Variant report

Variant	rs544940632
Chromosome Location	chr1:62390961-62390962
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	FOXA2	chr1:62390735-62391014	A549	lung:	n/a	n/a
2	CTCF	chr1:62390881-62390971	K562	blood:	n/a	n/a
3	EGR1	chr1:62390874-62390975	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62386847..62388901-chr1:62390027..62391721,2	K562	blood:

Variant related genes	Relation type
INADL	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693319	chr1:62207254-62402549	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv518627	chr1:62279594-62517947	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv522020	chr1:62279594-62517947	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv531876	chr1:62302313-62504349	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv2549769	chr1:62389768-62391594	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv6133	chr1:62390344-62391194	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2323512	chr1:62390382-62391145	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3525043	chr1:62390499-62391018	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3525039	chr1:62390502-62391010	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3320074	chr1:62390504-62391015	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3525042	chr1:62390516-62390966	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3320072	chr1:62390525-62391004	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3525044	chr1:62390542-62390999	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv5270	chr1:62390550-62391028	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3525041	chr1:62390551-62390981	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3353266	chr1:62390554-62390962	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3381856	chr1:62390562-62390969	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62336000-62408600	Weak transcription	Pancreas	Pancrea
2	chr1:62340400-62399200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:62346200-62417600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:62350200-62397600	Weak transcription	Esophagus	oesophagus
5	chr1:62350600-62391600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:62350600-62428200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:62350800-62395800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:62350800-62397800	Weak transcription	Primary T cells from cord blood	blood
9	chr1:62350800-62417600	Weak transcription	Ovary	ovary
10	chr1:62353600-62396000	Weak transcription	Fetal Kidney	kidney
11	chr1:62353800-62408800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:62361600-62391800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:62361600-62408800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:62362000-62408600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:62363000-62391800	Weak transcription	Stomach Mucosa	stomach
16	chr1:62363400-62391400	Weak transcription	A549	lung
17	chr1:62372400-62408800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:62372400-62417600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:62374600-62410600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:62375200-62404600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:62376200-62417600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:62377200-62396600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:62379400-62393600	Weak transcription	Right Ventricle	heart
24	chr1:62379800-62392800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:62380600-62408600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr1:62380800-62395800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:62380800-62410000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:62381000-62393200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:62381000-62393600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:62381000-62408200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:62381000-62416000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:62381200-62394600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:62381200-62417400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:62381200-62418400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:62381600-62402800	Weak transcription	HepG2	liver
36	chr1:62382400-62393400	Weak transcription	Liver	Liver
37	chr1:62383400-62408000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:62384600-62391800	Weak transcription	Gastric	stomach
39	chr1:62384600-62403000	Weak transcription	Fetal Stomach	stomach
40	chr1:62384600-62408200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:62384600-62408800	Weak transcription	Fetal Intestine Large	intestine
42	chr1:62385000-62494200	Weak transcription	Aorta	Aorta
43	chr1:62385400-62394800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:62385400-62408400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:62385400-62408600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr1:62386000-62394800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:62386000-62408600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:62386200-62397000	Weak transcription	Fetal Intestine Small	intestine
49	chr1:62387000-62394800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:62388400-62394600	Weak transcription	HMEC	breast

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