Variant report

Variant	rs16830451
Chromosome Location	chr2:152784315-152784316
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152683611..152686227-chr2:152784110..152785845,2	MCF-7	breast:
2	chr2:152783024..152785714-chr2:152800210..152802365,2	MCF-7	breast:
3	chr2:152783633..152785944-chr2:152799398..152801724,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162980	Chromatin interaction

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

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

rs_ID	r²[population]
rs10930837	0.82[AFR][1000 genomes]
rs11900913	0.85[AMR][1000 genomes]
rs16830470	0.86[AMR][1000 genomes]
rs16830490	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4510225	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73001835	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7579719	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7583910	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7607349	0.96[AFR][1000 genomes];1.00[AMR][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	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152780200-152784400	Weak transcription	Psoas Muscle	Psoas
2	chr2:152780200-152787000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:152780400-152784400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:152780400-152784800	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:152780400-152785400	Weak transcription	HepG2	liver
6	chr2:152780600-152784400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:152781800-152785000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:152782800-152785000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr2:152783800-152784400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:152783800-152784600	Weak transcription	Primary B cells from cord blood	blood
11	chr2:152783800-152785200	Enhancers	Brain Angular Gyrus	brain
12	chr2:152783800-152785400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:152783800-152785400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr2:152783800-152785600	Enhancers	Placenta	Placenta
15	chr2:152783800-152785600	Enhancers	NHEK	skin
16	chr2:152783800-152786200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:152784000-152784400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr2:152784000-152784400	Enhancers	Brain Cingulate Gyrus	brain
19	chr2:152784000-152785000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:152784000-152785800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:152784000-152785800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:152784200-152784600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:152784200-152785800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:152784200-152785800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:152784200-152789800	Weak transcription	Brain Anterior Caudate	brain

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