Variant report

Variant	rs73388122
Chromosome Location	chr12:105034765-105034766
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105034278..105037012-chr12:105037513..105039770,2	MCF-7	breast:
2	chr12:105031559..105034893-chr12:105035808..105039700,3	K562	blood:
3	chr12:105031820..105034893-chr12:105036488..105039700,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11833657	1.00[AFR][1000 genomes]
rs73386276	1.00[AFR][1000 genomes]
rs73386283	1.00[AFR][1000 genomes]
rs73386298	1.00[AFR][1000 genomes]
rs73388107	1.00[AFR][1000 genomes]
rs73388120	1.00[AFR][1000 genomes]
rs73388131	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105006200-105034800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:105013800-105037000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:105017000-105036000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:105020800-105037800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:105021000-105037800	Weak transcription	NHEK	skin
6	chr12:105022400-105048200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:105022800-105043200	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:105023000-105036800	Weak transcription	Primary T cells from cord blood	blood
9	chr12:105024600-105044200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:105024800-105038200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:105026800-105036800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:105027600-105038000	Weak transcription	Colonic Mucosa	Colon
13	chr12:105027800-105037800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:105030400-105037400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:105030600-105036600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:105030600-105037400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:105030800-105037200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr12:105031800-105036800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:105031800-105037000	Weak transcription	K562	blood
20	chr12:105031800-105038400	Weak transcription	Brain Anterior Caudate	brain
21	chr12:105032000-105036800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr12:105032400-105036800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:105032400-105037200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr12:105032400-105037800	Weak transcription	Gastric	stomach
25	chr12:105032400-105037800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:105032600-105035600	ZNF genes & repeats	GM12878-XiMat	blood
27	chr12:105032800-105035000	ZNF genes & repeats	Primary B cells from cord blood	blood
28	chr12:105032800-105035200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:105032800-105035200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:105032800-105036800	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr12:105032800-105038000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:105033000-105050200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:105033200-105035000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr12:105033200-105035200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr12:105033200-105035200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr12:105033200-105036400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr12:105033400-105035000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:105033400-105037600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:105033400-105038200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:105033400-105050200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:105033600-105035000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:105033600-105035400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
43	chr12:105033600-105036200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:105033600-105037800	Weak transcription	Right Ventricle	heart
45	chr12:105033600-105038200	Weak transcription	Left Ventricle	heart
46	chr12:105033600-105040600	Weak transcription	A549	lung
47	chr12:105033600-105050200	Weak transcription	Right Atrium	heart
48	chr12:105033800-105035000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:105034000-105035200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:105034400-105034800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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