Variant report

Variant	rs74060875
Chromosome Location	chr12:11988054-11988055
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11984792..11986374-chr12:11987471..11989426,2	K562	blood:
2	chr12:11983830..11986374-chr12:11987926..11989968,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16907514	1.00[AMR][1000 genomes]
rs55977745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56140733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57312986	1.00[AMR][1000 genomes]
rs57699137	1.00[AMR][1000 genomes]
rs57833941	1.00[AMR][1000 genomes]
rs57891658	1.00[AMR][1000 genomes]
rs58453187	1.00[AMR][1000 genomes]
rs58842201	1.00[AMR][1000 genomes]
rs59632980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59843195	1.00[AMR][1000 genomes]
rs73275248	1.00[AMR][1000 genomes]
rs73290521	1.00[AMR][1000 genomes]
rs73290524	1.00[AMR][1000 genomes]
rs73290599	1.00[AMR][1000 genomes]
rs74060863	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060864	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060865	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060881	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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11968800-12008200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:11975200-11995200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:11975400-12009000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:11975600-11989000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:11975600-11992200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:11975600-11993000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:11975800-11989200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:11976000-11992800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:11980400-12006000	Weak transcription	HSMMtube	muscle
10	chr12:11980800-12022600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:11981200-11992000	Weak transcription	HSMM	muscle
12	chr12:11982000-11993000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:11982400-11991400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:11982400-11993400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:11982400-11994200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:11982600-11988400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:11982600-11988400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:11982600-11988400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:11983000-11991800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:11983200-11989000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:11983200-11991200	Weak transcription	Fetal Intestine Large	intestine
22	chr12:11983200-11991600	Weak transcription	Fetal Stomach	stomach
23	chr12:11983200-11993200	Weak transcription	Fetal Lung	lung
24	chr12:11983600-11988400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:11983600-11988400	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:11983600-11988600	Weak transcription	Thymus	Thymus
27	chr12:11983600-11989600	Weak transcription	Lung	lung
28	chr12:11983600-11990400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:11983600-12004400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:11983600-12008200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:11983600-12008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:11983800-11988400	Weak transcription	Psoas Muscle	Psoas
33	chr12:11983800-11988800	Weak transcription	Primary T cells from cord blood	blood
34	chr12:11983800-11988800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:11983800-11989000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:11983800-11989000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:11983800-11989600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:11983800-11989600	Weak transcription	Ovary	ovary
39	chr12:11983800-11991200	Weak transcription	Placenta	Placenta
40	chr12:11983800-12008200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr12:11984000-11989600	Weak transcription	Fetal Heart	heart
42	chr12:11984000-11992200	Weak transcription	NHEK	skin
43	chr12:11984200-11991400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:11984200-11993800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:11984400-11991200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr12:11984800-11988200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:11984800-11988200	Enhancers	Liver	Liver
48	chr12:11984800-11990200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr12:11985000-11993200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr12:11985200-11988600	Genic enhancers	Primary hematopoietic stem cells	blood

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