Variant report

Variant	rs2331901
Chromosome Location	chr1:180894304-180894305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr1:180894177-180894479	GM12878	blood:	n/a	chr1:180894322-180894331 chr1:180894396-180894405 chr1:180894313-180894331
2	PAX5	chr1:180894059-180894535	GM12878	blood:	n/a	chr1:180894322-180894331 chr1:180894396-180894405 chr1:180894313-180894331
3	EP300	chr1:180894092-180899177	SK-N-SH	brain:	n/a	chr1:180896188-180896202
4	PAX5	chr1:180894136-180894483	GM12878	blood:	n/a	chr1:180894322-180894331 chr1:180894396-180894405 chr1:180894313-180894331
5	USF1	chr1:180894239-180894422	HepG2	liver:	n/a	chr1:180894360-180894371
6	PAX5	chr1:180894240-180894404	GM12878	blood:	n/a	chr1:180894322-180894331 chr1:180894313-180894331
7	SPI1	chr1:180894303-180894443	K562	blood:	n/a	n/a
8	SPI1	chr1:180894216-180894494	GM12891	blood:	n/a	n/a
9	SPI1	chr1:180894229-180894505	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:180894260-180894310	Hepatocyte	liver:	n/a
2	chr1:180894260-180894310	GM12891	blood:	n/a
3	chr1:180894260-180894310	HEEpiC	esophagus:	n/a
4	chr1:180894260-180894310	HAEpiC	amniotic membrane:	n/a
5	chr1:180894260-180894310	AG09319	gingival:	n/a
6	chr1:180894260-180894310	GM12878	blood:	n/a
7	chr1:180894260-180894310	AoSMC	blood vessel:	n/a
8	chr1:180894260-180894310	PANC-1	pancreas:	n/a
9	chr1:180894260-180894310	PFSK-1	brain:	n/a
10	chr1:180894260-180894310	HUVEC	blood vessel:	n/a
11	chr1:180894260-180894310	IMR90	lung:	fetal
12	chr1:180894260-180894310	ECC-1	luminal epithelium:	n/a
13	chr1:180894260-180894310	HL-60	blood:	n/a
14	chr1:180894260-180894310	NHDF-neo	bronchial:	n/a
15	chr1:180894260-180894310	Hela-S3	cervix:	n/a
16	chr1:180894260-180894310	RPTEC	kidney:	n/a
17	chr1:180894260-180894310	Jurkat	blood:	n/a
18	chr1:180894260-180894310	HNPCEpiC	eye:	n/a
19	chr1:180894260-180894310	HCT-116	colon:	n/a
20	chr1:180894260-180894310	AG04449	skin:	fetal
21	chr1:180894260-180894310	ovcar-3	ovarian:	n/a
22	chr1:180894260-180894310	HCPEpiC	choroid plexus:	n/a
23	chr1:180894260-180894310	SAEC	small airway:	n/a
24	chr1:180894260-180894310	NH-A	brain:	n/a
25	chr1:180894260-180894310	PrEC	prostate:	n/a
26	chr1:180894260-180894310	Caco-2	colon:	n/a
27	chr1:180894260-180894310	HIPEpiC	eye:	n/a
28	chr1:180894260-180894310	MCF10A-Er-Src	breast:	n/a
29	chr1:180894260-180894310	HCM	heart:	n/a
30	chr1:180894260-180894310	T-47D	breast:	n/a
31	chr1:180894260-180894310	K562	blood:	n/a
32	chr1:180894260-180894310	NHBE	bronchial:	n/a
33	chr1:180894260-180894310	U87	brain:	n/a
34	chr1:180894260-180894310	HRPEpiC	eye:	n/a
35	chr1:180894260-180894310	SK-N-MC	brain:	n/a
36	chr1:180894260-180894310	HPAEpiC	pulmonary alveolar:	n/a
37	chr1:180894260-180894310	SKMC	muscle:	n/a
38	chr1:180894260-180894310	GM06990	blood:	n/a
39	chr1:180894260-180894310	HRE	kidney:	n/a
40	chr1:180894260-180894310	HRCEpiC	kidney:	n/a
41	chr1:180894260-180894310	A549	lung:	n/a
42	chr1:180894260-180894310	ProgFib	skin:	n/a
43	chr1:180894260-180894310	HEK293	kidney:	embryo
44	chr1:180894260-180894310	HMEC	breast:	n/a
45	chr1:180894260-180894310	AG09309	skin:	n/a
46	chr1:180894260-180894310	HepG2	liver:	n/a
47	chr1:180894260-180894310	AG10803	skin:	n/a
48	chr1:180894260-180894310	SK-N-SH	brain:	n/a
49	chr1:180894260-180894310	SK-N-SH_RA	brain:	n/a
50	chr1:180894260-180894310	MCF-7	breast:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180892623..180894701-chr1:180898056..180900567,2	MCF-7	breast:
2	chr1:180875236..180876989-chr1:180891969..180894800,2	K562	blood:
3	chr1:180894020..180896970-chr1:180921543..180923993,2	MCF-7	breast:
4	chr1:180893452..180895106-chr1:180898363..180900238,2	K562	blood:
5	chr1:180892738..180895948-chr1:181056431..181059504,3	K562	blood:
6	chr1:180888347..180891443-chr1:180893391..180896382,5	K562	blood:
7	chr1:180885638..180890175-chr1:180892218..180894358,4	MCF-7	breast:
8	chr1:180893588..180895646-chr1:181053051..181055501,3	MCF-7	breast:
9	chr1:180865980..180867777-chr1:180893565..180896342,2	K562	blood:

No data

Variant related genes	Relation type
KIAA1614	TF binding region
KIAA1614	CpG island
ENSG00000225857	Chromatin interaction
ENSG00000162783	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10914134	1.00[CEU][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3845411	1.00[CEU][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3845412	0.90[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv872579	chr1:180881148-180931508	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1001918	chr1:180886750-180908005	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180882400-180894600	Weak transcription	Pancreas	Pancrea
2	chr1:180882800-180894400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:180883000-180894600	Weak transcription	Right Ventricle	heart
4	chr1:180883000-180894800	Weak transcription	Colonic Mucosa	Colon
5	chr1:180883600-180894800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:180883600-180895000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:180885800-180895000	Weak transcription	NHLF	lung
8	chr1:180886000-180911000	Enhancers	Fetal Thymus	thymus
9	chr1:180887600-180915800	Weak transcription	Osteobl	bone
10	chr1:180888400-180894400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:180888400-180897600	Weak transcription	Aorta	Aorta
12	chr1:180888600-180917200	Weak transcription	Gastric	stomach
13	chr1:180889200-180894800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:180890400-180895600	Enhancers	Thymus	Thymus
15	chr1:180890400-180898200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:180890600-180898000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:180890800-180898200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:180890800-180898600	Enhancers	Placenta	Placenta
19	chr1:180891000-180897800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr1:180891400-180896600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:180891600-180901000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:180891800-180895200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:180891800-180898200	Enhancers	Fetal Muscle Trunk	muscle
24	chr1:180892200-180894600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:180892400-180895400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:180892600-180894600	Enhancers	Brain Hippocampus Middle	brain
27	chr1:180892600-180894600	Weak transcription	Fetal Intestine Large	intestine
28	chr1:180892600-180895000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:180892600-180895200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:180892600-180895400	Enhancers	Brain Anterior Caudate	brain
31	chr1:180892800-180894400	Weak transcription	Fetal Kidney	kidney
32	chr1:180892800-180894800	Weak transcription	GM12878-XiMat	blood
33	chr1:180892800-180895200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:180892800-180895200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:180892800-180895200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:180892800-180895200	Weak transcription	NHDF-Ad	bronchial
37	chr1:180893000-180894600	Weak transcription	Right Atrium	heart
38	chr1:180893000-180895200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr1:180893000-180895200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:180893000-180895200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:180893000-180895600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr1:180893000-180896600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr1:180893000-180897400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr1:180893000-180897400	Weak transcription	Lung	lung
45	chr1:180893000-180897800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:180893000-180898000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:180893200-180894600	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:180893200-180894600	Weak transcription	HSMMtube	muscle
49	chr1:180893200-180895400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr1:180893200-180896800	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links