Variant report

Variant	rs1296041
Chromosome Location	chr12:57989442-57989443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57980291..57988961-chr12:57988993..57992835,10	MCF-7	breast:
2	chr12:57926277..57928720-chr12:57987336..57989718,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175203	Chromatin interaction
ENSG00000166908	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1284185	0.86[EUR][1000 genomes]
rs775242	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
6	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
7	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
8	nsv541504	chr12:57958701-58062311	Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv725	chr12:57966549-57993808	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57985800-57998000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:57985800-57998400	Weak transcription	HSMMtube	muscle
3	chr12:57986000-57989600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:57986000-57990400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:57986000-57992800	Weak transcription	Aorta	Aorta
6	chr12:57986200-57989600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:57986200-57989600	Weak transcription	Liver	Liver
8	chr12:57986200-57991800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:57986200-57992400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:57986200-57992600	Weak transcription	Ovary	ovary
11	chr12:57986200-57992800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:57986200-57992800	Weak transcription	Fetal Kidney	kidney
13	chr12:57986200-57992800	Weak transcription	Psoas Muscle	Psoas
14	chr12:57986200-57993400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:57986200-57993600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:57986200-57993800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:57986200-57994600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:57986200-57994800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:57986200-57997200	Weak transcription	Fetal Lung	lung
20	chr12:57986200-57997400	Weak transcription	Right Atrium	heart
21	chr12:57986200-57997400	Weak transcription	NHDF-Ad	bronchial
22	chr12:57986400-57998000	Weak transcription	NHLF	lung
23	chr12:57986600-57989600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:57986600-57989600	Weak transcription	Colonic Mucosa	Colon
25	chr12:57986600-57989600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:57986600-57990200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:57986600-57992800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:57986600-57992800	Weak transcription	Osteobl	bone
29	chr12:57986600-57993200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:57986600-57997600	Weak transcription	NH-A	brain
31	chr12:57986600-57998200	Weak transcription	HSMM	muscle
32	chr12:57986800-57989600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:57986800-57989600	Weak transcription	A549	lung
34	chr12:57986800-57992800	Weak transcription	Small Intestine	intestine
35	chr12:57987000-57997200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:57987200-57989600	Weak transcription	Brain Angular Gyrus	brain
37	chr12:57987200-57990400	Weak transcription	HepG2	liver
38	chr12:57987200-57992800	Weak transcription	Brain Germinal Matrix	brain
39	chr12:57987200-57992800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:57987200-57992800	Weak transcription	Right Ventricle	heart
41	chr12:57987200-57992800	Weak transcription	GM12878-XiMat	blood
42	chr12:57987200-57996600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr12:57987200-57997200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:57987200-57998400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr12:57987400-57992400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:57987400-57994000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr12:57987400-57997400	Weak transcription	Fetal Brain Male	brain
48	chr12:57987600-57990400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:57987600-57990800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:57987600-57996200	Strong transcription	Primary T helper cells fromperipheralblood	blood

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