-228136000	Active TSS	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links