Variant report

Variant	rs12306787
Chromosome Location	chr12:104914863-104914864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104909053..104911961-chr12:104913731..104916040,2	MCF-7	breast:
2	chr12:104913735..104915662-chr12:104916731..104918448,2	K562	blood:
3	chr12:104907056..104912149-chr12:104913273..104918297,6	K562	blood:

Variant related genes	Relation type
ENSG00000258111	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12297080	1.00[MEX][hapmap]
rs12306264	1.00[MEX][hapmap]
rs12306794	0.94[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12307498	1.00[AMR][1000 genomes]
rs12311871	1.00[AMR][1000 genomes]
rs12317943	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs2374400	1.00[YRI][hapmap]
rs73384136	1.00[AMR][1000 genomes]
rs73384149	1.00[AMR][1000 genomes]
rs73384150	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73384152	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73384160	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73384169	1.00[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	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104901200-104919200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:104901800-104920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:104902000-104915600	Weak transcription	Fetal Brain Male	brain
4	chr12:104904400-104916800	Weak transcription	A549	lung
5	chr12:104904400-104917600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:104905200-104916200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:104905200-104916600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:104905800-104916800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:104906800-104917600	Weak transcription	HSMM	muscle
10	chr12:104907400-104917000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:104907600-104917000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:104907800-104915200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:104908600-104920600	Weak transcription	Right Ventricle	heart
14	chr12:104909400-104919200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr12:104909400-104919400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:104909800-104915000	Weak transcription	Pancreas	Pancrea
17	chr12:104909800-104919400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:104910000-104917000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr12:104910400-104918200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:104911000-104921800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:104911200-104915600	Enhancers	Brain Germinal Matrix	brain
22	chr12:104911400-104918600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr12:104911600-104915600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr12:104911800-104916200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr12:104912000-104919200	Enhancers	Primary B cells from peripheral blood	blood
26	chr12:104912200-104915200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr12:104912400-104918400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:104912800-104915600	Enhancers	Small Intestine	intestine
29	chr12:104912800-104919200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr12:104913000-104915400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr12:104913000-104915600	Genic enhancers	Dnd41	blood
32	chr12:104913200-104915200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr12:104913200-104915600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr12:104913200-104915600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr12:104913200-104915600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:104913200-104915600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:104913200-104915800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:104913200-104917800	Enhancers	Right Atrium	heart
39	chr12:104913200-104918600	Enhancers	Placenta	Placenta
40	chr12:104913400-104915800	Enhancers	Gastric	stomach
41	chr12:104913400-104918600	Enhancers	Spleen	Spleen
42	chr12:104913600-104915000	Enhancers	Brain Anterior Caudate	brain
43	chr12:104913600-104919600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:104913800-104916800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:104913800-104916800	Weak transcription	Brain Angular Gyrus	brain
46	chr12:104913800-104917200	Weak transcription	Brain Hippocampus Middle	brain
47	chr12:104914000-104915000	Weak transcription	Thymus	Thymus
48	chr12:104914000-104915400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr12:104914000-104916200	Weak transcription	Fetal Thymus	thymus
50	chr12:104914000-104916800	Weak transcription	Colon Smooth Muscle	Colon

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