Variant report

Variant	rs1434084
Chromosome Location	chr2:179192592-179192593
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179186226..179189549-chr2:179191387..179194072,3	K562	blood:
2	chr2:179183577..179186418-chr2:179191406..179193848,2	MCF-7	breast:
3	chr2:179192053..179195565-chr2:179199855..179202518,3	K562	blood:

Variant related genes	Relation type
ENSG00000079156	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10181771	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10497513	0.89[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10497514	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10930829	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11897816	0.90[YRI][hapmap]
rs12151447	0.85[JPT][hapmap]
rs12467053	0.87[CHD][hapmap];0.90[JPT][hapmap]
rs12471790	0.84[CHD][hapmap];0.90[JPT][hapmap]
rs12474802	0.95[JPT][hapmap]
rs12474844	0.87[CHD][hapmap];0.95[JPT][hapmap]
rs12474919	0.89[JPT][hapmap]
rs12478760	0.87[CHD][hapmap];0.90[JPT][hapmap]
rs12479027	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12479281	0.90[JPT][hapmap]
rs12618595	0.94[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12618660	0.90[JPT][hapmap]
rs1368905	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1368907	0.80[GIH][hapmap]
rs1434082	0.90[JPT][hapmap]
rs1434083	0.84[CHD][hapmap];0.90[JPT][hapmap]
rs1434089	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16866271	0.95[JPT][hapmap]
rs16866273	0.95[JPT][hapmap]
rs16866275	0.95[JPT][hapmap]
rs16866281	0.95[JPT][hapmap]
rs1812550	0.89[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1836203	0.82[ASN][1000 genomes]
rs1982104	0.90[JPT][hapmap]
rs334604	0.81[YRI][hapmap]
rs3813252	0.95[JPT][hapmap]
rs3813253	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4422196	0.82[ASN][1000 genomes]
rs4894011	0.81[ASN][1000 genomes]
rs4894014	0.82[ASN][1000 genomes]
rs55989867	0.83[ASN][1000 genomes]
rs56366027	0.82[ASN][1000 genomes]
rs6433722	0.89[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6753246	0.89[GIH][hapmap]
rs6754517	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6761421	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7559699	0.82[ASN][1000 genomes]
rs7559711	0.82[ASN][1000 genomes]
rs7572355	0.81[ASN][1000 genomes]
rs7592114	0.89[YRI][hapmap]
rs964165	1.00[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179164600-179200800	Weak transcription	Aorta	Aorta
2	chr2:179176200-179198000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:179183800-179192600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:179183800-179247800	Weak transcription	Psoas Muscle	Psoas
5	chr2:179185400-179198200	Weak transcription	Fetal Lung	lung
6	chr2:179186000-179195000	Weak transcription	Liver	Liver
7	chr2:179188800-179195000	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:179189000-179193400	Weak transcription	K562	blood
9	chr2:179189200-179196800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:179189200-179201200	Weak transcription	Ovary	ovary
11	chr2:179189400-179201200	Weak transcription	Fetal Brain Male	brain
12	chr2:179189800-179217000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:179190600-179195800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:179191800-179194000	Enhancers	HSMM	muscle
15	chr2:179192000-179193200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:179192000-179193600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:179192200-179192600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:179192200-179193200	Enhancers	HepG2	liver
19	chr2:179192200-179193200	Flanking Active TSS	HSMMtube	muscle
20	chr2:179192200-179193400	Enhancers	Fetal Intestine Small	intestine
21	chr2:179192400-179192600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr2:179192400-179192600	Enhancers	Fetal Muscle Leg	muscle
23	chr2:179192400-179192600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr2:179192400-179192800	Flanking Active TSS	Osteobl	bone
25	chr2:179192400-179193000	Enhancers	NH-A	brain
26	chr2:179192400-179193400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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