Variant report

Variant	rs12072013
Chromosome Location	chr1:76231776-76231777
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:76225609..76234140-chr1:76249320..76256385,15	K562	blood:
2	chr1:76225579..76234839-chr1:76250485..76256385,12	K562	blood:
3	chr1:76189616..76192216-chr1:76229910..76232221,2	K562	blood:
4	chr1:76230100..76233038-chr1:76235257..76238207,3	K562	blood:
5	chr1:76189779..76193435-chr1:76229737..76232893,5	K562	blood:
6	chr1:76230023..76233011-chr1:76235018..76236757,2	K562	blood:

Variant related genes	Relation type
ENSG00000178193	Chromatin interaction
ENSG00000117054	Chromatin interaction
ENSG00000201487	Chromatin interaction
ENSG00000207241	Chromatin interaction
ENSG00000137955	Chromatin interaction
ENSG00000206620	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1146595	0.81[AMR][1000 genomes]
rs1146596	0.81[AMR][1000 genomes]
rs1146597	0.81[AMR][1000 genomes]
rs1146599	0.81[AMR][1000 genomes]
rs1146600	0.81[AMR][1000 genomes]
rs12070736	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12073631	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12075453	0.91[YRI][hapmap]
rs1466817	0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	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
4	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
5	esv2763563	chr1:76229839-76245374	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76210200-76231800	Weak transcription	HSMMtube	muscle
2	chr1:76221200-76238400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:76221400-76233200	Weak transcription	Brain Anterior Caudate	brain
4	chr1:76221600-76231800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:76221600-76232200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:76221600-76234200	Weak transcription	Thymus	Thymus
7	chr1:76221800-76232600	Weak transcription	Fetal Brain Male	brain
8	chr1:76222000-76233400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:76222000-76233800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:76222000-76236600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:76222000-76237000	Weak transcription	Brain Angular Gyrus	brain
12	chr1:76223800-76236600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:76224400-76232800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:76225200-76231800	Weak transcription	Spleen	Spleen
15	chr1:76227400-76249800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:76227800-76233200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:76227800-76239600	Weak transcription	GM12878-XiMat	blood
18	chr1:76228200-76233600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:76228800-76233600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:76230000-76231800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:76230000-76232200	Weak transcription	Left Ventricle	heart
22	chr1:76230000-76234600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:76230200-76231800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:76230200-76232000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:76230200-76232000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:76230200-76232000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:76230200-76232000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:76230200-76232600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:76230400-76232000	Weak transcription	Adipose Nuclei	Adipose
30	chr1:76230400-76232000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr1:76230400-76232200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:76230400-76232200	Weak transcription	Liver	Liver
33	chr1:76230400-76232600	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:76230400-76234200	Weak transcription	Primary B cells from cord blood	blood
35	chr1:76230600-76231800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:76230800-76232200	Enhancers	HMEC	breast
37	chr1:76230800-76232200	Enhancers	NHDF-Ad	bronchial
38	chr1:76230800-76232200	Enhancers	NHLF	lung
39	chr1:76231000-76232800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:76231200-76232000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:76231400-76232200	Enhancers	A549	lung
42	chr1:76231400-76232200	Enhancers	NHEK	skin
43	chr1:76231400-76232400	Enhancers	HSMM	muscle
44	chr1:76231400-76232600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:76231400-76232800	Enhancers	Osteobl	bone
46	chr1:76231600-76232000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:76231600-76232000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:76231600-76232000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr1:76231600-76232000	Enhancers	Hela-S3	cervix
50	chr1:76231600-76232000	Flanking Active TSS	HUVEC	blood vessel

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