Variant report

Variant	rs11685378
Chromosome Location	chr2:174129671-174129672
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	chr2:174128890..174130849-chr2:174135155..174138053,2	MCF-7	breast:
2	chr2:174127550..174130433-chr2:174828223..174830328,3	K562	blood:

Variant related genes	Relation type
ENSG00000238133	Chromatin interaction
ENSG00000172845	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11692098	0.88[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11695778	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12618933	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12620774	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13023958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13031154	0.97[ASN][1000 genomes]
rs3769148	0.86[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66691946	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs752077	0.86[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174083400-174136400	Weak transcription	Esophagus	oesophagus
2	chr2:174096600-174130800	Weak transcription	Gastric	stomach
3	chr2:174098000-174130600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:174099600-174134400	Weak transcription	Placenta	Placenta
5	chr2:174101600-174136400	Weak transcription	Hela-S3	cervix
6	chr2:174101800-174136200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:174105000-174133400	Weak transcription	NHLF	lung
8	chr2:174105000-174134400	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:174113000-174130800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:174118000-174130800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:174118000-174132400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:174121600-174132800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:174121600-174133600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:174122600-174133200	Strong transcription	Adipose Nuclei	Adipose
15	chr2:174122600-174136400	Weak transcription	Stomach Mucosa	stomach
16	chr2:174123400-174133000	Strong transcription	Liver	Liver
17	chr2:174123400-174133200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:174123400-174133400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:174123800-174133000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr2:174123800-174136800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:174125200-174133000	Weak transcription	NH-A	brain
22	chr2:174125800-174133000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:174126000-174138000	Weak transcription	Psoas Muscle	Psoas
24	chr2:174126400-174129800	Weak transcription	Fetal Lung	lung
25	chr2:174126400-174133200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:174126400-174138800	Weak transcription	Right Ventricle	heart
27	chr2:174126600-174129800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr2:174126600-174130800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:174126800-174130800	Weak transcription	Ovary	ovary
30	chr2:174127600-174131200	Strong transcription	NHEK	skin
31	chr2:174127600-174133800	Weak transcription	HepG2	liver
32	chr2:174127800-174130200	Strong transcription	Left Ventricle	heart
33	chr2:174127800-174132000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:174128000-174132000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:174128200-174132200	Weak transcription	Spleen	Spleen
36	chr2:174128200-174136200	Weak transcription	HSMMtube	muscle
37	chr2:174128400-174130400	Genic enhancers	Fetal Intestine Large	intestine
38	chr2:174128400-174131400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:174128400-174131400	Strong transcription	Fetal Stomach	stomach
40	chr2:174128400-174131400	Strong transcription	Lung	lung
41	chr2:174128400-174131600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:174128400-174131600	Strong transcription	Osteobl	bone
43	chr2:174128400-174132000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:174128600-174129800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:174128600-174130000	Enhancers	Fetal Intestine Small	intestine
46	chr2:174128600-174130400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr2:174128600-174130400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr2:174128600-174131400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:174128600-174131800	Strong transcription	Fetal Muscle Leg	muscle
50	chr2:174128600-174132800	Strong transcription	HMEC	breast

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