Variant report

Variant	rs62022305
Chromosome Location	chr15:42721440-42721441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42716682..42718425-chr15:42719887..42721928,2	K562	blood:
2	chr15:42720726..42723222-chr15:42725910..42728014,2	K562	blood:

Variant related genes	Relation type
ENSG00000103994	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1062016	0.95[ASN][1000 genomes]
rs1142536	0.95[ASN][1000 genomes]
rs11544099	0.96[EUR][1000 genomes]
rs11632226	0.96[EUR][1000 genomes]
rs11638754	0.96[EUR][1000 genomes]
rs11639355	0.96[EUR][1000 genomes]
rs12102204	0.91[ASN][1000 genomes]
rs12438745	0.96[EUR][1000 genomes]
rs12438846	0.92[EUR][1000 genomes]
rs12442040	0.93[EUR][1000 genomes]
rs12442046	0.93[EUR][1000 genomes]
rs17708630	0.96[EUR][1000 genomes]
rs17765354	0.96[EUR][1000 genomes]
rs2244773	0.80[ASN][1000 genomes]
rs2412716	0.80[ASN][1000 genomes]
rs2595935	0.80[ASN][1000 genomes]
rs2595938	0.80[ASN][1000 genomes]
rs28364462	0.91[ASN][1000 genomes]
rs28364472	0.91[ASN][1000 genomes]
rs28364473	0.83[ASN][1000 genomes]
rs28364495	0.91[ASN][1000 genomes]
rs28364498	0.91[ASN][1000 genomes]
rs28364504	0.91[ASN][1000 genomes]
rs28364519	0.93[ASN][1000 genomes]
rs28364522	0.93[ASN][1000 genomes]
rs28364523	0.89[ASN][1000 genomes]
rs28364524	0.93[ASN][1000 genomes]
rs28364526	0.93[ASN][1000 genomes]
rs28364557	0.95[ASN][1000 genomes]
rs28364559	0.95[ASN][1000 genomes]
rs28602748	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28621687	1.00[ASN][1000 genomes]
rs28726153	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742999	0.96[EUR][1000 genomes]
rs3803342	0.91[ASN][1000 genomes]
rs4267280	0.96[EUR][1000 genomes]
rs62022300	0.96[EUR][1000 genomes]
rs62022301	0.90[EUR][1000 genomes]
rs62022302	0.95[EUR][1000 genomes]
rs62022303	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62022306	0.96[EUR][1000 genomes]
rs62022307	0.90[EUR][1000 genomes]
rs6493046	0.91[ASN][1000 genomes]
rs7168121	0.91[ASN][1000 genomes]
rs7178396	0.95[ASN][1000 genomes]
rs72707471	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72707477	0.96[EUR][1000 genomes]
rs8031541	0.95[ASN][1000 genomes]
rs8042603	0.91[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	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv832986	chr15:42587825-42753664	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	esv3334708	chr15:42664344-42827738	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	esv18217	chr15:42721271-42723558	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42694600-42750600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr15:42698600-42738400	Strong transcription	Fetal Muscle Leg	muscle
3	chr15:42699200-42741600	Strong transcription	Fetal Muscle Trunk	muscle
4	chr15:42700000-42732400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr15:42700800-42732000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:42700800-42747200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:42701000-42738800	Strong transcription	Duodenum Smooth Muscle	Duodenum
8	chr15:42701200-42766600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr15:42701400-42732600	Strong transcription	Adipose Nuclei	Adipose
10	chr15:42701600-42744200	Strong transcription	Stomach Smooth Muscle	stomach
11	chr15:42701800-42732400	Strong transcription	Fetal Intestine Large	intestine
12	chr15:42702200-42750200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr15:42702400-42732600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr15:42702400-42744200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr15:42702400-42744200	Strong transcription	Liver	Liver
16	chr15:42702600-42724000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:42702600-42732400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:42702600-42738800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:42702600-42744400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:42702800-42732000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:42702800-42744400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr15:42703000-42726000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr15:42703000-42732200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr15:42703000-42732400	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr15:42703200-42732600	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr15:42704000-42744400	Strong transcription	Fetal Lung	lung
27	chr15:42704000-42746800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:42704200-42731000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr15:42704600-42744200	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr15:42705800-42749200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr15:42706400-42721800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr15:42706400-42732400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr15:42706400-42732400	Strong transcription	Placenta	Placenta
34	chr15:42706400-42732600	Strong transcription	Primary B cells from peripheral blood	blood
35	chr15:42706400-42734600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr15:42706400-42744200	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr15:42706600-42730000	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr15:42706600-42732200	Strong transcription	Lung	lung
39	chr15:42707000-42730600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr15:42707000-42739400	Strong transcription	Left Ventricle	heart
41	chr15:42707800-42732400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr15:42708200-42732000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr15:42709800-42747000	Weak transcription	Stomach Mucosa	stomach
44	chr15:42710200-42740200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr15:42711200-42723400	Strong transcription	Ovary	ovary
46	chr15:42711200-42732000	Strong transcription	Right Ventricle	heart
47	chr15:42711600-42723000	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr15:42711600-42723000	Strong transcription	HUVEC	blood vessel
49	chr15:42711600-42730800	Strong transcription	Fetal Brain Female	brain
50	chr15:42711800-42722200	Strong transcription	GM12878-XiMat	blood

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