Variant report

Variant	rs12064646
Chromosome Location	chr1:150950908-150950909
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150950114..150952556-chr1:150975284..150977893,2	K562	blood:
2	chr1:150550324..150553500-chr1:150948263..150951593,4	MCF-7	breast:
3	chr1:150949558..150951518-chr1:150957213..150958786,2	K562	blood:
4	chr1:150950305..150952431-chr1:150971107..150975123,3	K562	blood:
5	chr1:150897410..150900366-chr1:150947492..150952156,4	K562	blood:
6	chr1:150950614..150952256-chr1:151042194..151044224,2	MCF-7	breast:
7	chr1:150949543..150951625-chr11:11620473..11621993,2	MCF-7	breast:
8	chr1:150950044..150951710-chr4:104823461..104824979,2	MCF-7	breast:
9	chr1:150950100..150952046-chr1:150977560..150979538,2	MCF-7	breast:
10	chr1:150948646..150951124-chr1:150967629..150969757,2	K562	blood:
11	chr1:150949968..150951775-chr4:104823480..104824982,3	MCF-7	breast:
12	chr1:150950075..150953840-chr1:150979246..150981801,5	K562	blood:
13	chr1:150948448..150951342-chr1:151016605..151018874,2	K562	blood:
14	chr1:150550518..150552449-chr1:150950095..150951828,2	MCF-7	breast:
15	chr1:150950114..150953759-chr1:150976393..150978885,3	K562	blood:
16	chr1:150950574..150954547-chr1:151027400..151032185,6	MCF-7	breast:
17	chr1:150835862..150838203-chr1:150950221..150953041,2	K562	blood:
18	chr1:150520324..150522575-chr1:150949260..150951135,2	K562	blood:
19	chr1:150892976..150894840-chr1:150949265..150951717,2	K562	blood:
20	chr1:150950155..150952613-chr1:151029273..151031994,2	MCF-7	breast:
21	chr1:150898449..150900113-chr1:150949703..150951359,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225996	Chromatin interaction
ENSG00000163141	Chromatin interaction
ENSG00000213190	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000143379	Chromatin interaction
ENSG00000197622	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11204783	1.00[EUR][1000 genomes]
rs12067174	1.00[EUR][1000 genomes]
rs12075317	0.97[AFR][1000 genomes]
rs12078857	1.00[EUR][1000 genomes]
rs12088079	1.00[EUR][1000 genomes]
rs16841775	1.00[EUR][1000 genomes]
rs6587556	1.00[EUR][1000 genomes]

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	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv522317	chr1:150933723-150974162	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150948000-150951600	Enhancers	Primary T cells fromperipheralblood	blood
2	chr1:150948000-150951600	Weak transcription	Colonic Mucosa	Colon
3	chr1:150948000-150951600	Enhancers	Fetal Intestine Large	intestine
4	chr1:150948000-150951600	Weak transcription	Fetal Kidney	kidney
5	chr1:150948000-150951600	Weak transcription	Ovary	ovary
6	chr1:150948000-150951800	Weak transcription	Psoas Muscle	Psoas
7	chr1:150948000-150952600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:150948000-150952600	Enhancers	Fetal Intestine Small	intestine
9	chr1:150948200-150951400	Weak transcription	Fetal Lung	lung
10	chr1:150948200-150951600	Enhancers	Primary T cells from cord blood	blood
11	chr1:150948200-150951800	Weak transcription	Brain Germinal Matrix	brain
12	chr1:150948200-150952000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:150948600-150951800	Weak transcription	Fetal Brain Female	brain
14	chr1:150948600-150952800	Enhancers	Placenta	Placenta
15	chr1:150948800-150952000	Enhancers	Lung	lung
16	chr1:150949000-150951600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:150949200-150951600	Enhancers	Brain Cingulate Gyrus	brain
18	chr1:150949200-150951800	Enhancers	Fetal Stomach	stomach
19	chr1:150949200-150952600	Enhancers	NH-A	brain
20	chr1:150949600-150951600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:150950000-150951600	Enhancers	Primary B cells from peripheral blood	blood
22	chr1:150950000-150951600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr1:150950000-150951600	Enhancers	Brain Anterior Caudate	brain
24	chr1:150950000-150951600	Enhancers	Brain Substantia Nigra	brain
25	chr1:150950200-150951000	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:150950200-150951000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr1:150950200-150951400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:150950200-150951400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:150950200-150951400	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:150950200-150951400	Enhancers	HepG2	liver
31	chr1:150950200-150951600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:150950200-150951600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:150950200-150951600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:150950200-150951600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:150950200-150951600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:150950200-150951600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:150950200-150951600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:150950200-150951600	Enhancers	Primary hematopoietic stem cells	blood
39	chr1:150950200-150951600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr1:150950200-150951600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr1:150950200-150951600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:150950200-150951600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:150950200-150951600	Enhancers	Adipose Nuclei	Adipose
44	chr1:150950200-150951600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:150950200-150951600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:150950200-150951600	Weak transcription	Esophagus	oesophagus
47	chr1:150950200-150951600	Weak transcription	Gastric	stomach
48	chr1:150950200-150951600	Weak transcription	Left Ventricle	heart
49	chr1:150950200-150951600	Weak transcription	Pancreas	Pancrea
50	chr1:150950200-150951600	Weak transcription	Rectal Mucosa Donor 29	rectum

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