Variant report

Variant	rs11172395
Chromosome Location	chr12:58352093-58352094
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:58339593..58341366-chr12:58350590..58353556,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10219484	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11172396	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11504032	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11504034	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312532	0.88[AFR][1000 genomes];1.00[AMR][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	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases
2	nsv523853	chr12:58350631-58386722	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv975500	chr12:58351052-58362673	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58336000-58353000	Weak transcription	Small Intestine	intestine
2	chr12:58336200-58353000	Weak transcription	Stomach Mucosa	stomach
3	chr12:58336200-58353400	Weak transcription	Fetal Kidney	kidney
4	chr12:58336200-58353600	Weak transcription	Brain Substantia Nigra	brain
5	chr12:58336200-58353600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:58336200-58353800	Weak transcription	Brain Angular Gyrus	brain
7	chr12:58336200-58353800	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:58336200-58354000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:58336200-58354000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:58336200-58354000	Weak transcription	Psoas Muscle	Psoas
11	chr12:58336200-58356200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:58336200-58359600	Weak transcription	A549	lung
13	chr12:58336400-58359600	Weak transcription	HMEC	breast
14	chr12:58336800-58353000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:58337200-58358400	Weak transcription	HepG2	liver
16	chr12:58339600-58352200	Strong transcription	Primary T cells from cord blood	blood
17	chr12:58340600-58352200	Strong transcription	Fetal Thymus	thymus
18	chr12:58341000-58352200	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr12:58342800-58352400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:58343200-58352600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:58345000-58352600	Strong transcription	Dnd41	blood
22	chr12:58346400-58352600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:58347800-58352600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:58348200-58352400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:58348200-58352400	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:58348800-58352200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:58348800-58353800	Weak transcription	Osteobl	bone
28	chr12:58350200-58352200	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr12:58350200-58352600	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:58350400-58352600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:58350400-58352600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:58350400-58352600	Strong transcription	Adipose Nuclei	Adipose
33	chr12:58350600-58352400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
34	chr12:58350600-58352800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:58350600-58355400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:58350800-58352200	Strong transcription	Stomach Smooth Muscle	stomach
37	chr12:58350800-58352600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:58351000-58352200	Weak transcription	Fetal Brain Female	brain
39	chr12:58351000-58352400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:58351000-58352400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:58351000-58352600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:58351000-58352600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:58351000-58352600	Strong transcription	Colonic Mucosa	Colon
44	chr12:58351000-58352600	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:58351200-58352200	Strong transcription	Fetal Muscle Trunk	muscle
46	chr12:58351200-58352200	Strong transcription	Ovary	ovary
47	chr12:58351200-58352400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:58351200-58352400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:58351200-58352400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
50	chr12:58351200-58352400	Strong transcription	Primary T cells fromperipheralblood	blood

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