Variant report

Variant	rs56013048
Chromosome Location	chr2:10170060-10170061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10148500..10150133-chr2:10169876..10172659,2	K562	blood:
2	chr2:10134013..10138352-chr2:10168771..10170817,3	K562	blood:
3	chr2:10158527..10161012-chr2:10168048..10171028,3	K562	blood:
4	chr2:10090078..10091613-chr2:10169348..10171878,2	K562	blood:
5	chr2:10168694..10173635-chr2:10261158..10263596,5	K562	blood:
6	chr2:10168238..10170580-chr2:10257778..10260756,2	K562	blood:
7	chr2:10169446..10172222-chr2:10261892..10264280,4	K562	blood:
8	chr2:10169082..10172266-chr2:10172461..10174978,3	MCF-7	breast:
9	chr2:10169355..10171398-chr2:10585390..10587810,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000206633	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000134317	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12468621	1.00[ASN][1000 genomes]
rs2116017	1.00[ASN][1000 genomes]
rs35927125	1.00[ASN][1000 genomes]
rs4444493	1.00[ASN][1000 genomes]
rs4669510	1.00[ASN][1000 genomes]
rs4669512	1.00[ASN][1000 genomes]
rs55797250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56147664	1.00[ASN][1000 genomes]
rs57031421	1.00[ASN][1000 genomes]
rs6716517	1.00[ASN][1000 genomes]
rs6717307	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744630	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72542775	1.00[ASN][1000 genomes]
rs72542787	1.00[ASN][1000 genomes]
rs72784502	1.00[ASN][1000 genomes]
rs72786603	1.00[ASN][1000 genomes]
rs7591484	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1007965	chr2:10154960-10276125	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1014790	chr2:10156968-10274855	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv999019	chr2:10157762-10273232	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10160400-10175000	Weak transcription	Liver	Liver
2	chr2:10167600-10170600	Enhancers	Right Atrium	heart
3	chr2:10167600-10171200	Enhancers	Fetal Muscle Leg	muscle
4	chr2:10167800-10170800	Enhancers	Right Ventricle	heart
5	chr2:10168000-10170400	Enhancers	Stomach Smooth Muscle	stomach
6	chr2:10168000-10170600	Enhancers	Spleen	Spleen
7	chr2:10168200-10170800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr2:10168200-10170800	Enhancers	Placenta	Placenta
9	chr2:10168200-10171400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr2:10168400-10170600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:10168400-10170600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:10168400-10170600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr2:10168400-10170800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:10168400-10170800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr2:10168400-10171000	Enhancers	Lung	lung
16	chr2:10168600-10170400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:10168600-10170400	Enhancers	Fetal Intestine Large	intestine
18	chr2:10168600-10170600	Enhancers	Left Ventricle	heart
19	chr2:10168600-10171000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr2:10168600-10171600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr2:10168600-10173000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:10168800-10170200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr2:10168800-10170200	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr2:10168800-10170400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr2:10168800-10170400	Enhancers	Fetal Lung	lung
26	chr2:10168800-10170600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:10168800-10170600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:10168800-10170600	Enhancers	Fetal Thymus	thymus
29	chr2:10168800-10170800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:10168800-10170800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr2:10168800-10170800	Enhancers	Esophagus	oesophagus
32	chr2:10168800-10170800	Enhancers	Fetal Stomach	stomach
33	chr2:10168800-10170800	Enhancers	NHEK	skin
34	chr2:10168800-10171000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:10168800-10171000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr2:10168800-10171800	Flanking Active TSS	K562	blood
37	chr2:10169000-10170200	Enhancers	Duodenum Mucosa	Duodenum
38	chr2:10169000-10170200	Enhancers	GM12878-XiMat	blood
39	chr2:10169000-10170400	Enhancers	Stomach Mucosa	stomach
40	chr2:10169000-10170400	Enhancers	HUVEC	blood vessel
41	chr2:10169000-10171000	Enhancers	Fetal Brain Male	brain
42	chr2:10169200-10170400	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr2:10169200-10170400	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr2:10169200-10170600	Enhancers	Fetal Brain Female	brain
45	chr2:10169200-10171000	Enhancers	Fetal Heart	heart
46	chr2:10169400-10170200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:10169400-10170200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:10169400-10170400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr2:10169400-10170600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:10169400-10170800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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