Variant report

Variant	rs13382217
Chromosome Location	chr2:113518868-113518869
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113511556..113515494-chr2:113516132..113520858,6	K562	blood:
2	chr2:113516206..113519477-chr2:113521506..113524315,3	MCF-7	breast:
3	chr2:113507496..113509018-chr2:113517619..113519307,2	MCF-7	breast:
4	chr2:113516316..113519166-chr2:113519525..113523877,3	K562	blood:
5	chr2:113497949..113500528-chr2:113517759..113519834,2	MCF-7	breast:
6	chr2:113515605..113519166-chr2:113520003..113523974,6	K562	blood:

Variant related genes	Relation type
ENSG00000169607	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10165537	0.89[ASN][1000 genomes]
rs10193063	0.90[ASN][1000 genomes]
rs10200192	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10203064	0.87[ASN][1000 genomes]
rs11123149	0.89[ASN][1000 genomes]
rs12463996	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12622683	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13013602	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13015273	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13016817	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13019249	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13026263	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13036237	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13429613	0.85[ASN][1000 genomes]
rs17649681	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2862226	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3811040	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3827761	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4261731	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4848298	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4849118	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55762606	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58694576	0.82[EUR][1000 genomes]
rs6706663	0.89[ASN][1000 genomes]
rs6712572	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6721044	0.89[ASN][1000 genomes]
rs6721292	0.91[ASN][1000 genomes]
rs6753803	0.89[ASN][1000 genomes]
rs7577241	0.89[ASN][1000 genomes]
rs7591704	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7594852	0.93[EUR][1000 genomes]
rs7599690	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7607470	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][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	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
2	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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113491000-113520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:113494200-113519600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:113494400-113521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:113494800-113520000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:113495800-113521400	Weak transcription	Small Intestine	intestine
6	chr2:113496000-113521200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:113496000-113521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:113496800-113520800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:113500200-113521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:113506400-113520200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:113507200-113520200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:113507400-113519200	Strong transcription	K562	blood
13	chr2:113507400-113520200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:113507800-113520000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:113508000-113520000	Weak transcription	Brain Germinal Matrix	brain
16	chr2:113508000-113521200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:113508200-113519600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:113508200-113519800	Strong transcription	Fetal Thymus	thymus
19	chr2:113508200-113521000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:113508200-113521200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:113508400-113520600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:113508800-113519200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:113509800-113521200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:113510200-113519400	Strong transcription	Fetal Muscle Leg	muscle
25	chr2:113510200-113521200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:113510600-113520800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:113511400-113519800	Strong transcription	A549	lung
28	chr2:113511800-113519200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:113512600-113520800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr2:113512600-113521400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:113512800-113520600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:113512800-113521200	Weak transcription	Primary B cells from cord blood	blood
33	chr2:113512800-113521200	Weak transcription	Placenta	Placenta
34	chr2:113513000-113519400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:113513800-113519600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:113514000-113521000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:113514200-113519800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:113514200-113521000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:113514400-113519600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:113514400-113519600	Weak transcription	NHDF-Ad	bronchial
41	chr2:113514400-113520400	Weak transcription	Fetal Brain Female	brain
42	chr2:113514400-113520600	Weak transcription	Fetal Lung	lung
43	chr2:113514400-113521200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:113514600-113521200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:113514600-113521200	Weak transcription	Fetal Kidney	kidney
46	chr2:113514800-113519800	Weak transcription	Hela-S3	cervix
47	chr2:113514800-113520600	Weak transcription	NH-A	brain
48	chr2:113514800-113520800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr2:113514800-113521200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:113515000-113520600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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