Variant report

Variant	rs17374170
Chromosome Location	chr12:12364411-12364412
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12363448..12365440-chr12:12418661..12421807,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1012672	0.88[CEU][hapmap]
rs11054760	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11054761	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11054766	0.92[AMR][1000 genomes]
rs12230532	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12819810	0.89[CEU][hapmap];1.00[AFR][1000 genomes]
rs12819916	0.89[CEU][hapmap];1.00[AFR][1000 genomes]
rs12826332	1.00[AFR][1000 genomes]
rs2300230	0.89[CEU][hapmap];1.00[AFR][1000 genomes]
rs34372334	1.00[AFR][1000 genomes]
rs34694539	1.00[AFR][1000 genomes]
rs35025692	1.00[AFR][1000 genomes]
rs3741792	1.00[AFR][1000 genomes]
rs61248668	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71457129	1.00[AFR][1000 genomes]
rs71457132	1.00[AFR][1000 genomes]
rs71457133	1.00[AFR][1000 genomes]
rs71457134	1.00[AFR][1000 genomes]
rs71457135	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv529005	chr12:12254756-12412795	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1050715	chr12:12293072-12383820	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12315400-12371600	Weak transcription	Lung	lung
2	chr12:12334400-12367600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr12:12335200-12365800	Weak transcription	NHEK	skin
4	chr12:12336200-12369800	Weak transcription	Left Ventricle	heart
5	chr12:12336200-12381000	Weak transcription	Pancreas	Pancrea
6	chr12:12344000-12367800	Weak transcription	NHLF	lung
7	chr12:12344200-12367200	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:12344200-12367400	Weak transcription	Brain Substantia Nigra	brain
9	chr12:12344200-12367800	Weak transcription	NH-A	brain
10	chr12:12344200-12377000	Weak transcription	NHDF-Ad	bronchial
11	chr12:12347600-12367800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:12348800-12367000	Weak transcription	HUVEC	blood vessel
13	chr12:12349000-12367600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:12352200-12367200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:12352600-12367600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:12353200-12367400	Weak transcription	Fetal Kidney	kidney
17	chr12:12353400-12367000	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:12354600-12367800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:12354800-12370400	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:12355000-12367800	Weak transcription	Gastric	stomach
21	chr12:12355400-12367400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:12355400-12367600	Weak transcription	Osteobl	bone
23	chr12:12355400-12369400	Weak transcription	Adipose Nuclei	Adipose
24	chr12:12355600-12365800	Weak transcription	Fetal Intestine Small	intestine
25	chr12:12355600-12367600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:12355600-12367600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:12355600-12367800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:12355600-12367800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:12355600-12367800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:12355600-12369800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:12355800-12367000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:12355800-12367400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:12355800-12367600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:12355800-12367800	Weak transcription	Primary T cells from cord blood	blood
35	chr12:12355800-12374200	Weak transcription	Fetal Intestine Large	intestine
36	chr12:12356000-12367600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:12356000-12368800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:12356000-12369000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:12356000-12370000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:12356200-12366800	Weak transcription	Fetal Lung	lung
41	chr12:12356200-12367400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:12356400-12367600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:12356400-12367600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:12356600-12366400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:12360200-12367800	Weak transcription	Brain Anterior Caudate	brain
46	chr12:12360400-12367600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:12360400-12368000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:12360800-12369000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:12360800-12374600	Weak transcription	Ovary	ovary
50	chr12:12361000-12367200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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