Variant report

Variant	rs73384136
Chromosome Location	chr12:104904778-104904779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr12:104904671-104905023	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104902488..104905052-chr12:104962127..104964192,2	K562	blood:

Variant related genes	Relation type
ENSG00000258111	TF binding region

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]
rs12307498	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12311871	1.00[AMR][1000 genomes]
rs12317943	1.00[AMR][1000 genomes]
rs73384149	0.84[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	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:87 , 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	chr12:104897400-104905600	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:104897600-104907800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:104898400-104905000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:104898800-104905200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr12:104898800-104905600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr12:104900000-104907200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:104900200-104905400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:104901000-104905600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr12:104901000-104906400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:104901000-104913200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:104901200-104907800	Weak transcription	Right Ventricle	heart
13	chr12:104901200-104919200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:104901400-104905000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:104901400-104906400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr12:104901400-104907200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:104901400-104907800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:104901600-104904800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:104901600-104906600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:104901800-104906600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:104901800-104907400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:104901800-104909400	Weak transcription	Pancreas	Pancrea
23	chr12:104901800-104920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:104902000-104906600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:104902000-104907000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:104902000-104907200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:104902000-104915600	Weak transcription	Fetal Brain Male	brain
28	chr12:104902200-104906600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:104902200-104906600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:104902200-104906600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:104902600-104905600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:104902800-104905000	Weak transcription	Spleen	Spleen
33	chr12:104903000-104905200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr12:104903200-104905600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:104903200-104905600	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr12:104903200-104906600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:104903400-104905000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:104903400-104905000	Enhancers	Primary B cells from cord blood	blood
39	chr12:104903400-104905200	Enhancers	GM12878-XiMat	blood
40	chr12:104903400-104905400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr12:104903400-104905600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr12:104903400-104905800	Enhancers	Primary hematopoietic stem cells	blood
43	chr12:104903600-104904800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr12:104903600-104904800	Enhancers	Brain Anterior Caudate	brain
45	chr12:104903600-104905000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr12:104903600-104905200	Enhancers	Fetal Thymus	thymus
47	chr12:104903600-104905400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:104903600-104905600	Enhancers	Colon Smooth Muscle	Colon
49	chr12:104903800-104905200	Enhancers	Fetal Lung	lung
50	chr12:104903800-104905200	Enhancers	Sigmoid Colon	Sigmoid Colon

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