Variant report

Variant	rs73388131
Chromosome Location	chr12:105037241-105037242
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105031820..105034893-chr12:105036488..105039700,3	K562	blood:
2	chr12:105031559..105034893-chr12:105035808..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]
rs73388122	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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105020800-105037800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:105021000-105037800	Weak transcription	NHEK	skin
3	chr12:105022400-105048200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:105022800-105043200	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:105024600-105044200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:105024800-105038200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:105027600-105038000	Weak transcription	Colonic Mucosa	Colon
8	chr12:105027800-105037800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:105030400-105037400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:105030600-105037400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:105031800-105038400	Weak transcription	Brain Anterior Caudate	brain
12	chr12:105032400-105037800	Weak transcription	Gastric	stomach
13	chr12:105032400-105037800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:105032800-105038000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:105033000-105050200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:105033400-105037600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:105033400-105038200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:105033400-105050200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:105033600-105037800	Weak transcription	Right Ventricle	heart
20	chr12:105033600-105038200	Weak transcription	Left Ventricle	heart
21	chr12:105033600-105040600	Weak transcription	A549	lung
22	chr12:105033600-105050200	Weak transcription	Right Atrium	heart
23	chr12:105035000-105037600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:105035000-105037800	Weak transcription	Lung	lung
25	chr12:105035000-105045200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:105035200-105038800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr12:105035200-105039800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:105035400-105037800	Weak transcription	Fetal Intestine Small	intestine
29	chr12:105035400-105038400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:105035400-105039200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:105035400-105039600	Enhancers	Primary B cells from peripheral blood	blood
32	chr12:105035400-105050200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:105035800-105054000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:105036000-105037400	Enhancers	Dnd41	blood
35	chr12:105036000-105037600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:105036200-105038600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:105036400-105038600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr12:105036600-105038400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:105036600-105038600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:105036600-105038600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr12:105036600-105045200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:105036800-105037400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:105036800-105038600	Enhancers	Primary T cells from cord blood	blood
44	chr12:105036800-105038600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr12:105036800-105038600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:105036800-105038800	Enhancers	Spleen	Spleen
47	chr12:105036800-105038800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr12:105036800-105039400	Enhancers	Primary T cells fromperipheralblood	blood
49	chr12:105037000-105037400	Enhancers	Primary hematopoietic stem cells	blood
50	chr12:105037000-105037800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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