Variant report

Variant	rs7287648
Chromosome Location	chr22:31881703-31881704
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:31864703-31891033..22:31936958-31958600	GM12878	blood:
2	chr22:31878049..31882754-chr22:31883144..31886598,7	MCF-7	breast:
3	chr22:31880474..31882997-chr22:31883937..31886891,2	K562	blood:
4	22:31864703-31891033..22:31930706-31935473	GM12878	blood:
5	22:31864703-31891033..22:32347255-32351014	K562	blood:
6	chr22:31880006..31882997-chr22:31884265..31886891,3	K562	blood:

Variant related genes	Relation type
ENSG00000229169	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000198089	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10427704	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11913486	0.82[AFR][1000 genomes]
rs11913573	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11913621	1.00[ASN][1000 genomes]
rs12106594	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35351984	1.00[ASN][1000 genomes]
rs35923988	1.00[ASN][1000 genomes]
rs41282571	0.84[EUR][1000 genomes]
rs55735011	0.84[EUR][1000 genomes]
rs5997930	1.00[ASN][1000 genomes]
rs5998031	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286320	1.00[ASN][1000 genomes]
rs7291131	1.00[ASN][1000 genomes]
rs7292627	1.00[ASN][1000 genomes]
rs7293134	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv1060776	chr22:31869892-31900359	Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr22:31797000-31884400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31797000-31884400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:31815000-31883400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:31823600-31884600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr22:31847600-31881800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr22:31848800-31883000	Weak transcription	Fetal Heart	heart
7	chr22:31854800-31884600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:31856800-31885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:31858400-31884600	Weak transcription	Psoas Muscle	Psoas
10	chr22:31859400-31883800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr22:31859400-31884800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:31860000-31882600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr22:31860200-31884800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr22:31864400-31884400	Weak transcription	Brain Substantia Nigra	brain
15	chr22:31864400-31884600	Weak transcription	Aorta	Aorta
16	chr22:31864600-31884600	Weak transcription	Right Ventricle	heart
17	chr22:31867600-31884600	Weak transcription	Pancreas	Pancrea
18	chr22:31868800-31884200	Strong transcription	HSMM	muscle
19	chr22:31870000-31883400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr22:31870400-31883600	Strong transcription	Fetal Intestine Large	intestine
21	chr22:31870800-31883600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr22:31870800-31884000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:31870800-31884400	Strong transcription	Fetal Thymus	thymus
24	chr22:31871000-31884400	Strong transcription	Placenta	Placenta
25	chr22:31871200-31883800	Strong transcription	Fetal Intestine Small	intestine
26	chr22:31871600-31883000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr22:31872200-31884200	Weak transcription	Hela-S3	cervix
28	chr22:31872600-31884000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr22:31872600-31884200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr22:31872600-31884400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr22:31872800-31882000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr22:31872800-31884400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr22:31872800-31884400	Strong transcription	Fetal Muscle Leg	muscle
34	chr22:31873200-31883600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr22:31873200-31883800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr22:31873200-31884000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr22:31873400-31883800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr22:31873400-31884200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr22:31873600-31883400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr22:31873600-31884200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr22:31873600-31884200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr22:31873600-31884200	Strong transcription	Osteobl	bone
43	chr22:31874000-31883800	Strong transcription	Fetal Stomach	stomach
44	chr22:31874200-31883800	Strong transcription	Brain Germinal Matrix	brain
45	chr22:31874400-31884600	Weak transcription	Stomach Mucosa	stomach
46	chr22:31875000-31881800	Strong transcription	Fetal Brain Female	brain
47	chr22:31875200-31883800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr22:31875200-31884200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr22:31875200-31884400	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr22:31875200-31884400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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