Variant report

Variant	rs376089753
Chromosome Location	chr1:172420762-172420763
allele	A/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	GATA3	chr1:172419512-172420777	MCF-7	breast:	n/a	chr1:172420461-172420468 chr1:172420461-172420468 chr1:172420459-172420469 chr1:172420461-172420468 chr1:172420461-172420471 chr1:172420223-172420232
2	GATA3	chr1:172420133-172420771	SK-N-SH	brain:	n/a	chr1:172420461-172420468 chr1:172420461-172420468 chr1:172420459-172420469 chr1:172420461-172420468 chr1:172420461-172420471 chr1:172420223-172420232
3	FOXA1	chr1:172420162-172420768	HepG2	liver:	n/a	chr1:172420470-172420482 chr1:172420560-172420575
4	FOXA2	chr1:172420211-172420810	A549	lung:	n/a	chr1:172420470-172420482
5	FOXA2	chr1:172420221-172420954	A549	lung:	n/a	chr1:172420470-172420482
6	GATA3	chr1:172420002-172420856	A549	lung:	n/a	chr1:172420461-172420468 chr1:172420461-172420468 chr1:172420459-172420469 chr1:172420461-172420468 chr1:172420461-172420471 chr1:172420223-172420232
7	CTCF	chr1:172417456-172420817	A549	lung:	n/a	chr1:172419229-172419247 chr1:172420251-172420259 chr1:172419777-172419790 chr1:172419234-172419242 chr1:172419231-172419252
8	TCF7L2	chr1:172419268-172421000	HEK293	kidney:	n/a	chr1:172420414-172420428 chr1:172420417-172420426 chr1:172420413-172420429 chr1:172420416-172420425 chr1:172420413-172420429
9	TCF7L2	chr1:172419951-172420846	HepG2	liver:	n/a	chr1:172420414-172420428 chr1:172420417-172420426 chr1:172420413-172420429 chr1:172420416-172420425 chr1:172420413-172420429
10	GATA1	chr1:172419113-172420914	PBDE	blood:	n/a	chr1:172420461-172420468 chr1:172420893-172420904 chr1:172420461-172420468 chr1:172420459-172420469 chr1:172420461-172420468 chr1:172420461-172420471 chr1:172420223-172420232
11	POLR2A	chr1:172418384-172420817	PBDE	blood:	n/a	n/a
12	FOXA2	chr1:172419970-172420957	HepG2	liver:	n/a	chr1:172420470-172420482
13	SIN3AK20	chr1:172417803-172420812	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:172419256..172421468-chr1:172500783..172504604,4	K562	blood:
2	chr1:172411084..172422561-chr1:172496524..172504623,44	MCF-7	breast:
3	chr1:172412087..172424934-chr1:172497120..172505334,59	MCF-7	breast:

Variant related genes	Relation type
C1orf105	TF binding region
ENSG00000094975	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv947449	chr1:172419586-172424910	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172413600-172421800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:172413600-172421800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:172417200-172421800	Weak transcription	Psoas Muscle	Psoas
4	chr1:172417200-172423200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr1:172417600-172420800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:172417800-172420800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:172417800-172420800	Enhancers	Fetal Kidney	kidney
8	chr1:172418000-172420800	Enhancers	HUVEC	blood vessel
9	chr1:172418000-172422200	Enhancers	NH-A	brain
10	chr1:172419200-172420800	Enhancers	Fetal Heart	heart
11	chr1:172419200-172420800	Enhancers	Osteobl	bone
12	chr1:172419400-172422200	Weak transcription	Brain Substantia Nigra	brain
13	chr1:172419600-172421400	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:172419600-172421600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:172419600-172422000	Weak transcription	Right Ventricle	heart
16	chr1:172419600-172423200	Enhancers	K562	blood
17	chr1:172419600-172426000	Enhancers	Fetal Intestine Large	intestine
18	chr1:172419800-172421400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:172419800-172421400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:172419800-172421400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:172419800-172424400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:172420000-172420800	Flanking Active TSS	HepG2	liver
23	chr1:172420000-172421600	Weak transcription	Gastric	stomach
24	chr1:172420000-172421800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:172420200-172420800	Enhancers	A549	lung
26	chr1:172420200-172421600	Weak transcription	Right Atrium	heart
27	chr1:172420200-172426000	Enhancers	Fetal Intestine Small	intestine
28	chr1:172420400-172421400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:172420400-172421400	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:172420400-172421400	Weak transcription	Stomach Mucosa	stomach
31	chr1:172420400-172421400	Weak transcription	HSMMtube	muscle
32	chr1:172420400-172421600	Weak transcription	Esophagus	oesophagus
33	chr1:172420400-172421600	Weak transcription	Left Ventricle	heart
34	chr1:172420400-172421600	Weak transcription	Pancreas	Pancrea
35	chr1:172420400-172421800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:172420400-172421800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:172420400-172421800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:172420400-172421800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:172420400-172422000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:172420400-172422400	Enhancers	Hela-S3	cervix
41	chr1:172420400-172422800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr1:172420400-172425400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:172420600-172421000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:172420600-172421600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:172420600-172421600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:172420600-172421600	Weak transcription	Placenta	Placenta
47	chr1:172420600-172421600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr1:172420600-172421800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:172420600-172422800	Weak transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links