Variant report

Variant	rs57145635
Chromosome Location	chr2:86678124-86678125
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86676152..86678942-chr2:86849820..86852421,2	MCF-7	breast:
2	chr2:86677483..86680429-chr2:86702820..86704627,2	K562	blood:

Variant related genes	Relation type
ENSG00000239305	Chromatin interaction
ENSG00000249884	Chromatin interaction

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

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

rs_ID	r²[population]
rs11682587	0.89[ASN][1000 genomes]
rs17027263	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56661459	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56988639	0.84[EUR][1000 genomes]
rs57503894	0.84[EUR][1000 genomes]
rs57933210	0.84[EUR][1000 genomes]
rs58522053	0.96[EUR][1000 genomes]
rs59676747	0.80[EUR][1000 genomes]
rs59744815	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60177707	0.84[EUR][1000 genomes]
rs60386015	0.84[EUR][1000 genomes]
rs61158882	0.97[ASN][1000 genomes]
rs61627769	0.80[EUR][1000 genomes]
rs6547678	0.92[EUR][1000 genomes]
rs6750561	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7567955	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7606682	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7607280	0.88[EUR][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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86669800-86678600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:86669800-86679200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:86670000-86678200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:86670000-86684200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:86670400-86693400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:86670800-86678600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:86670800-86681000	Weak transcription	Stomach Mucosa	stomach
8	chr2:86670800-86684200	Weak transcription	Colonic Mucosa	Colon
9	chr2:86671000-86725600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:86671200-86689400	Strong transcription	Primary B cells from cord blood	blood
11	chr2:86671400-86678200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:86671400-86684200	Weak transcription	Gastric	stomach
13	chr2:86671400-86685600	Weak transcription	Esophagus	oesophagus
14	chr2:86671400-86687800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:86671400-86722600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:86671400-86725600	Strong transcription	A549	lung
17	chr2:86671600-86680800	Weak transcription	Fetal Brain Male	brain
18	chr2:86671600-86695400	Strong transcription	HSMM	muscle
19	chr2:86671600-86719800	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:86671600-86723600	Strong transcription	Fetal Thymus	thymus
21	chr2:86671600-86726000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:86671800-86680400	Weak transcription	Right Atrium	heart
23	chr2:86671800-86726600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr2:86672000-86681400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:86672600-86721200	Strong transcription	Fetal Intestine Large	intestine
26	chr2:86672600-86724200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:86672800-86678800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:86672800-86680400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:86672800-86680600	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr2:86673000-86678600	Weak transcription	Spleen	Spleen
31	chr2:86673400-86678600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:86674000-86685200	Weak transcription	Pancreas	Pancrea
33	chr2:86674200-86678600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:86674200-86678600	Weak transcription	Aorta	Aorta
35	chr2:86674200-86726800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:86674600-86721400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr2:86674800-86680200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr2:86674800-86695000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr2:86675000-86680400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:86675000-86682600	Strong transcription	K562	blood
41	chr2:86675200-86680600	Strong transcription	Brain Cingulate Gyrus	brain
42	chr2:86675400-86678800	Weak transcription	Psoas Muscle	Psoas
43	chr2:86675400-86694600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:86675600-86678400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:86675600-86692000	Strong transcription	Dnd41	blood
46	chr2:86675800-86680000	Strong transcription	HUVEC	blood vessel
47	chr2:86676000-86678400	Weak transcription	Brain Substantia Nigra	brain
48	chr2:86676000-86680800	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:86676200-86682600	Strong transcription	Primary T cells from cord blood	blood
50	chr2:86676400-86679200	Strong transcription	NHEK	skin

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