Variant report

Variant	rs17003427
Chromosome Location	chr4:79642417-79642418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:79639723..79644751-chr4:79695809..79700449,7	K562	blood:
2	chr4:79632417..79635244-chr4:79639660..79644027,4	K562	blood:
3	chr4:79567313..79569878-chr4:79640886..79643342,2	K562	blood:
4	chr4:79641529..79646816-chr4:79652433..79657132,8	K562	blood:
5	chr4:79640304..79643611-chr4:79647879..79654272,6	K562	blood:
6	chr4:79641143..79642913-chr4:79661983..79663939,2	K562	blood:
7	chr4:79641293..79643871-chr4:79697074..79700036,2	K562	blood:
8	chr4:79612194..79614576-chr4:79640303..79644240,5	K562	blood:
9	chr4:79612194..79615072-chr4:79639914..79642842,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260278	Chromatin interaction
ENSG00000251442	Chromatin interaction
ENSG00000138756	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10005471	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs10010709	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap]
rs10213354	0.83[ASN][1000 genomes]
rs10518201	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10518202	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10518205	0.87[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.88[TSI][hapmap]
rs10518206	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs10518208	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs10518209	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs11728572	0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11729862	0.87[EUR][1000 genomes]
rs12641797	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12643807	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs12644278	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12644502	1.00[CEU][hapmap];0.92[CHB][hapmap]
rs12644685	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap]
rs12645310	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs12647482	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs12647524	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap]
rs12647653	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs12648219	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12648396	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12649750	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap]
rs12649978	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap]
rs12650337	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap]
rs1426137	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs1426139	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs1564458	0.94[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap]
rs16997408	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap]
rs17003443	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17003450	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];0.84[JPT][hapmap];0.90[TSI][hapmap];0.83[ASN][1000 genomes]
rs17003451	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17003453	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs17003454	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs17003464	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap]
rs17003465	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs17003472	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs17003478	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap]
rs17003479	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap]
rs17003488	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap]
rs17003489	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap]
rs17003492	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap]
rs17003499	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap]
rs17003500	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs17003503	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs17003504	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap]
rs17008951	1.00[CEU][hapmap];0.94[CHB][hapmap]
rs1834517	0.83[ASN][1000 genomes]
rs1972691	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1978552	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2033060	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap]
rs2114203	0.85[ASN][1000 genomes]
rs2162228	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs2288255	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap]
rs2291181	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs28499303	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28515480	0.85[ASN][1000 genomes]
rs28579738	0.85[ASN][1000 genomes]
rs28587143	0.85[ASN][1000 genomes]
rs28621590	0.85[ASN][1000 genomes]
rs2903591	0.83[ASN][1000 genomes]
rs35741786	0.85[ASN][1000 genomes]
rs3775513	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs3775514	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap]
rs3775515	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs3775516	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.83[ASN][1000 genomes]
rs3775518	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.85[ASN][1000 genomes]
rs3775519	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3775522	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3775525	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.85[ASN][1000 genomes]
rs3796681	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap]
rs3796682	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs3811766	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap]
rs3822107	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap]
rs3822108	0.85[ASN][1000 genomes]
rs41418051	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4432766	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4550959	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs57011679	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57574345	0.85[ASN][1000 genomes]
rs57707267	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58309391	0.81[EUR][1000 genomes]
rs58634945	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59030520	0.83[ASN][1000 genomes]
rs59994556	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60981779	0.83[ASN][1000 genomes]
rs61470194	0.81[ASN][1000 genomes]
rs62308350	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62308353	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62308358	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62310760	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62310763	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62310789	0.85[ASN][1000 genomes]
rs62310790	0.85[ASN][1000 genomes]
rs62310793	0.85[ASN][1000 genomes]
rs62310795	0.85[ASN][1000 genomes]
rs62310796	0.84[ASN][1000 genomes]
rs62310800	0.85[ASN][1000 genomes]
rs62310803	0.85[ASN][1000 genomes]
rs62310804	0.85[ASN][1000 genomes]
rs62310806	0.83[ASN][1000 genomes]
rs62310809	0.82[ASN][1000 genomes]
rs62310810	0.83[ASN][1000 genomes]
rs6534005	0.94[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.83[ASN][1000 genomes]
rs6814884	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6828501	0.83[ASN][1000 genomes]
rs6830661	1.00[CEU][hapmap]
rs6838118	0.85[ASN][1000 genomes]
rs6839280	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6843114	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap]
rs6845695	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs6850116	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.89[TSI][hapmap]
rs6857679	1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs727760	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs727761	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7439893	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7662194	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7671578	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs7681426	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs7682144	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs7691065	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap]
rs7691825	1.00[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap]
rs7692418	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.80[GIH][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap]
rs7692450	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs7696247	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap]
rs9992277	0.92[EUR][1000 genomes];0.90[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	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17003427	ANXA3	cis	multi-tissue	Pritchard

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79641000-79644600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr4:79641200-79642600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr4:79641200-79642600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:79641200-79642600	Enhancers	Right Atrium	heart
5	chr4:79641200-79642800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:79641200-79642800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:79641200-79643600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr4:79641200-79643800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr4:79641200-79644000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr4:79641200-79644000	Enhancers	Primary B cells from peripheral blood	blood
11	chr4:79641200-79644600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:79641400-79642600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr4:79641400-79642800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr4:79641400-79642800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr4:79641400-79642800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr4:79641400-79643000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:79641400-79643000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr4:79641400-79643800	Enhancers	Fetal Heart	heart
19	chr4:79641600-79642600	Weak transcription	Brain Anterior Caudate	brain
20	chr4:79641600-79643600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:79641800-79642600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr4:79641800-79642800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:79641800-79643000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:79641800-79645600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:79642000-79642600	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr4:79642000-79642600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr4:79642000-79642800	Flanking Active TSS	GM12878-XiMat	blood
28	chr4:79642000-79643000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:79642000-79643200	Weak transcription	Brain Substantia Nigra	brain
30	chr4:79642000-79643200	Enhancers	Fetal Lung	lung
31	chr4:79642000-79643200	Enhancers	Fetal Thymus	thymus
32	chr4:79642200-79642600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr4:79642200-79642600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr4:79642200-79642600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr4:79642200-79642600	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr4:79642200-79642600	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr4:79642200-79642600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr4:79642200-79642600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr4:79642200-79642600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:79642200-79642600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:79642200-79642600	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr4:79642200-79642800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr4:79642200-79642800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr4:79642200-79642800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr4:79642200-79642800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:79642200-79642800	Flanking Active TSS	HepG2	liver
47	chr4:79642200-79642800	Flanking Active TSS	HUVEC	blood vessel
48	chr4:79642200-79643000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr4:79642200-79643000	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr4:79642200-79643000	Enhancers	Adipose Nuclei	Adipose

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