Variant report

Variant	rs12307498
Chromosome Location	chr12:104908672-104908673
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	chr12:104908202..104911501-chr12:104915065..104918852,3	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12306787	1.00[AMR][1000 genomes]
rs12306794	1.00[AMR][1000 genomes]
rs12311871	1.00[AMR][1000 genomes]
rs12317943	1.00[AMR][1000 genomes]
rs73384136	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73384149	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73384150	1.00[AMR][1000 genomes]
rs73384152	1.00[AMR][1000 genomes]
rs73384160	1.00[AMR][1000 genomes]
rs73384169	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv975527	chr12:104907535-104909236	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104894800-104913000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:104901000-104913200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:104901200-104919200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:104901800-104909400	Weak transcription	Pancreas	Pancrea
5	chr12:104901800-104920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:104902000-104915600	Weak transcription	Fetal Brain Male	brain
7	chr12:104904200-104909200	Weak transcription	Thymus	Thymus
8	chr12:104904400-104910600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:104904400-104913400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:104904400-104916800	Weak transcription	A549	lung
11	chr12:104904400-104917600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:104904600-104913200	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:104905000-104911000	Weak transcription	Primary B cells from cord blood	blood
14	chr12:104905200-104909800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr12:104905200-104911000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:104905200-104912000	Weak transcription	GM12878-XiMat	blood
17	chr12:104905200-104913200	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:104905200-104913200	Weak transcription	Fetal Thymus	thymus
19	chr12:104905200-104913400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:104905200-104913400	Weak transcription	Fetal Lung	lung
21	chr12:104905200-104914600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:104905200-104916200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr12:104905200-104916600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:104905400-104909400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:104905400-104912400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:104905400-104912800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:104905400-104914000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:104905600-104909000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr12:104905600-104909400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:104905600-104909400	Weak transcription	Gastric	stomach
31	chr12:104905600-104910000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr12:104905600-104912400	Weak transcription	Primary T cells from cord blood	blood
33	chr12:104905600-104912400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr12:104905600-104913000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:104905600-104913200	Weak transcription	Aorta	Aorta
36	chr12:104905600-104913400	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:104905600-104913400	Weak transcription	Spleen	Spleen
38	chr12:104905800-104916800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:104906200-104909400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr12:104906400-104909400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr12:104906400-104909800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:104906600-104909400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:104906800-104912200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr12:104906800-104917600	Weak transcription	HSMM	muscle
45	chr12:104907200-104911200	Enhancers	Placenta	Placenta
46	chr12:104907400-104910200	Genic enhancers	Dnd41	blood
47	chr12:104907400-104917000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr12:104907600-104909200	Enhancers	Lung	lung
49	chr12:104907600-104910200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:104907600-104911000	Enhancers	Primary B cells from peripheral blood	blood

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