Variant report

Variant	rs17850223
Chromosome Location	chr2:63283178-63283179
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:63276101..63278381-chr2:63282344..63286213,4	K562	blood:
2	chr2:63276972..63280213-chr2:63282703..63285832,5	MCF-7	breast:
3	chr2:63281114..63283585-chr2:63290042..63292853,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115507	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12474184	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12996320	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13000344	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2018650	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2162011	0.96[ASN][1000 genomes]
rs2302567	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv3340700	chr2:63127412-63534998	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1004678	chr2:63230722-63562484	Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv874233	chr2:63269604-63290449	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63278600-63287600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
2	chr2:63279600-63283200	Bivalent/Poised TSS	Fetal Brain Female	brain
3	chr2:63279800-63284800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:63279800-63286000	Weak transcription	Hela-S3	cervix
5	chr2:63280000-63286800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:63280000-63287000	Bivalent Enhancer	Fetal Heart	heart
7	chr2:63280200-63283600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
8	chr2:63280400-63283400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
9	chr2:63280400-63284600	Strong transcription	Dnd41	blood
10	chr2:63280400-63285000	Strong transcription	HepG2	liver
11	chr2:63280800-63283400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
12	chr2:63280800-63284000	Bivalent Enhancer	Stomach Mucosa	stomach
13	chr2:63280800-63284200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
14	chr2:63281000-63283600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
15	chr2:63281000-63283800	Bivalent Enhancer	Lung	lung
16	chr2:63281000-63284000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:63281000-63285600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:63281000-63287000	Enhancers	Pancreas	Pancrea
19	chr2:63281400-63287400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:63281600-63287000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr2:63281800-63283200	Bivalent Enhancer	Fetal Intestine Small	intestine
22	chr2:63281800-63283800	Strong transcription	A549	lung
23	chr2:63281800-63284000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr2:63281800-63284000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
25	chr2:63281800-63284000	Bivalent Enhancer	Fetal Intestine Large	intestine
26	chr2:63281800-63285200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
27	chr2:63281800-63285400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
28	chr2:63281800-63285600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
29	chr2:63281800-63286600	Bivalent Enhancer	Liver	Liver
30	chr2:63281800-63287000	Bivalent Enhancer	Fetal Thymus	thymus
31	chr2:63282000-63283800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
32	chr2:63282000-63284000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
33	chr2:63282200-63283200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:63282200-63283200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:63282200-63283400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:63282200-63283400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:63282200-63283600	Weak transcription	K562	blood
38	chr2:63282200-63283800	ZNF genes & repeats	HMEC	breast
39	chr2:63282200-63287000	Bivalent Enhancer	Fetal Brain Male	brain
40	chr2:63282200-63287200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr2:63282400-63283200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
42	chr2:63282400-63283200	Flanking Active TSS	Right Ventricle	heart
43	chr2:63282400-63283400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:63282400-63283400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:63282400-63283600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr2:63282400-63283800	Bivalent Enhancer	Thymus	Thymus
47	chr2:63282400-63284000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr2:63282400-63284000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr2:63282400-63284200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:63282400-63287400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell

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