Variant report

Variant	rs12311871
Chromosome Location	chr12:104905753-104905754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12307498	1.00[AMR][1000 genomes]
rs12317943	1.00[AMR][1000 genomes]
rs73384136	1.00[AMR][1000 genomes]
rs73384149	1.00[AMR][1000 genomes]
rs73384150	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73384152	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73384160	0.85[AFR][1000 genomes];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	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	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:78 , 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	chr12:104897600-104907800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:104900000-104907200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:104901000-104906400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:104901000-104913200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:104901200-104907800	Weak transcription	Right Ventricle	heart
7	chr12:104901200-104919200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:104901400-104906400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr12:104901400-104907200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:104901400-104907800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:104901600-104906600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:104901800-104906600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:104901800-104907400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:104901800-104909400	Weak transcription	Pancreas	Pancrea
15	chr12:104901800-104920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:104902000-104906600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:104902000-104907000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:104902000-104907200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr12:104902000-104915600	Weak transcription	Fetal Brain Male	brain
20	chr12:104902200-104906600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:104902200-104906600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:104902200-104906600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:104903200-104906600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:104903400-104905800	Enhancers	Primary hematopoietic stem cells	blood
25	chr12:104903800-104905800	Enhancers	Rectal Smooth Muscle	rectum
26	chr12:104903800-104907200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:104904200-104909200	Weak transcription	Thymus	Thymus
28	chr12:104904400-104906600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:104904400-104907200	Weak transcription	Brain Germinal Matrix	brain
30	chr12:104904400-104907200	Weak transcription	Dnd41	blood
31	chr12:104904400-104907600	Weak transcription	Lung	lung
32	chr12:104904400-104910600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:104904400-104913400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr12:104904400-104916800	Weak transcription	A549	lung
35	chr12:104904400-104917600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr12:104904600-104906200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:104904600-104907400	Weak transcription	Fetal Brain Female	brain
38	chr12:104904600-104913200	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:104905000-104911000	Weak transcription	Primary B cells from cord blood	blood
40	chr12:104905200-104907400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:104905200-104907600	Weak transcription	Left Ventricle	heart
42	chr12:104905200-104909800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:104905200-104911000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:104905200-104912000	Weak transcription	GM12878-XiMat	blood
45	chr12:104905200-104913200	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:104905200-104913200	Weak transcription	Fetal Thymus	thymus
47	chr12:104905200-104913400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:104905200-104913400	Weak transcription	Fetal Lung	lung
49	chr12:104905200-104914600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:104905200-104916200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

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