Variant report

Variant	rs1022337
Chromosome Location	chr2:183906786-183906787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:183906765-183906815	HPAEpiC	pulmonary alveolar:	n/a
2	chr2:183906765-183906815	HL-60	blood:	n/a
3	chr2:183906765-183906815	PrEC	prostate:	n/a
4	chr2:183906765-183906815	HNPCEpiC	eye:	n/a
5	chr2:183906765-183906815	ProgFib	skin:	n/a
6	chr2:183906765-183906815	HAEpiC	amniotic membrane:	n/a
7	chr2:183906765-183906815	AG10803	skin:	n/a
8	chr2:183906765-183906815	BJ	skin:	n/a
9	chr2:183906765-183906815	HRE	kidney:	n/a
10	chr2:183906765-183906815	NHBE	bronchial:	n/a
11	chr2:183906765-183906815	IMR90	lung:	fetal
12	chr2:183906765-183906815	Jurkat	blood:	n/a
13	chr2:183906765-183906815	HepG2	liver:	n/a
14	chr2:183906765-183906815	CMK	blood:	n/a
15	chr2:183906765-183906815	SAEC	small airway:	n/a
16	chr2:183906765-183906815	MCF10A-Er-Src	breast:	n/a
17	chr2:183906765-183906815	HCT-116	colon:	n/a
18	chr2:183906765-183906815	Hela-S3	cervix:	n/a
19	chr2:183906765-183906815	GM19239	blood:	n/a
20	chr2:183906765-183906815	HCF	heart:	n/a
21	chr2:183906765-183906815	Caco-2	colon:	n/a
22	chr2:183906765-183906815	SK-N-MC	brain:	n/a
23	chr2:183906765-183906815	AG09319	gingival:	n/a
24	chr2:183906765-183906815	AG04449	skin:	fetal
25	chr2:183906765-183906815	NH-A	brain:	n/a
26	chr2:183906765-183906815	AG04450	lung:	fetal
27	chr2:183906765-183906815	HRPEpiC	eye:	n/a
28	chr2:183906765-183906815	HEK293	kidney:	embryo
29	chr2:183906765-183906815	K562	blood:	n/a
30	chr2:183906765-183906815	SK-N-SH	brain:	n/a
31	chr2:183906765-183906815	ECC-1	luminal epithelium:	n/a
32	chr2:183906765-183906815	NT2-D1	testis:	n/a
33	chr2:183906765-183906815	GM06990	blood:	n/a
34	chr2:183906765-183906815	HRCEpiC	kidney:	n/a
35	chr2:183906765-183906815	H1-hESC	embryonic stem cell:	embryo
36	chr2:183906765-183906815	PANC-1	pancreas:	n/a
37	chr2:183906765-183906815	T-47D	breast:	n/a
38	chr2:183906765-183906815	HMEC	breast:	n/a
39	chr2:183906765-183906815	NHDF-neo	bronchial:	n/a
40	chr2:183906765-183906815	GM12878	blood:	n/a
41	chr2:183906765-183906815	GM12892	blood:	n/a
42	chr2:183906765-183906815	HCM	heart:	n/a
43	chr2:183906765-183906815	RPTEC	kidney:	n/a
44	chr2:183906765-183906815	GM12891	blood:	n/a
45	chr2:183906765-183906815	A549	lung:	n/a
46	chr2:183906765-183906815	SK-N-SH_RA	brain:	n/a
47	chr2:183906765-183906815	HCPEpiC	choroid plexus:	n/a
48	chr2:183906765-183906815	HUVEC	blood vessel:	n/a
49	chr2:183906765-183906815	SKMC	muscle:	n/a
50	chr2:183906765-183906815	PFSK-1	brain:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:183905950..183907846-chr2:183988121..183991149,3	K562	blood:
2	chr2:183905500..183908183-chr2:183941419..183944419,3	K562	blood:
3	chr2:183906719..183908567-chr2:183922990..183925300,2	K562	blood:

No data

Variant related genes	Relation type
NCKAP1	CpG island
ENSG00000162999	Chromatin interaction
ENSG00000163002	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10177344	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs10187158	0.91[AFR][1000 genomes]
rs10187684	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10187800	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs10204853	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10497617	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10497618	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs10931052	0.94[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs10931053	0.94[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs10931055	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11899644	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12470377	0.88[EUR][1000 genomes]
rs12611998	1.00[JPT][hapmap]
rs12612383	1.00[JPT][hapmap]
rs12617567	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12991342	0.91[ASN][1000 genomes]
rs12992669	1.00[JPT][hapmap]
rs12994001	1.00[JPT][hapmap]
rs13009031	1.00[JPT][hapmap]
rs13385317	0.91[AFR][1000 genomes]
rs13399354	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs13409111	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1400130	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16823896	1.00[JPT][hapmap]
rs16823906	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16823936	1.00[JPT][hapmap]
rs2138486	0.82[JPT][hapmap]
rs2271671	0.91[AFR][1000 genomes]
rs2368351	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2368352	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs2675048	0.87[ASN][1000 genomes]
rs2675049	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2675051	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2675076	0.87[ASN][1000 genomes]
rs2705741	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2705748	0.87[ASN][1000 genomes]
rs28429165	0.86[AFR][1000 genomes]
rs28832369	0.90[AFR][1000 genomes]
rs3791246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4341895	0.88[EUR][1000 genomes]
rs4392211	0.88[EUR][1000 genomes]
rs4414644	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs4427983	0.90[AFR][1000 genomes]
rs4666603	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666873	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4666876	1.00[JPT][hapmap]
rs60326110	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60543070	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62190103	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62190104	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6434000	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6434001	0.90[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6714190	1.00[JPT][hapmap]
rs6718462	1.00[JPT][hapmap]
rs6726085	1.00[JPT][hapmap]
rs6730114	0.91[EUR][1000 genomes]
rs6730183	1.00[JPT][hapmap]
rs6732015	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs6735144	0.91[EUR][1000 genomes]
rs6735651	1.00[JPT][hapmap]
rs6745341	1.00[JPT][hapmap]
rs67966058	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7510	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7562515	0.82[AFR][1000 genomes]
rs7566668	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7589630	1.00[JPT][hapmap]
rs7597884	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7605639	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9288088	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9333279	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs9333280	0.94[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs9789450	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183904400-183921600	Weak transcription	K562	blood

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