Variant report

Variant	rs12129919
Chromosome Location	chr1:63261356-63261357
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	chr1:63259687..63262004-chr1:63264703..63267099,2	K562	blood:

Extended variants
information (count: 139 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10159426	0.85[ASN][1000 genomes]
rs10493327	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10736399	0.91[ASN][1000 genomes]
rs10749734	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10749735	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10789124	0.87[ASN][1000 genomes]
rs10789125	0.93[ASN][1000 genomes]
rs10789129	0.87[ASN][1000 genomes]
rs10889366	0.82[ASN][1000 genomes]
rs10889371	0.87[ASN][1000 genomes]
rs10889372	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10889374	0.87[ASN][1000 genomes]
rs10889375	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10889376	0.88[ASN][1000 genomes]
rs10889383	0.83[ASN][1000 genomes]
rs10889384	0.83[ASN][1000 genomes]
rs10889385	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10889386	0.85[ASN][1000 genomes]
rs11208013	0.82[ASN][1000 genomes]
rs11208019	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11208021	0.83[ASN][1000 genomes]
rs11208023	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11208024	0.95[ASN][1000 genomes]
rs11208025	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11208026	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11208027	0.93[ASN][1000 genomes]
rs11208032	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11208035	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11208036	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11208037	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11208038	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11208040	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11208043	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11208045	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11208046	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11208047	0.83[ASN][1000 genomes]
rs11208049	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11208050	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11208051	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11208052	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11208056	0.85[EUR][1000 genomes]
rs11579171	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11579518	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11580642	0.85[EUR][1000 genomes]
rs11584363	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11587081	0.81[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11803404	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11804568	0.85[EUR][1000 genomes]
rs11807368	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12085904	0.87[ASN][1000 genomes]
rs12120847	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12128286	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12134455	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12138091	0.88[ASN][1000 genomes]
rs12567340	0.91[ASN][1000 genomes]
rs12567999	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12725996	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12728111	0.85[EUR][1000 genomes]
rs12742537	0.85[EUR][1000 genomes]
rs12743698	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12748640	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12749904	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12750156	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12752360	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12756081	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1333730	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1333736	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1360677	0.81[ASN][1000 genomes]
rs1360678	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1537496	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17097064	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1931079	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1981067	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2149115	0.87[ASN][1000 genomes]
rs2366820	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2366821	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2366822	0.83[ASN][1000 genomes]
rs2886770	0.80[CHB][hapmap];0.85[ASN][1000 genomes]
rs2886771	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3737892	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3737893	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4396149	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4448545	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6587990	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6587991	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6587992	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6587993	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6587994	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6587996	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6587997	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6587998	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6656119	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6656747	0.88[ASN][1000 genomes]
rs6657235	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6657707	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660873	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6663165	0.83[ASN][1000 genomes]
rs6664372	0.87[ASN][1000 genomes]
rs6664673	0.87[ASN][1000 genomes]
rs6664677	0.95[ASN][1000 genomes]
rs6665455	0.85[ASN][1000 genomes]
rs6665932	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6670072	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6670694	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6676637	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6676821	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6677051	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6679582	0.83[ASN][1000 genomes]
rs6682286	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6683423	0.85[ASN][1000 genomes]
rs6683732	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6683832	0.80[CHB][hapmap];0.88[ASN][1000 genomes]
rs6685784	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6686232	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6687943	0.83[ASN][1000 genomes]
rs6693530	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6695607	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6702274	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7414021	0.87[ASN][1000 genomes]
rs7512374	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7512529	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7513520	0.90[EUR][1000 genomes]
rs7515960	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7517722	0.87[ASN][1000 genomes]
rs7519205	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7521483	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7524508	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7526246	0.84[EUR][1000 genomes]
rs7527423	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7527905	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7531329	0.81[ASN][1000 genomes]
rs7540030	0.90[ASN][1000 genomes]
rs7540205	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7543380	0.87[ASN][1000 genomes]
rs7546804	0.82[ASN][1000 genomes]
rs7553110	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7555606	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs998096	0.86[EUR][1000 genomes];0.86[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	nsv830015	chr1:63261143-63455296	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63250600-63262400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:63250600-63266600	Weak transcription	Gastric	stomach
3	chr1:63250800-63319000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:63251000-63266600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:63251000-63269600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:63251000-63272600	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:63251000-63274800	Weak transcription	Fetal Intestine Small	intestine
8	chr1:63251000-63296000	Weak transcription	Fetal Thymus	thymus
9	chr1:63251000-63317800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:63251000-63327400	Weak transcription	Fetal Stomach	stomach
11	chr1:63251200-63327400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:63251400-63264800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:63251400-63275600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:63251800-63273000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:63252000-63266600	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:63252000-63269600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:63252000-63284400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:63252800-63272400	Weak transcription	Primary T cells from cord blood	blood
19	chr1:63257400-63293400	Weak transcription	Brain Anterior Caudate	brain
20	chr1:63258400-63261400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:63259000-63263200	Enhancers	Primary B cells from peripheral blood	blood
22	chr1:63259000-63263400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr1:63259000-63263600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:63259400-63262800	Enhancers	Brain Substantia Nigra	brain
25	chr1:63259600-63261400	Enhancers	Brain Cingulate Gyrus	brain
26	chr1:63259600-63262000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:63259800-63263000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:63260200-63261600	Enhancers	Primary B cells from cord blood	blood
29	chr1:63260200-63262200	Weak transcription	GM12878-XiMat	blood
30	chr1:63260200-63273000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:63260800-63261400	Enhancers	Fetal Lung	lung
32	chr1:63260800-63262800	Enhancers	Primary hematopoietic stem cells	blood
33	chr1:63261000-63269400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:63261200-63261400	Enhancers	Rectal Smooth Muscle	rectum
35	chr1:63261200-63262800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr1:63261200-63265600	Weak transcription	Brain Hippocampus Middle	brain

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