Variant report

Variant	rs333995
Chromosome Location	chr2:179141469-179141470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179140423..179143363-chr2:179145106..179148015,2	K562	blood:
2	chr2:179137626..179140251-chr2:179141207..179143730,3	K562	blood:
3	chr2:179058195..179061021-chr2:179140887..179143423,2	K562	blood:
4	chr2:179125831..179128251-chr2:179141469..179144423,2	K562	blood:
5	chr2:179140566..179142281-chr2:179143545..179145094,2	K562	blood:
6	chr2:179138712..179140611-chr2:179141207..179143775,3	K562	blood:

Variant related genes	Relation type
ENSG00000079156	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs101266	0.93[JPT][hapmap]
rs12476671	0.86[JPT][hapmap]
rs1434080	0.82[JPT][hapmap]
rs147180	0.93[JPT][hapmap]
rs333992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333994	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333996	0.81[JPT][hapmap]
rs333997	0.88[JPT][hapmap]
rs334002	0.88[CEU][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs334005	0.81[JPT][hapmap]
rs334007	0.81[JPT][hapmap]
rs334009	0.85[JPT][hapmap]
rs334013	0.87[JPT][hapmap]
rs334014	0.93[JPT][hapmap]
rs334017	0.81[JPT][hapmap]
rs334604	0.86[CEU][hapmap]
rs334616	0.89[CEU][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs334623	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs334630	0.82[JPT][hapmap]
rs334631	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs551368	0.93[JPT][hapmap]
rs7587549	0.82[JPT][hapmap]
rs7599683	0.88[CEU][hapmap];0.87[JPT][hapmap];0.83[EUR][1000 genomes]
rs9989738	0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1011423	chr2:179084407-179166160	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179132800-179142400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:179133800-179142400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:179133800-179146800	Weak transcription	Esophagus	oesophagus
4	chr2:179135400-179142400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:179135800-179142600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:179136000-179142400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:179136800-179146800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:179137000-179142000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:179137000-179142000	Weak transcription	HSMM	muscle
10	chr2:179137200-179142400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:179137200-179142600	Weak transcription	HSMMtube	muscle
12	chr2:179137400-179141600	Weak transcription	Liver	Liver
13	chr2:179137400-179142400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:179137400-179142600	Weak transcription	Adipose Nuclei	Adipose
15	chr2:179137400-179142600	Weak transcription	Brain Anterior Caudate	brain
16	chr2:179137600-179141600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:179137600-179141600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:179137600-179142400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:179137600-179142400	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:179137800-179142400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:179137800-179142400	Weak transcription	Left Ventricle	heart
22	chr2:179137800-179142400	Weak transcription	Right Atrium	heart
23	chr2:179138600-179142400	Weak transcription	NH-A	brain
24	chr2:179138800-179142400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:179138800-179142400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:179138800-179142400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:179138800-179142400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:179139000-179141600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:179139000-179142200	Weak transcription	HMEC	breast
30	chr2:179139000-179142400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:179139000-179142400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:179139000-179142400	Weak transcription	NHEK	skin
33	chr2:179139000-179142600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:179139000-179143600	Weak transcription	Hela-S3	cervix
35	chr2:179139200-179142200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:179139400-179141600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:179139400-179142400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr2:179139400-179142400	Weak transcription	Fetal Intestine Large	intestine
39	chr2:179139400-179142400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:179139600-179142400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:179140200-179142600	Weak transcription	Psoas Muscle	Psoas
42	chr2:179140600-179142400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr2:179140800-179142200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:179140800-179142400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:179140800-179142400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:179141000-179141600	Weak transcription	K562	blood
47	chr2:179141000-179146800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:179141200-179146800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:179141400-179141600	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links