Variant report

Variant	rs12065445
Chromosome Location	chr1:184703556-184703557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184702362..184703932-chr1:184704085..184706758,2	K562	blood:
2	chr1:184702525..184704823-chr1:184721375..184723068,2	MCF-7	breast:
3	chr1:184697668..184700399-chr1:184702400..184704230,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10911625	1.00[AMR][1000 genomes]
rs10911632	1.00[AFR][1000 genomes]
rs10911638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10911646	1.00[AFR][1000 genomes]
rs12057178	1.00[AMR][1000 genomes]
rs12060591	1.00[AFR][1000 genomes]
rs12065460	1.00[AFR][1000 genomes]
rs12083577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12084988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12089563	1.00[AMR][1000 genomes]
rs12091260	1.00[AMR][1000 genomes]
rs12091830	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1010371	chr1:184663898-184709570	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1009529	chr1:184663898-184731215	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1001244	chr1:184667198-184715195	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1849889	chr1:184667371-184718601	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv872584	chr1:184678290-184716457	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184653200-184705000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:184654000-184710800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:184654200-184710000	Weak transcription	Esophagus	oesophagus
4	chr1:184658400-184706800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:184659200-184707000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:184660000-184704200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:184661000-184705600	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr1:184661200-184707800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:184662200-184706600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:184665200-184706800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:184666200-184704600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:184668400-184707000	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr1:184669200-184707000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:184669400-184707000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:184671200-184707400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:184674600-184723000	Weak transcription	Aorta	Aorta
17	chr1:184677600-184723200	Weak transcription	Lung	lung
18	chr1:184678800-184710800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:184681400-184704800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:184685000-184721800	Weak transcription	Fetal Heart	heart
21	chr1:184685400-184722800	Weak transcription	Ovary	ovary
22	chr1:184685600-184703600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:184685600-184706000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:184685600-184711200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:184685600-184714400	Weak transcription	Brain Substantia Nigra	brain
26	chr1:184685600-184721000	Weak transcription	Right Ventricle	heart
27	chr1:184685600-184722600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:184685800-184707000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:184685800-184715000	Weak transcription	Small Intestine	intestine
30	chr1:184686200-184722600	Weak transcription	Brain Germinal Matrix	brain
31	chr1:184686400-184715600	Weak transcription	Colonic Mucosa	Colon
32	chr1:184688800-184714200	Weak transcription	Fetal Brain Male	brain
33	chr1:184689200-184709600	Weak transcription	NHLF	lung
34	chr1:184690400-184721800	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:184691600-184706800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr1:184692000-184707200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr1:184692200-184707000	Strong transcription	Fetal Thymus	thymus
38	chr1:184692800-184707000	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr1:184694000-184706800	Strong transcription	Adipose Nuclei	Adipose
40	chr1:184694000-184707000	Strong transcription	Placenta	Placenta
41	chr1:184694400-184703600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:184695200-184715400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:184695400-184714800	Weak transcription	HepG2	liver
44	chr1:184696000-184705800	Weak transcription	Hela-S3	cervix
45	chr1:184696600-184706800	Strong transcription	Liver	Liver
46	chr1:184696800-184706800	Strong transcription	Osteobl	bone
47	chr1:184697400-184704400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:184697400-184706800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:184697400-184707000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:184697800-184706800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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