Variant report

Variant	rs4344281
Chromosome Location	chr1:175135376-175135377
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	chr1:175133817..175136393-chr1:175137880..175140113,3	K562	blood:
2	chr1:175133817..175136820-chr1:175136859..175140006,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1014554	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1014555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1057239	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1057246	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10753091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912901	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11583687	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11585368	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12760073	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13373754	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13374887	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1883102	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894709	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2285216	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285219	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2285220	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2685	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34270511	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34370567	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4650716	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6664840	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs729675	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][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	nsv522101	chr1:175109517-175151183	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4344281	KIAA0040	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175120000-175139400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:175122200-175136600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:175124000-175140400	Weak transcription	Fetal Heart	heart
4	chr1:175124400-175138200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:175126800-175138200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:175126800-175141800	Strong transcription	Primary B cells from cord blood	blood
7	chr1:175126800-175148800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:175127000-175135600	Strong transcription	Duodenum Mucosa	Duodenum
9	chr1:175127000-175136200	Strong transcription	Thymus	Thymus
10	chr1:175127000-175136600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr1:175127000-175136600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:175127000-175148400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:175127200-175136200	Strong transcription	Fetal Thymus	thymus
14	chr1:175127200-175137800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:175127200-175139000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr1:175127200-175139000	Strong transcription	Placenta	Placenta
17	chr1:175127200-175139200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:175127200-175147800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:175127400-175137000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:175127400-175139200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr1:175127400-175144200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:175127400-175149400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr1:175127600-175136600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:175127600-175136800	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:175127600-175137200	Strong transcription	Pancreas	Pancrea
26	chr1:175127600-175137600	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:175127600-175137600	Strong transcription	Liver	Liver
28	chr1:175127600-175140600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:175127800-175136000	Strong transcription	Lung	lung
30	chr1:175127800-175136400	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:175127800-175139200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:175127800-175140200	Strong transcription	Spleen	Spleen
33	chr1:175128200-175137000	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr1:175128200-175138400	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:175128200-175140000	Strong transcription	Primary T cells from cord blood	blood
36	chr1:175128400-175136000	Strong transcription	Ovary	ovary
37	chr1:175128400-175136000	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:175128400-175138800	Strong transcription	GM12878-XiMat	blood
39	chr1:175128400-175139200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:175128600-175136600	Strong transcription	HMEC	breast
41	chr1:175128600-175136800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:175128600-175138400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:175129000-175135800	Strong transcription	Fetal Intestine Large	intestine
44	chr1:175129000-175136200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:175129000-175138000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:175129000-175138000	Strong transcription	NHEK	skin
47	chr1:175129200-175159600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:175129400-175136200	Strong transcription	Fetal Intestine Small	intestine
49	chr1:175130000-175136000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:175130200-175137000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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