Variant report

Variant	rs848549
Chromosome Location	chr2:36702389-36702390
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	ZNF274	chr2:36701942-36702572	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr2:36702362-36702981	HUVEC	blood vessel:	n/a	n/a
3	SETDB1	chr2:36701938-36702641	U2OS	brain:	n/a	n/a
4	ZNF274	chr2:36701824-36702411	NT2-D1	testis:	n/a	n/a
5	POLR2A	chr2:36701172-36702417	HUVEC	blood vessel:	n/a	n/a
6	ZNF274	chr2:36701942-36704031	K562	blood:	n/a	n/a
7	POLR2A	chr2:36702325-36702421	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36701832..36704492-chr2:36708241..36710615,2	MCF-7	breast:

Variant related genes	Relation type
CRIM1	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs3770858	0.85[CEU][hapmap]
rs3770865	0.85[CEU][hapmap]
rs3770866	0.85[CEU][hapmap]
rs3770872	0.82[CEU][hapmap]
rs4670560	0.90[CEU][hapmap]
rs6720730	0.88[CEU][hapmap]
rs711251	0.84[ASN][1000 genomes]
rs756203	0.82[CEU][hapmap]
rs848534	0.95[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs848544	1.00[CEU][hapmap];0.87[CHB][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs848545	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs848546	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs848548	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs848555	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs848558	0.95[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs861051	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs940294	0.81[CEU][hapmap]
rs940295	0.82[CEU][hapmap]

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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36679800-36704000	Weak transcription	Fetal Brain Female	brain
2	chr2:36683800-36704000	Weak transcription	Pancreas	Pancrea
3	chr2:36687200-36704000	Weak transcription	Gastric	stomach
4	chr2:36687200-36712000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:36688400-36704200	Weak transcription	Spleen	Spleen
6	chr2:36688400-36704400	Weak transcription	Colonic Mucosa	Colon
7	chr2:36688600-36704000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:36688600-36725600	Weak transcription	Small Intestine	intestine
9	chr2:36689000-36704000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:36689200-36704000	Weak transcription	Brain Angular Gyrus	brain
11	chr2:36689200-36706400	Weak transcription	Thymus	Thymus
12	chr2:36691000-36704600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:36691600-36704000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:36693000-36704400	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:36693000-36704400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:36694400-36704000	Weak transcription	Right Ventricle	heart
17	chr2:36694800-36704200	Weak transcription	Fetal Brain Male	brain
18	chr2:36695800-36704400	Weak transcription	Esophagus	oesophagus
19	chr2:36696000-36702800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:36696400-36704000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:36696400-36704000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:36696400-36704000	Weak transcription	Ovary	ovary
23	chr2:36696400-36704200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:36696600-36704000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:36696800-36704200	Weak transcription	Fetal Kidney	kidney
26	chr2:36697000-36703800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:36697000-36704200	Weak transcription	Fetal Heart	heart
28	chr2:36697200-36703200	Strong transcription	Osteobl	bone
29	chr2:36697200-36704000	Weak transcription	Fetal Stomach	stomach
30	chr2:36697200-36704000	Weak transcription	Lung	lung
31	chr2:36697600-36703800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:36697600-36704000	Weak transcription	Aorta	Aorta
33	chr2:36697800-36702600	Strong transcription	HSMMtube	muscle
34	chr2:36697800-36704000	Weak transcription	Psoas Muscle	Psoas
35	chr2:36698200-36702600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr2:36698400-36703600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:36698600-36705200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:36699000-36703200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr2:36699000-36704400	ZNF genes & repeats	A549	lung
40	chr2:36699000-36704800	ZNF genes & repeats	NHEK	skin
41	chr2:36699200-36704000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:36699400-36704000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:36699400-36704400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:36699600-36705000	ZNF genes & repeats	HMEC	breast
45	chr2:36699800-36702800	Weak transcription	Fetal Lung	lung
46	chr2:36699800-36704200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:36700400-36703200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
48	chr2:36700400-36703400	ZNF genes & repeats	NHDF-Ad	bronchial
49	chr2:36700400-36704000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr2:36700400-36704400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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