Variant report

Variant	rs35708549
Chromosome Location	chr2:128148764-128148765
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	chr2:128143573..128147652-chr2:128148684..128152903,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PROC-3	chr2:128148082-128148977	NONHSAT074155

Variant related genes	Relation type
ENSG00000169967	Chromatin interaction
ENSG00000236682	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10167294	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10928764	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1143407	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11684068	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11899601	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12613252	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12613254	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12613413	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12614320	0.86[EUR][1000 genomes]
rs12617858	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12619391	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13017103	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13034157	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13390029	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13403918	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13409933	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13414676	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13429925	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2134794	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2139142	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2276682	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2276683	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28807127	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34006114	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34601617	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3738948	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3893313	0.80[EUR][1000 genomes]
rs4150434	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4150492	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4150506	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4150514	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4300780	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4359587	0.80[EUR][1000 genomes]
rs4662721	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4662724	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58063879	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59027829	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6430937	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6716392	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6735779	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6761391	0.90[ASN][1000 genomes]
rs67771362	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9923	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs35708549	AC068282.3	cis	Esophagus Muscularis	GTEx
rs35708549	AC068282.3	cis	lung	GTEx
rs35708549	AC068282.3	cis	Muscle Skeletal	GTEx
rs35708549	AC068282.3	cis	Whole Blood	GTEx
rs35708549	MAP3K2	cis	multi-tissue	Pritchard
rs35708549	AC068282.3	cis	Thyroid	GTEx
rs35708549	AC068282.3	cis	Skin Sun Exposed Lower leg	GTEx
rs35708549	AC068282.3	cis	Artery Aorta	GTEx
rs35708549	AC068282.3	cis	Adipose Subcutaneous	GTEx
rs35708549	AC068282.3	cis	Heart Left Ventricle	GTEx
rs35708549	AC068282.3	cis	Nerve Tibial	GTEx
rs35708549	AC068282.3	cis	Esophagus Mucosa	GTEx
rs35708549	AC068282.3	cis	Artery Tibial	GTEx
rs35708549	AC068282.3	cis	Stomach	GTEx

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128146000-128158400	Weak transcription	Ovary	ovary
2	chr2:128146200-128148800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:128146200-128150600	Enhancers	Fetal Thymus	thymus
4	chr2:128146400-128149600	Weak transcription	NH-A	brain
5	chr2:128146400-128150400	Enhancers	Primary B cells from peripheral blood	blood
6	chr2:128146400-128150400	Weak transcription	Aorta	Aorta
7	chr2:128146400-128155200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:128146400-128165200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:128146600-128149000	Enhancers	Duodenum Mucosa	Duodenum
10	chr2:128146600-128149000	Enhancers	Fetal Intestine Large	intestine
11	chr2:128146600-128149600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:128146600-128149800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:128146600-128149800	Weak transcription	HSMM	muscle
14	chr2:128146600-128149800	Weak transcription	Osteobl	bone
15	chr2:128146600-128150000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:128146600-128150200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:128146600-128150200	Enhancers	K562	blood
18	chr2:128146600-128150600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:128146600-128150600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:128146600-128150800	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:128146600-128152000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:128146600-128152000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:128146600-128154200	Weak transcription	Brain Germinal Matrix	brain
24	chr2:128146600-128155000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:128146600-128155000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:128146600-128155200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:128146600-128155200	Weak transcription	Esophagus	oesophagus
28	chr2:128146600-128155400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:128146600-128155400	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:128146600-128155400	Weak transcription	Brain Substantia Nigra	brain
31	chr2:128146600-128155400	Weak transcription	Placenta	Placenta
32	chr2:128146600-128155400	Weak transcription	Spleen	Spleen
33	chr2:128146600-128155600	Weak transcription	Brain Anterior Caudate	brain
34	chr2:128146600-128155600	Weak transcription	Colonic Mucosa	Colon
35	chr2:128146600-128157200	Weak transcription	Fetal Stomach	stomach
36	chr2:128146600-128162600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:128146800-128149800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:128146800-128149800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:128146800-128149800	Enhancers	Primary B cells from cord blood	blood
40	chr2:128146800-128150200	Weak transcription	Hela-S3	cervix
41	chr2:128146800-128150200	Weak transcription	HMEC	breast
42	chr2:128146800-128150400	Weak transcription	HSMMtube	muscle
43	chr2:128146800-128151800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:128146800-128151800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:128146800-128158200	Weak transcription	Small Intestine	intestine
46	chr2:128147000-128149800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:128147000-128155000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:128147200-128149600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:128147400-128148800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr2:128147400-128149800	Weak transcription	A549	lung

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