Variant report

Variant	rs848545
Chromosome Location	chr2:36705011-36705012
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	POLR2A	chr2:36704444-36705261	A549	lung:	n/a	n/a
2	POLR2A	chr2:36704368-36705133	ProgFib	skin:	n/a	n/a
3	TCF12	chr2:36704502-36706151	SK-N-SH	brain:	n/a	chr2:36704780-36704787
4	EP300	chr2:36704860-36706090	SK-N-SH	brain:	n/a	n/a
5	MYC	chr2:36704505-36705350	NB4	blood:	n/a	n/a
6	POLR2A	chr2:36703577-36707125	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr2:36704519-36705431	HUVEC	blood vessel:	n/a	n/a
8	GATA3	chr2:36704878-36706568	A549	lung:	n/a	n/a
9	MAX	chr2:36705001-36705885	A549	lung:	n/a	n/a
10	POLR2A	chr2:36703930-36705277	HUVEC	blood vessel:	n/a	n/a
11	TCF12	chr2:36704904-36706217	A549	lung:	n/a	n/a
12	GATA3	chr2:36704830-36705987	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr2:36703523-36708264	HUVEC	blood vessel:	n/a	n/a
14	FOS	chr2:36704960-36705796	HUVEC	blood vessel:	n/a	n/a
15	GATA2	chr2:36704686-36705679	HUVEC	blood vessel:	n/a	n/a
16	SPI1	chr2:36704957-36705654	HL-60	blood:	n/a	chr2:36705220-36705233 chr2:36705221-36705234 chr2:36705222-36705231 chr2:36705586-36705595
17	MAX	chr2:36704553-36705328	NB4	blood:	n/a	n/a
18	SP1	chr2:36704999-36706184	A549	lung:	n/a	chr2:36705470-36705483
19	POLR2A	chr2:36703880-36707069	SK-N-SH	brain:	n/a	n/a
20	MAX	chr2:36704518-36706375	A549	lung:	n/a	chr2:36706158-36706173
21	POLR2A	chr2:36704979-36705750	IMR90	lung:	n/a	n/a
22	POLR2A	chr2:36704903-36705209	HUVEC	blood vessel:	n/a	n/a
23	GATA3	chr2:36704820-36706137	SK-N-SH	brain:	n/a	n/a
24	MAX	chr2:36704970-36705911	SK-N-SH	brain:	n/a	n/a
25	FOSL2	chr2:36704903-36706003	A549	lung:	n/a	n/a
26	POLR2A	chr2:36704678-36705280	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36703233..36705219-chr2:36822844..36824378,2	K562	blood:

Variant related genes	Relation type
CRIM1	TF binding region

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs711251	0.86[ASN][1000 genomes]
rs848534	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs848544	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs848546	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs848548	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs848549	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs848555	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs848558	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs861051	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv581468	chr2:36687111-36715689	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36687200-36712000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:36688600-36725600	Weak transcription	Small Intestine	intestine
3	chr2:36689200-36706400	Weak transcription	Thymus	Thymus
4	chr2:36698600-36705200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:36701000-36705400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:36702000-36709000	Strong transcription	Hela-S3	cervix
7	chr2:36702400-36712000	Genic enhancers	HUVEC	blood vessel
8	chr2:36702600-36705200	ZNF genes & repeats	Primary B cells from cord blood	blood
9	chr2:36703200-36707400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:36703200-36709400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:36703200-36710600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:36703200-36712600	Genic enhancers	Osteobl	bone
13	chr2:36703200-36717200	Weak transcription	Brain Substantia Nigra	brain
14	chr2:36703400-36706600	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr2:36703400-36710200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:36703400-36712000	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:36703400-36712800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:36703600-36705200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr2:36703600-36712400	Genic enhancers	NHDF-Ad	bronchial
20	chr2:36703800-36705600	Strong transcription	Fetal Lung	lung
21	chr2:36703800-36706000	Weak transcription	K562	blood
22	chr2:36703800-36706200	Weak transcription	Primary T cells from cord blood	blood
23	chr2:36703800-36708600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:36703800-36708800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:36703800-36709200	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:36703800-36711600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:36703800-36713400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr2:36704000-36705200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:36704000-36705200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:36704000-36705200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:36704000-36705200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:36704000-36705200	ZNF genes & repeats	Lung	lung
33	chr2:36704000-36705200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
34	chr2:36704000-36705400	Strong transcription	Right Ventricle	heart
35	chr2:36704000-36706200	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr2:36704000-36706200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:36704000-36706400	Genic enhancers	NH-A	brain
38	chr2:36704000-36706600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:36704000-36706800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:36704000-36706800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr2:36704000-36707000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:36704000-36707400	Genic enhancers	Placenta	Placenta
43	chr2:36704000-36707600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr2:36704000-36708000	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:36704000-36709000	Strong transcription	HepG2	liver
46	chr2:36704000-36710200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:36704000-36712000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:36704000-36712200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:36704000-36712600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:36704200-36705200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links