Variant report

Variant	rs2292214
Chromosome Location	chr1:212900311-212900312
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212899078..212902510-chr1:212913251..212915180,3	K562	blood:
2	chr1:212899078..212902712-chr1:212913429..212916281,3	K562	blood:
3	chr1:212900071..212902059-chr1:212903736..212906563,3	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10127613	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1032963	0.83[EUR][1000 genomes]
rs1032964	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10779583	0.89[EUR][1000 genomes]
rs10863992	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10864002	0.88[EUR][1000 genomes]
rs11120005	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11120034	0.88[EUR][1000 genomes]
rs11120038	0.84[EUR][1000 genomes]
rs12133194	0.84[EUR][1000 genomes]
rs12239017	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12568552	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12744555	0.88[EUR][1000 genomes]
rs12757944	0.88[EUR][1000 genomes]
rs1507359	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs15702	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1580991	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1580992	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1605420	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1813705	0.91[EUR][1000 genomes]
rs1848243	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2884675	0.88[EUR][1000 genomes]
rs3738802	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3949369	0.88[EUR][1000 genomes]
rs4639827	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4951639	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6540766	0.91[EUR][1000 genomes]
rs6540767	0.88[EUR][1000 genomes]
rs6665489	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6670373	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6670869	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6678961	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6681851	0.84[EUR][1000 genomes]
rs6685864	0.84[EUR][1000 genomes]
rs6686145	0.84[EUR][1000 genomes]
rs6686164	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6689799	0.83[EUR][1000 genomes]
rs6694887	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6696870	0.84[EUR][1000 genomes]
rs6696908	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6700465	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6702544	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6703982	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7513199	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7513210	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7513734	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7513772	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7514070	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7522100	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7528303	0.88[EUR][1000 genomes]
rs7535608	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7538853	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7543603	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7547100	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7555930	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][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	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv549148	chr1:212876902-212962207	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2292214	FLVCR1-AS1	cis	Whole Blood	GTEx
rs2292214	FLVCR1-AS1	cis	Esophagus Muscularis	GTEx
rs2292214	NSL1	Cis_1M	lymphoblastoid	RTeQTL
rs2292214	LQK1	Cis_1M	lymphoblastoid	RTeQTL
rs2292214	FLVCR1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212895200-212922800	Weak transcription	Left Ventricle	heart
2	chr1:212895400-212901800	Weak transcription	Liver	Liver
3	chr1:212895400-212902000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:212895400-212902400	Weak transcription	Primary T cells from cord blood	blood
5	chr1:212895400-212906000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:212895400-212906600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:212895400-212912000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr1:212895400-212914600	Weak transcription	Spleen	Spleen
9	chr1:212895400-212916600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:212895400-212917400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:212895400-212923200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:212895400-212923400	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:212895400-212923400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:212895400-212926400	Weak transcription	Esophagus	oesophagus
15	chr1:212895400-212964600	Weak transcription	Pancreas	Pancrea
16	chr1:212895600-212900400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:212895600-212900400	Weak transcription	Osteobl	bone
18	chr1:212895600-212900600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:212895600-212900600	Weak transcription	NH-A	brain
20	chr1:212895600-212901000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:212895600-212904000	Weak transcription	GM12878-XiMat	blood
22	chr1:212895600-212905600	Weak transcription	Lung	lung
23	chr1:212895600-212923000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:212895600-212923400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:212895600-212964600	Weak transcription	Gastric	stomach
26	chr1:212895800-212900600	Weak transcription	NHDF-Ad	bronchial
27	chr1:212895800-212901400	Weak transcription	Stomach Mucosa	stomach
28	chr1:212895800-212911200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:212895800-212917400	Weak transcription	NHLF	lung
30	chr1:212895800-212925600	Weak transcription	Small Intestine	intestine
31	chr1:212895800-212926200	Weak transcription	Hela-S3	cervix
32	chr1:212896000-212900800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:212896000-212911800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:212896000-212917000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:212896200-212900400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:212896200-212901400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr1:212896200-212902200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:212896200-212906000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr1:212896200-212908200	Weak transcription	K562	blood
40	chr1:212896200-212912200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:212896400-212906000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr1:212896400-212917000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr1:212896800-212909000	Weak transcription	Primary B cells from cord blood	blood
44	chr1:212897200-212900600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:212897400-212900400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:212897400-212914600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:212897800-212911600	Weak transcription	Brain Germinal Matrix	brain
48	chr1:212898400-212909600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:212898600-212903800	Weak transcription	Adipose Nuclei	Adipose
50	chr1:212898600-212923200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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