Variant report

Variant	rs7980906
Chromosome Location	chr12:123242091-123242092
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123240856..123246035-chr12:123255741..123259598,6	MCF-7	breast:
2	chr12:123235308..123239495-chr12:123239510..123247125,14	MCF-7	breast:
3	chr12:123236060..123239548-chr12:123239608..123242338,6	MCF-7	breast:
4	chr12:123120971..123123822-chr12:123241913..123244089,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139726	Chromatin interaction
ENSG00000130783	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12305822	0.86[YRI][hapmap]
rs12321556	0.86[YRI][hapmap]
rs57629892	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58904977	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60201019	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61098256	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7297797	0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7962224	0.91[AFR][1000 genomes]
rs7978294	0.87[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123238200-123242600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:123238200-123249400	Weak transcription	Aorta	Aorta
3	chr12:123238400-123243000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:123238400-123258000	Strong transcription	Fetal Muscle Trunk	muscle
5	chr12:123238600-123242400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:123238600-123245200	Strong transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:123238600-123248400	Weak transcription	Right Ventricle	heart
8	chr12:123238600-123249000	Weak transcription	Fetal Heart	heart
9	chr12:123238600-123250800	Weak transcription	Stomach Mucosa	stomach
10	chr12:123238600-123255600	Strong transcription	Fetal Intestine Large	intestine
11	chr12:123238600-123255800	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr12:123238600-123258800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:123238800-123242200	Weak transcription	Gastric	stomach
14	chr12:123238800-123242400	Weak transcription	Small Intestine	intestine
15	chr12:123238800-123242600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:123238800-123242600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:123238800-123242600	Weak transcription	Colonic Mucosa	Colon
18	chr12:123238800-123242600	Weak transcription	Spleen	Spleen
19	chr12:123238800-123243200	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:123238800-123243400	Strong transcription	Brain Substantia Nigra	brain
21	chr12:123238800-123244000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:123238800-123244200	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:123238800-123244600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:123238800-123245000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:123238800-123245200	Strong transcription	Fetal Lung	lung
26	chr12:123238800-123245400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:123238800-123245400	Weak transcription	Esophagus	oesophagus
28	chr12:123238800-123245600	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr12:123238800-123245600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:123238800-123246000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr12:123238800-123246000	Weak transcription	Pancreas	Pancrea
32	chr12:123238800-123246200	Strong transcription	Brain Cingulate Gyrus	brain
33	chr12:123238800-123246400	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:123238800-123246600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:123238800-123255600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr12:123238800-123255600	Strong transcription	Fetal Muscle Leg	muscle
37	chr12:123238800-123255800	Strong transcription	Primary B cells from cord blood	blood
38	chr12:123238800-123255800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:123238800-123255800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:123238800-123255800	Strong transcription	Liver	Liver
41	chr12:123238800-123256000	Strong transcription	NH-A	brain
42	chr12:123238800-123256200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:123238800-123256200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:123238800-123256200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:123238800-123256200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:123238800-123256600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr12:123238800-123257400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:123238800-123257400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:123238800-123257600	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:123238800-123257800	Strong transcription	Fetal Thymus	thymus

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