Variant report

Variant	rs17249264
Chromosome Location	chr12:67864308-67864309
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	chr12:67863219..67865186-chr12:67987015..67989765,2	MCF-7	breast:
2	chr12:67862704..67864358-chr12:67875448..67878229,2	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10506552	1.00[AFR][1000 genomes]
rs11176728	1.00[EUR][1000 genomes]
rs17781705	1.00[AFR][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	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67862600-67864800	Enhancers	Fetal Thymus	thymus
2	chr12:67862800-67864400	Enhancers	Dnd41	blood
3	chr12:67862800-67866800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr12:67862800-67868400	Enhancers	Fetal Heart	heart
5	chr12:67863000-67864400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:67863000-67864400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:67863000-67864400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr12:67863000-67864400	Enhancers	Colon Smooth Muscle	Colon
9	chr12:67863000-67864600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr12:67863200-67864400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:67863200-67864600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr12:67863200-67864600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:67863200-67864800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:67863200-67868600	Weak transcription	HSMM	muscle
15	chr12:67863400-67864600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr12:67863400-67864600	Enhancers	Primary T cells from cord blood	blood
17	chr12:67863400-67864600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr12:67863600-67865200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:67863600-67865400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:67863600-67865400	Weak transcription	Ovary	ovary
21	chr12:67863600-67865600	Weak transcription	Right Atrium	heart
22	chr12:67863800-67864600	Weak transcription	Right Ventricle	heart
23	chr12:67863800-67865400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:67863800-67865400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:67863800-67865400	Weak transcription	Left Ventricle	heart
26	chr12:67863800-67865400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:67863800-67865600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:67863800-67865600	Weak transcription	Brain Hippocampus Middle	brain
29	chr12:67863800-67866400	Weak transcription	Fetal Stomach	stomach
30	chr12:67863800-67866600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:67863800-67867600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:67863800-67867800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:67863800-67870400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:67864000-67864400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:67864000-67864400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:67864000-67864400	Weak transcription	Fetal Brain Male	brain
37	chr12:67864000-67865400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:67864000-67865400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:67864000-67865400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr12:67864000-67865400	Weak transcription	Fetal Muscle Leg	muscle
41	chr12:67864000-67865400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:67864000-67865600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:67864200-67865200	Weak transcription	Brain Germinal Matrix	brain
44	chr12:67864200-67865400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr12:67864200-67865600	Weak transcription	Fetal Lung	lung
46	chr12:67864200-67865800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr12:67864200-67871600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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