Variant report

Variant	rs58542786
Chromosome Location	chr2:9793838-9793839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9778018..9780568-chr2:9793790..9796630,2	K562	blood:
2	chr2:9790369..9792598-chr2:9793390..9795838,2	MCF-7	breast:
3	chr2:9636239..9638571-chr2:9793118..9795513,2	K562	blood:
4	chr2:9792147..9794483-chr2:9799893..9802301,3	K562	blood:
5	chr2:9769294..9772872-chr2:9790798..9795039,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240687	Chromatin interaction
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57786001	1.00[AMR][1000 genomes]
rs73164248	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1011802	chr2:9766171-9808284	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9789400-9796600	Weak transcription	Gastric	stomach
2	chr2:9789400-9797600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:9789600-9794400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:9789600-9795800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:9789600-9796400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:9789800-9794400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:9790800-9794600	Weak transcription	Placenta	Placenta
8	chr2:9790800-9797400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:9790800-9799200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:9790800-9801000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:9791000-9794400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr2:9791000-9794400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:9791000-9794800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:9792400-9795200	Enhancers	Brain Angular Gyrus	brain
15	chr2:9792400-9795600	Enhancers	Brain Anterior Caudate	brain
16	chr2:9792600-9794000	Enhancers	Brain Hippocampus Middle	brain
17	chr2:9792600-9794800	Enhancers	Ovary	ovary
18	chr2:9792600-9795000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:9792600-9795200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:9792800-9794000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:9792800-9794200	Enhancers	HepG2	liver
22	chr2:9792800-9795400	Enhancers	GM12878-XiMat	blood
23	chr2:9792800-9801600	Weak transcription	Spleen	Spleen
24	chr2:9793000-9794400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:9793000-9794800	Enhancers	A549	lung
26	chr2:9793200-9794000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:9793400-9794600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:9793600-9794000	Weak transcription	Brain Substantia Nigra	brain
29	chr2:9793600-9794400	Enhancers	Fetal Kidney	kidney
30	chr2:9793600-9794600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:9793800-9794000	Enhancers	Brain Cingulate Gyrus	brain
32	chr2:9793800-9794200	Weak transcription	Brain Germinal Matrix	brain
33	chr2:9793800-9794200	Weak transcription	Fetal Heart	heart

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