Variant report

Variant	rs12239183
Chromosome Location	chr1:93833499-93833500
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	chr1:93833319..93835720-chr1:93836313..93839298,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10489733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1057256	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11799543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11799928	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800760	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801175	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801563	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802420	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802421	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11802822	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11805267	1.00[EUR][1000 genomes]
rs11807404	0.91[AMR][1000 genomes]
rs11808445	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11809153	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28829343	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41528947	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55734759	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55738503	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55741554	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56281837	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56401576	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56657492	0.82[ASN][1000 genomes]
rs58505360	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58770710	1.00[EUR][1000 genomes]
rs58807475	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59368083	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59609847	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59774396	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60079850	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60497651	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60813039	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61252284	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61335636	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61671588	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61690932	1.00[EUR][1000 genomes]
rs61729705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6541348	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6541360	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6541398	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663752	1.00[EUR][1000 genomes]
rs6664190	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6667540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6671070	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6675991	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6677114	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6679304	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6679630	1.00[ASN][1000 genomes]
rs6688199	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6689867	1.00[EUR][1000 genomes]
rs6695142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701683	1.00[ASN][1000 genomes]
rs6704067	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955402	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72957210	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72957220	0.82[ASN][1000 genomes]
rs72957300	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72959204	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72959216	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959225	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72959236	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959238	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959240	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959245	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72959255	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959260	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959267	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959273	1.00[ASN][1000 genomes]
rs72961310	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72961322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74101458	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74101470	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74104014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74104019	1.00[EUR][1000 genomes]
rs7512471	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7518171	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7518930	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527459	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7529230	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7533526	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7537939	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540960	1.00[ASN][1000 genomes]
rs7544352	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7545154	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7545358	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7548629	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs754899	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9324347	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9659202	0.83[AMR][1000 genomes]
rs9662414	0.91[AMR][1000 genomes];1.00[ASN][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	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93813400-93840000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:93813400-93840400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:93815400-93839800	Weak transcription	Aorta	Aorta
4	chr1:93815600-93834800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:93816600-93841800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:93816800-93841200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:93818000-93835400	Weak transcription	Small Intestine	intestine
8	chr1:93818400-93836000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:93818800-93837200	Weak transcription	Fetal Kidney	kidney
10	chr1:93819400-93834600	Strong transcription	Primary B cells from peripheral blood	blood
11	chr1:93820600-93837200	Weak transcription	Colonic Mucosa	Colon
12	chr1:93821000-93838800	Weak transcription	Ovary	ovary
13	chr1:93821200-93835200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:93822200-93835800	Strong transcription	Dnd41	blood
15	chr1:93822200-93840200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:93823800-93834600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:93824200-93838200	Weak transcription	Pancreas	Pancrea
18	chr1:93824200-93839400	Weak transcription	Lung	lung
19	chr1:93824200-93839800	Weak transcription	Fetal Brain Female	brain
20	chr1:93824200-93840000	Weak transcription	Right Ventricle	heart
21	chr1:93824200-93841000	Weak transcription	Brain Germinal Matrix	brain
22	chr1:93824200-93841000	Weak transcription	Spleen	Spleen
23	chr1:93824400-93839400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:93824400-93839400	Weak transcription	Brain Anterior Caudate	brain
25	chr1:93824400-93842000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:93824600-93838200	Weak transcription	Fetal Heart	heart
27	chr1:93824600-93840000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:93825000-93836000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:93825200-93833600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr1:93825200-93840800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:93825400-93833800	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:93825400-93840600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:93825600-93835200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:93825600-93839400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:93826200-93841400	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:93826400-93835800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:93827600-93834600	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:93827600-93834600	Weak transcription	Stomach Mucosa	stomach
39	chr1:93828200-93842400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:93828400-93833800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:93828400-93833800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:93828400-93834000	Strong transcription	GM12878-XiMat	blood
43	chr1:93828400-93834200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:93828400-93834200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:93828400-93834600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:93828600-93833600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:93828600-93834000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:93828600-93834200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:93828600-93834200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:93828600-93834200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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