Variant report

Variant	rs7567467
Chromosome Location	chr2:113521592-113521593
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113508884..113510742-chr2:113519395..113521615,3	K562	blood:
2	chr2:113402414..113404382-chr2:113520815..113523652,2	MCF-7	breast:
3	chr2:113519458..113523816-chr2:113539890..113544534,4	K562	blood:
4	chr12:25403381..25404341-chr2:113521480..113522326,2	Hela-S3	cervix:
5	chr2:113512278..113514695-chr2:113520095..113522998,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144136	Chromatin interaction
ENSG00000169607	Chromatin interaction
ENSG00000237753	Chromatin interaction
ENSG00000115008	Chromatin interaction
ENSG00000133703	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10210810	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11687733	0.93[EUR][1000 genomes]
rs17597976	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2048874	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3900691	1.00[ASN][1000 genomes]
rs7368977	0.87[EUR][1000 genomes]
rs7599171	0.84[EUR][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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113515400-113521600	Weak transcription	Spleen	Spleen
2	chr2:113515600-113521600	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:113516200-113521600	Weak transcription	Liver	Liver
4	chr2:113516600-113521600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:113519200-113521600	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr2:113519600-113521600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:113519800-113523000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:113520200-113521600	Flanking Active TSS	HMEC	breast
9	chr2:113520200-113522800	Active TSS	GM12878-XiMat	blood
10	chr2:113520400-113521800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:113520600-113521600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:113520600-113522200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr2:113520800-113521600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr2:113520800-113521600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:113520800-113521600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:113520800-113521600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr2:113520800-113521600	Flanking Active TSS	Hela-S3	cervix
18	chr2:113520800-113521600	Flanking Active TSS	K562	blood
19	chr2:113520800-113521600	Flanking Active TSS	Osteobl	bone
20	chr2:113520800-113521800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr2:113520800-113522000	Flanking Active TSS	HUVEC	blood vessel
22	chr2:113520800-113522800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:113520800-113523000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:113520800-113523000	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr2:113520800-113523200	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr2:113520800-113523200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:113520800-113523200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:113521000-113521600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr2:113521000-113521600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:113521000-113521600	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr2:113521000-113521600	Flanking Active TSS	Fetal Heart	heart
32	chr2:113521000-113521600	Flanking Active TSS	NHEK	skin
33	chr2:113521000-113522000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:113521000-113522000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:113521000-113522000	Flanking Active TSS	Fetal Thymus	thymus
36	chr2:113521000-113522800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr2:113521000-113522800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:113521000-113522800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:113521000-113522800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:113521000-113522800	Active TSS	A549	lung
41	chr2:113521200-113521600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
42	chr2:113521200-113521600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr2:113521200-113521600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr2:113521200-113521600	Enhancers	Primary B cells from cord blood	blood
45	chr2:113521200-113521600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr2:113521200-113521600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr2:113521200-113521600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:113521200-113521600	Active TSS	Fetal Muscle Trunk	muscle
49	chr2:113521200-113521600	Flanking Bivalent TSS/Enh	HepG2	liver
50	chr2:113521200-113521600	Flanking Active TSS	NH-A	brain

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