Variant report

Variant	rs12071642
Chromosome Location	chr1:172010558-172010559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172010411..172012805-chr1:172411810..172414746,2	MCF-7	breast:
2	chr1:172010410..172011489-chr1:172368146..172369453,8	MCF-7	breast:
3	chr1:172010329..172011675-chr1:172398087..172399170,9	MCF-7	breast:
4	chr1:172009534..172012040-chr1:172017929..172019999,2	MCF-7	breast:
5	chr1:172008308..172011065-chr1:172384057..172386802,2	MCF-7	breast:
6	chr1:171971691..171972193-chr1:172010147..172011060,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180999	Chromatin interaction
ENSG00000135845	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10911008	0.92[AFR][1000 genomes]
rs10911026	0.92[AFR][1000 genomes]
rs12058378	0.92[AFR][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	nsv532342	chr1:171922237-172133785	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	nsv3532	chr1:171997451-172042351	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171994000-172020400	Weak transcription	Left Ventricle	heart
2	chr1:172000000-172012800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:172000600-172013600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:172000800-172011400	Weak transcription	Right Ventricle	heart
5	chr1:172000800-172013800	Weak transcription	Fetal Brain Female	brain
6	chr1:172001400-172019000	Weak transcription	Fetal Brain Male	brain
7	chr1:172002200-172011600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:172002800-172013200	Weak transcription	Primary T cells from cord blood	blood
9	chr1:172003000-172012400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:172004000-172014000	Weak transcription	Lung	lung
11	chr1:172005600-172015200	Weak transcription	HSMMtube	muscle
12	chr1:172006000-172013800	Weak transcription	Brain Germinal Matrix	brain
13	chr1:172006400-172025600	Weak transcription	Adipose Nuclei	Adipose
14	chr1:172006800-172010800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:172007000-172010600	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr1:172007600-172014000	Weak transcription	Brain Substantia Nigra	brain
17	chr1:172007600-172014800	Weak transcription	Thymus	Thymus
18	chr1:172008200-172011000	Weak transcription	Ovary	ovary
19	chr1:172008400-172013200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:172008800-172010800	Enhancers	Hela-S3	cervix
21	chr1:172009000-172010600	Enhancers	HMEC	breast
22	chr1:172009000-172010600	Enhancers	HUVEC	blood vessel
23	chr1:172009000-172010600	Enhancers	NH-A	brain
24	chr1:172009000-172010800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:172009000-172010800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:172009000-172013800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:172009200-172010600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:172009200-172010800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:172009200-172011600	Weak transcription	Fetal Kidney	kidney
30	chr1:172009200-172022800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:172009800-172010600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:172009800-172010600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:172009800-172010800	Strong transcription	Brain Angular Gyrus	brain
34	chr1:172009800-172010800	Strong transcription	Brain Anterior Caudate	brain
35	chr1:172010000-172022200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:172010200-172010600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:172010200-172010800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:172010200-172011000	Weak transcription	Osteobl	bone
39	chr1:172010400-172010600	Enhancers	Aorta	Aorta
40	chr1:172010400-172010600	Enhancers	A549	lung
41	chr1:172010400-172010800	Enhancers	NHEK	skin
42	chr1:172010400-172011000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:172010400-172013800	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:172010400-172014000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:172010400-172022000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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