Variant report

Variant	rs73384149
Chromosome Location	chr12:104911477-104911478
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104907729..104909592-chr12:104911177..104913052,2	K562	blood:
2	chr12:104909660..104911855-chr12:104915030..104918297,3	K562	blood:
3	chr12:104908202..104911501-chr12:104915065..104918852,3	MCF-7	breast:
4	chr12:104909053..104911961-chr12:104913731..104916040,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258111	Chromatin interaction

Extended variants
information (count: 11 )
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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12311871	1.00[AMR][1000 genomes]
rs12317943	1.00[AMR][1000 genomes]
rs73384136	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: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:72 , 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	chr12:104901800-104920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:104902000-104915600	Weak transcription	Fetal Brain Male	brain
6	chr12:104904400-104913400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:104904400-104916800	Weak transcription	A549	lung
8	chr12:104904400-104917600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:104904600-104913200	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:104905200-104912000	Weak transcription	GM12878-XiMat	blood
11	chr12:104905200-104913200	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:104905200-104913200	Weak transcription	Fetal Thymus	thymus
13	chr12:104905200-104913400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:104905200-104913400	Weak transcription	Fetal Lung	lung
15	chr12:104905200-104914600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:104905200-104916200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr12:104905200-104916600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:104905400-104912400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:104905400-104912800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:104905400-104914000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:104905600-104912400	Weak transcription	Primary T cells from cord blood	blood
22	chr12:104905600-104912400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:104905600-104913000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:104905600-104913200	Weak transcription	Aorta	Aorta
25	chr12:104905600-104913400	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:104905600-104913400	Weak transcription	Spleen	Spleen
27	chr12:104905800-104916800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:104906800-104912200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr12:104906800-104917600	Weak transcription	HSMM	muscle
30	chr12:104907400-104917000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:104907600-104912800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:104907600-104913200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:104907600-104917000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:104907800-104911800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:104907800-104913200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:104907800-104915200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:104908000-104913000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:104908000-104913000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:104908000-104913400	Weak transcription	Fetal Brain Female	brain
40	chr12:104908400-104913200	Weak transcription	Left Ventricle	heart
41	chr12:104908600-104920600	Weak transcription	Right Ventricle	heart
42	chr12:104909400-104913800	Enhancers	Primary hematopoietic stem cells	blood
43	chr12:104909400-104919200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr12:104909400-104919400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:104909600-104913200	Weak transcription	Right Atrium	heart
46	chr12:104909800-104911600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:104909800-104912000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:104909800-104913600	Weak transcription	Brain Anterior Caudate	brain
49	chr12:104909800-104915000	Weak transcription	Pancreas	Pancrea
50	chr12:104909800-104919400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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