Variant report

Variant	rs58797970
Chromosome Location	chr2:113396491-113396492
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113388586..113390776-chr2:113395916..113398828,2	MCF-7	breast:
2	chr2:113390812..113393784-chr2:113396279..113398032,2	MCF-7	breast:
3	chr2:113396469..113398021-chr2:113429600..113431477,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10171024	0.80[ASN][1000 genomes]
rs10779885	0.84[EUR][1000 genomes]
rs11123146	0.85[EUR][1000 genomes]
rs12467747	0.84[EUR][1000 genomes]
rs12475403	0.84[EUR][1000 genomes]
rs17515708	0.80[ASN][1000 genomes]
rs17515715	0.80[ASN][1000 genomes]
rs35048989	0.91[ASN][1000 genomes]
rs3827758	0.85[EUR][1000 genomes]
rs4261730	0.83[EUR][1000 genomes]
rs4849091	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4849097	0.85[EUR][1000 genomes]
rs57033895	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6542074	0.84[EUR][1000 genomes]
rs6725228	0.85[ASN][1000 genomes]
rs7371700	0.85[EUR][1000 genomes]
rs9308676	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv470480	chr2:113373950-113429752	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113385000-113402600	Weak transcription	Esophagus	oesophagus
2	chr2:113385800-113401800	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:113388800-113398200	Weak transcription	Lung	lung
4	chr2:113389400-113402000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:113389600-113402200	Weak transcription	Primary B cells from cord blood	blood
6	chr2:113389800-113398400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:113389800-113400400	Weak transcription	Fetal Intestine Small	intestine
8	chr2:113390000-113396800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:113390000-113397200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:113390000-113398000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:113390800-113397400	Weak transcription	K562	blood
12	chr2:113391400-113398000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:113392000-113397000	Weak transcription	HMEC	breast
14	chr2:113392200-113397600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:113392600-113397800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:113392800-113402000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:113393200-113396800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:113394000-113398000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:113394400-113397400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:113394400-113402000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:113394600-113396800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:113394600-113398400	Weak transcription	Spleen	Spleen
23	chr2:113394600-113398800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:113394600-113402000	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:113394800-113397600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:113394800-113397800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:113394800-113398000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:113394800-113398800	Weak transcription	Fetal Thymus	thymus
29	chr2:113394800-113402000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:113395000-113397200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr2:113395000-113398000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr2:113395000-113400200	Weak transcription	Primary T cells from cord blood	blood
33	chr2:113395000-113401400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:113395000-113402000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr2:113395200-113397000	Weak transcription	HepG2	liver
36	chr2:113395200-113397800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr2:113395200-113401800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:113395600-113396800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:113395600-113398000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr2:113395600-113400800	Weak transcription	Liver	Liver
41	chr2:113396000-113396800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr2:113396200-113396800	Weak transcription	Colonic Mucosa	Colon
43	chr2:113396200-113398000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:113396200-113398600	Weak transcription	Rectal Mucosa Donor 29	rectum

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