Variant report

Variant	rs73065172
Chromosome Location	chr2:210292828-210292829
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:210291185..210292983-chr2:210295300..210297710,2	MCF-7	breast:
2	chr2:210288753..210291116-chr2:210291474..210294355,2	K562	blood:

Variant related genes	Relation type
ENSG00000078018	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11884784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11886253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11889422	0.85[AFR][1000 genomes]
rs11891941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6738954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73056332	1.00[AMR][1000 genomes]
rs73065154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73065162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73065196	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv834519	chr2:210271017-210400153	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1005298	chr2:210277791-210318067	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210288200-210294400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:210289800-210293000	Active TSS	Brain Germinal Matrix	brain
3	chr2:210290000-210300200	Weak transcription	Pancreas	Pancrea
4	chr2:210290200-210296400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:210290200-210296400	Weak transcription	Osteobl	bone
6	chr2:210290200-210300200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:210290600-210296200	Weak transcription	NH-A	brain
8	chr2:210290800-210293200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:210290800-210295800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:210290800-210296200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:210291400-210293600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:210291400-210296400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:210291400-210296800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:210291600-210295800	Weak transcription	HMEC	breast
15	chr2:210291600-210296200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:210291600-210296400	Weak transcription	Aorta	Aorta
17	chr2:210291600-210296600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:210291800-210293200	Enhancers	Fetal Brain Male	brain
19	chr2:210291800-210293200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr2:210291800-210295400	Weak transcription	NHEK	skin
21	chr2:210291800-210296200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:210292000-210295600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:210292000-210295800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:210292600-210293400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:210292600-210293400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:210292600-210293600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:210292800-210293000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr2:210292800-210293000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:210292800-210293000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:210292800-210293000	Enhancers	Brain Hippocampus Middle	brain
31	chr2:210292800-210293200	Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr2:210292800-210293400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:210292800-210293600	Active TSS	Fetal Brain Female	brain
34	chr2:210292800-210295600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:210292800-210295800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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