Variant report

Variant	rs4491705
Chromosome Location	chr2:11598990-11598991
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr2:11598959-11599257	K562	blood:	n/a	chr2:11599086-11599098

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:11598968-11599018	BE2_C	brain:	n/a
2	chr2:11598968-11599018	GM12892	blood:	n/a
3	chr2:11598968-11599018	HEEpiC	esophagus:	n/a
4	chr2:11598968-11599018	HNPCEpiC	eye:	n/a
5	chr2:11598968-11599018	SKMC	muscle:	n/a
6	chr2:11598968-11599018	PANC-1	pancreas:	n/a
7	chr2:11598968-11599018	ovcar-3	ovarian:	n/a
8	chr2:11598968-11599018	HCM	heart:	n/a
9	chr2:11598968-11599018	HRE	kidney:	n/a
10	chr2:11598968-11599018	SK-N-MC	brain:	n/a
11	chr2:11598968-11599018	CMK	blood:	n/a
12	chr2:11598968-11599018	NH-A	brain:	n/a
13	chr2:11598968-11599018	PFSK-1	brain:	n/a
14	chr2:11598968-11599018	HUVEC	blood vessel:	n/a
15	chr2:11598968-11599018	MCF10A-Er-Src	breast:	n/a
16	chr2:11598968-11599018	NHDF-neo	bronchial:	n/a
17	chr2:11598968-11599018	ProgFib	skin:	n/a
18	chr2:11598968-11599018	HEK293	kidney:	embryo
19	chr2:11598968-11599018	RPTEC	kidney:	n/a
20	chr2:11598968-11599018	U87	brain:	n/a
21	chr2:11598968-11599018	HAEpiC	amniotic membrane:	n/a
22	chr2:11598968-11599018	A549	lung:	n/a
23	chr2:11598968-11599018	GM06990	blood:	n/a
24	chr2:11598968-11599018	LNCaP	prostate:	n/a
25	chr2:11598968-11599018	MCF-7	breast:	n/a
26	chr2:11598968-11599018	HIPEpiC	eye:	n/a
27	chr2:11598968-11599018	HRPEpiC	eye:	n/a
28	chr2:11598968-11599018	K562	blood:	n/a
29	chr2:11598968-11599018	GM12878	blood:	n/a
30	chr2:11598968-11599018	ECC-1	luminal epithelium:	n/a
31	chr2:11598968-11599018	Jurkat	blood:	n/a
32	chr2:11598968-11599018	HCT-116	colon:	n/a
33	chr2:11598968-11599018	H1-hESC	embryonic stem cell:	embryo
34	chr2:11598968-11599018	GM19239	blood:	n/a
35	chr2:11598968-11599018	IMR90	lung:	fetal
36	chr2:11598968-11599018	HCPEpiC	choroid plexus:	n/a
37	chr2:11598968-11599018	HPAEpiC	pulmonary alveolar:	n/a
38	chr2:11598968-11599018	HCF	heart:	n/a
39	chr2:11598968-11599018	SK-N-SH_RA	brain:	n/a
40	chr2:11598968-11599018	HepG2	liver:	n/a
41	chr2:11598968-11599018	PrEC	prostate:	n/a
42	chr2:11598968-11599018	SK-N-SH	brain:	n/a
43	chr2:11598968-11599018	AG04449	skin:	fetal
44	chr2:11598968-11599018	BJ	skin:	n/a
45	chr2:11598968-11599018	AG10803	skin:	n/a
46	chr2:11598968-11599018	AG04450	lung:	fetal
47	chr2:11598968-11599018	AG09309	skin:	n/a
48	chr2:11598968-11599018	T-47D	breast:	n/a
49	chr2:11598968-11599018	NB4	blood:	n/a
50	chr2:11598968-11599018	SAEC	small airway:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11587956..11589833-chr2:11597471..11599189,2	K562	blood:
2	chr2:11590776..11592328-chr2:11597305..11600154,2	MCF-7	breast:
3	chr2:11584170..11586792-chr2:11598194..11600581,2	MCF-7	breast:
4	chr2:11593105..11594896-chr2:11598132..11599840,2	K562	blood:
5	chr2:11598034..11601167-chr2:11604377..11607233,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269074	TF binding region
ENSG00000269074	CpG island
ENSG00000169016	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10186511	0.82[ASN][1000 genomes]
rs10192676	0.93[ASN][1000 genomes]
rs10803737	0.88[ASN][1000 genomes]
rs10929741	0.99[ASN][1000 genomes]
rs10929742	0.83[ASN][1000 genomes]
rs10929745	0.92[ASN][1000 genomes]
rs10929746	0.92[ASN][1000 genomes]
rs10929747	0.92[ASN][1000 genomes]
rs10929748	0.92[ASN][1000 genomes]
rs10929749	0.92[ASN][1000 genomes]
rs11680919	0.82[ASN][1000 genomes]
rs11685543	0.80[ASN][1000 genomes]
rs11686138	0.83[ASN][1000 genomes]
rs11687178	0.83[ASN][1000 genomes]
rs11694857	0.83[ASN][1000 genomes]
rs12472962	0.83[ASN][1000 genomes]
rs12611958	0.83[ASN][1000 genomes]
rs12615317	0.83[ASN][1000 genomes]
rs12988106	0.80[ASN][1000 genomes]
rs13395890	0.81[ASN][1000 genomes]
rs1369500	0.92[ASN][1000 genomes]
rs1369501	0.92[ASN][1000 genomes]
rs1369502	0.92[ASN][1000 genomes]
rs1369503	0.92[ASN][1000 genomes]
rs34075853	0.92[ASN][1000 genomes]
rs35047869	0.92[ASN][1000 genomes]
rs35160324	0.92[ASN][1000 genomes]
rs35306821	0.82[ASN][1000 genomes]
rs35606161	0.92[ASN][1000 genomes]
rs35727311	0.83[ASN][1000 genomes]
rs35734540	0.92[ASN][1000 genomes]
rs35818376	0.80[ASN][1000 genomes]
rs35973068	0.92[ASN][1000 genomes]
rs4292073	0.83[ASN][1000 genomes]
rs4553788	0.83[ASN][1000 genomes]
rs60323348	0.92[ASN][1000 genomes]
rs60819231	0.92[ASN][1000 genomes]
rs61016299	0.83[ASN][1000 genomes]
rs6432193	0.83[ASN][1000 genomes]
rs6432195	1.00[ASN][1000 genomes]
rs6432196	0.82[ASN][1000 genomes]
rs6432197	0.92[ASN][1000 genomes]
rs6432198	0.92[ASN][1000 genomes]
rs6705284	0.92[ASN][1000 genomes]
rs6714698	0.92[ASN][1000 genomes]
rs6719876	0.92[ASN][1000 genomes]
rs6724082	0.92[ASN][1000 genomes]
rs6724463	0.92[ASN][1000 genomes]
rs6729114	0.83[ASN][1000 genomes]
rs6751915	0.83[ASN][1000 genomes]
rs6753836	0.92[ASN][1000 genomes]
rs7425786	0.82[ASN][1000 genomes]
rs7556984	0.82[ASN][1000 genomes]
rs7565965	0.92[ASN][1000 genomes]
rs7577942	0.92[ASN][1000 genomes]
rs7584175	0.83[ASN][1000 genomes]
rs9789694	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11577600-11603800	Weak transcription	Colonic Mucosa	Colon
2	chr2:11579000-11604800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:11580200-11604000	Weak transcription	Fetal Brain Male	brain
4	chr2:11584400-11599600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:11587200-11605400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:11587400-11605200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:11587600-11602200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:11587600-11603800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:11587600-11605400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:11589000-11604800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:11589200-11605400	Weak transcription	Thymus	Thymus
12	chr2:11589400-11605400	Weak transcription	Fetal Kidney	kidney
13	chr2:11589600-11603200	Weak transcription	Spleen	Spleen
14	chr2:11589600-11605400	Weak transcription	Esophagus	oesophagus
15	chr2:11589800-11603800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:11590000-11604000	Weak transcription	Brain Germinal Matrix	brain
17	chr2:11590200-11603800	Weak transcription	Small Intestine	intestine
18	chr2:11590200-11604800	Weak transcription	Primary B cells from cord blood	blood
19	chr2:11590200-11605400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:11591400-11599400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:11591600-11603800	Weak transcription	Aorta	Aorta
22	chr2:11592000-11603800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:11592000-11603800	Weak transcription	Fetal Intestine Small	intestine
24	chr2:11592200-11599200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:11592400-11601200	Weak transcription	Lung	lung
26	chr2:11592400-11603000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:11592600-11603800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:11593400-11605400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:11593600-11602600	Weak transcription	Fetal Brain Female	brain
30	chr2:11593600-11603400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:11593800-11602600	Weak transcription	Fetal Lung	lung
32	chr2:11593800-11605000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:11593800-11605200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr2:11594000-11603400	Weak transcription	Placenta	Placenta
35	chr2:11594000-11605000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr2:11594000-11605200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:11594200-11603200	Weak transcription	Osteobl	bone
38	chr2:11594200-11605000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr2:11594200-11605000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:11594600-11604800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:11595200-11604200	Weak transcription	NHDF-Ad	bronchial
42	chr2:11595200-11605000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:11595400-11603400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:11595600-11602600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:11595600-11603200	Weak transcription	Fetal Intestine Large	intestine
46	chr2:11595600-11605200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:11596200-11602000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:11596200-11602600	Weak transcription	HUVEC	blood vessel
49	chr2:11596600-11602400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:11596600-11603800	Weak transcription	Fetal Stomach	stomach

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