Variant report

Variant	rs6703982
Chromosome Location	chr1:212894865-212894866
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	chr1:212883928..212885443-chr1:212893940..212896251,2	K562	blood:
2	chr1:212836810..212838698-chr1:212893366..212895753,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10127613	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1032964	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10779582	0.96[ASN][1000 genomes]
rs10779583	0.84[EUR][1000 genomes]
rs10863992	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10864002	0.83[EUR][1000 genomes]
rs11120005	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120034	0.83[EUR][1000 genomes]
rs12239017	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12568552	0.87[EUR][1000 genomes]
rs12744555	0.83[EUR][1000 genomes]
rs12757944	0.83[EUR][1000 genomes]
rs1507359	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs15702	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1580991	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1580992	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1605420	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1813705	0.85[EUR][1000 genomes]
rs1848243	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2292214	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2884675	0.83[EUR][1000 genomes]
rs3738802	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs3949369	0.83[EUR][1000 genomes]
rs4548508	0.97[ASN][1000 genomes]
rs4639827	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4951458	0.97[ASN][1000 genomes]
rs4951639	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6540754	0.84[ASN][1000 genomes]
rs6540766	0.85[EUR][1000 genomes]
rs6540767	0.83[EUR][1000 genomes]
rs6665489	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670869	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6678961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686164	0.87[EUR][1000 genomes]
rs6688947	0.97[ASN][1000 genomes]
rs6694887	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6696908	0.86[AMR][1000 genomes]
rs6700465	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6702544	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7513199	0.89[EUR][1000 genomes]
rs7513210	0.89[EUR][1000 genomes]
rs7513734	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7513772	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7514070	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7522100	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7528303	0.83[EUR][1000 genomes]
rs7535608	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7538853	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7543603	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7547100	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7555930	0.86[EUR][1000 genomes]
rs9651103	0.93[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
rs6703982	FLVCR1-AS1	cis	Esophagus Muscularis	GTEx
rs6703982	NSL1	Cis_1M	lymphoblastoid	RTeQTL
rs6703982	FLVCR1-AS1	cis	Whole Blood	GTEx
rs6703982	LQK1	Cis_1M	lymphoblastoid	RTeQTL
rs6703982	FLVCR1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212894400-212895000	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr1:212894400-212897200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr1:212894600-212895000	Enhancers	Colonic Mucosa	Colon
4	chr1:212894600-212895200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:212894600-212895200	Flanking Active TSS	GM12878-XiMat	blood
6	chr1:212894600-212895200	Flanking Active TSS	NHEK	skin
7	chr1:212894600-212895400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:212894600-212895400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr1:212894600-212895400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:212894600-212895400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:212894600-212895400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:212894600-212895400	Enhancers	Placenta	Placenta
13	chr1:212894600-212895400	Flanking Active TSS	HepG2	liver
14	chr1:212894600-212895400	Flanking Active TSS	Osteobl	bone
15	chr1:212894600-212895600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:212894600-212895600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:212894600-212895600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:212894600-212895600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:212894600-212895600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:212894600-212895600	Enhancers	Lung	lung
21	chr1:212894600-212895600	Enhancers	HSMM	muscle
22	chr1:212894600-212895600	Enhancers	NH-A	brain
23	chr1:212894600-212895800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:212894600-212895800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr1:212894600-212895800	Flanking Active TSS	A549	lung
26	chr1:212894600-212895800	Enhancers	Hela-S3	cervix
27	chr1:212894600-212895800	Enhancers	NHDF-Ad	bronchial
28	chr1:212894600-212896000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:212894600-212896200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:212894600-212896200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:212894600-212896400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr1:212894600-212896400	Enhancers	HUVEC	blood vessel
33	chr1:212894600-212897200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:212894600-212897200	Enhancers	Dnd41	blood
35	chr1:212894800-212895000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:212894800-212895000	Enhancers	K562	blood
37	chr1:212894800-212895400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:212894800-212895400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr1:212894800-212895600	Enhancers	Duodenum Mucosa	Duodenum
40	chr1:212894800-212895600	Enhancers	HMEC	breast
41	chr1:212894800-212895800	Enhancers	Stomach Mucosa	stomach
42	chr1:212894800-212895800	Enhancers	NHLF	lung
43	chr1:212894800-212896000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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