Variant report

Variant	rs706515
Chromosome Location	chr12:26106907-26106908
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26105978..26107821-chr12:26108027..26109546,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BHLHE41-2	chr12:26105691-26109280	NONHSAT027366

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10842639	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167633	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1177523	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1182886	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12297557	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12308555	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16929800	0.82[EUR][1000 genomes]
rs2643932	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs706514	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706517	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706540	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs706541	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7139410	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7315080	0.82[EUR][1000 genomes]
rs829822	0.84[EUR][1000 genomes]
rs829828	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829833	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs860490	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs865505	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs931583	0.82[EUR][1000 genomes]
rs995796	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv557802	chr12:26093161-26112158	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv3413766	chr12:26106544-26107734	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26085400-26110600	Weak transcription	Aorta	Aorta
2	chr12:26086800-26110600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:26090200-26110200	Weak transcription	Brain Substantia Nigra	brain
4	chr12:26090400-26107800	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:26091000-26107000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:26091400-26110000	Weak transcription	Psoas Muscle	Psoas
7	chr12:26092000-26110600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:26092400-26108600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:26092800-26109400	Weak transcription	Ovary	ovary
10	chr12:26093400-26110400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:26095800-26108600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:26095800-26111000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:26096200-26107600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:26096600-26107000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:26096600-26107000	Weak transcription	Left Ventricle	heart
16	chr12:26097400-26107000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:26097400-26110600	Weak transcription	Right Ventricle	heart
18	chr12:26097600-26107000	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:26097600-26110400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:26098000-26110200	Weak transcription	HSMM	muscle
21	chr12:26099000-26107000	Weak transcription	NHDF-Ad	bronchial
22	chr12:26099800-26107800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:26099800-26110200	Weak transcription	Brain Anterior Caudate	brain
24	chr12:26101400-26110600	Weak transcription	Placenta	Placenta
25	chr12:26102800-26107800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:26104000-26109400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:26104000-26110600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:26104200-26107000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:26104200-26107000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:26104200-26107000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:26104200-26110200	Weak transcription	NH-A	brain
32	chr12:26104200-26110200	Weak transcription	NHEK	skin
33	chr12:26104200-26110600	Weak transcription	Liver	Liver
34	chr12:26104400-26107200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:26104400-26110400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr12:26104600-26109600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:26104600-26110000	Weak transcription	Hela-S3	cervix
38	chr12:26105400-26110000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:26105400-26110200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:26105600-26109200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:26105600-26110000	Weak transcription	NHLF	lung
42	chr12:26105800-26110600	Weak transcription	Fetal Intestine Small	intestine
43	chr12:26105800-26110600	Weak transcription	HSMMtube	muscle
44	chr12:26106000-26107400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:26106000-26110800	Weak transcription	Colon Smooth Muscle	Colon
46	chr12:26106200-26107000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:26106400-26110200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr12:26106400-26110600	Weak transcription	Adipose Nuclei	Adipose
49	chr12:26106400-26110600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:26106600-26109000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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