Variant report

Variant	rs12058610
Chromosome Location	chr1:76263392-76263393
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:76262752..76264685-chr6:26156867..26159856,2	K562	blood:
2	chr1:76213109..76217378-chr1:76260068..76263795,4	K562	blood:
3	chr1:76262942..76264627-chr1:76319779..76321493,2	K562	blood:
4	chr1:76208992..76212319-chr1:76261590..76264096,3	K562	blood:
5	chr1:76257416..76260329-chr1:76260481..76263578,4	MCF-7	breast:
6	chr1:76186306..76195796-chr1:76248732..76266552,73	K562	blood:
7	chr1:76188764..76194417-chr1:76259356..76264333,14	K562	blood:

Variant related genes	Relation type
ENSG00000158373	Chromatin interaction
ENSG00000181227	Chromatin interaction
ENSG00000137955	Chromatin interaction
ENSG00000117054	Chromatin interaction
ENSG00000178193	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12069278	1.00[AMR][1000 genomes]
rs12077750	1.00[AMR][1000 genomes]
rs12079152	1.00[AMR][1000 genomes]
rs9919244	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' 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	35 gene(s)	inside rSNPs	diseases
2	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76254400-76265200	Strong transcription	Fetal Muscle Trunk	muscle
2	chr1:76255200-76263600	Strong transcription	Fetal Lung	lung
3	chr1:76255400-76265200	Weak transcription	Right Atrium	heart
4	chr1:76255600-76264000	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr1:76255800-76264000	Strong transcription	Brain Anterior Caudate	brain
6	chr1:76255800-76264200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:76255800-76264200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:76255800-76264400	Strong transcription	Fetal Muscle Leg	muscle
9	chr1:76256000-76264200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:76256000-76264200	Strong transcription	Fetal Thymus	thymus
11	chr1:76256000-76264400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:76256000-76264400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:76256000-76264600	Strong transcription	Fetal Stomach	stomach
14	chr1:76256400-76264400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:76256600-76263400	Strong transcription	Adipose Nuclei	Adipose
16	chr1:76256600-76263400	Strong transcription	Stomach Smooth Muscle	stomach
17	chr1:76256600-76264000	Strong transcription	Primary hematopoietic stem cells	blood
18	chr1:76256600-76264000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:76256600-76264200	Strong transcription	Brain Cingulate Gyrus	brain
20	chr1:76256600-76264600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr1:76256600-76265000	Strong transcription	Primary T cells from cord blood	blood
22	chr1:76256800-76264000	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr1:76256800-76264200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:76256800-76264200	Strong transcription	Fetal Intestine Large	intestine
25	chr1:76256800-76264200	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:76256800-76264400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:76256800-76264600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:76256800-76264800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:76256800-76264800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:76256800-76264800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr1:76257000-76264200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:76257200-76264800	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr1:76257200-76266000	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:76257400-76263400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:76257400-76264200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:76257400-76264800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:76257600-76263600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:76257600-76264200	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr1:76257600-76264600	Strong transcription	Left Ventricle	heart
40	chr1:76257600-76264800	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:76257800-76263400	Strong transcription	Brain Hippocampus Middle	brain
42	chr1:76258000-76264200	Strong transcription	NH-A	brain
43	chr1:76258200-76264000	Strong transcription	HUVEC	blood vessel
44	chr1:76258400-76264000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:76260000-76264000	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:76260000-76264600	Strong transcription	Spleen	Spleen
47	chr1:76260000-76265800	Weak transcription	Stomach Mucosa	stomach
48	chr1:76260200-76263400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr1:76260200-76264200	Strong transcription	Thymus	Thymus
50	chr1:76260400-76263800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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