Variant report

Variant	rs6704144
Chromosome Location	chr1:227201030-227201031
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227197069..227199445-chr1:227199519..227201272,2	K562	blood:
2	chr1:227192966..227196885-chr1:227199630..227203259,4	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1045252	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap]
rs1045285	0.96[CEU][hapmap];0.87[GIH][hapmap];0.80[LWK][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1045286	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1045287	0.96[CEU][hapmap];0.94[GIH][hapmap];0.87[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1045289	0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1045290	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10495273	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10916075	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11577007	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11578103	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11578479	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11580229	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11586604	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11587443	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11588904	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11589344	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1186	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12403236	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12406714	0.86[AMR][1000 genomes]
rs12409230	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12409428	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12409755	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12410103	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12593	0.92[CEU][hapmap];0.81[GIH][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1343743	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1343744	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17528667	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17592479	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17600627	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17600669	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17600725	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1929862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1929863	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1929864	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2104860	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2183836	0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2297412	0.91[CEU][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2297415	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2297416	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2297418	0.92[CEU][hapmap];0.94[GIH][hapmap];0.86[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3738725	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.84[MKK][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3738729	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3768419	0.87[LWK][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap];0.84[YRI][hapmap];0.83[AMR][1000 genomes]
rs3768421	0.86[AMR][1000 genomes]
rs3768423	0.86[AMR][1000 genomes]
rs3768424	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3768425	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3795445	0.86[LWK][hapmap];0.89[MKK][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs3795446	0.87[LWK][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs3795449	0.96[CEU][hapmap];0.94[GIH][hapmap];0.86[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3795451	0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3795453	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61834001	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61834004	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61834005	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61834006	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6426558	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6426559	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6659424	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6664955	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6670924	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6677602	0.88[CEU][hapmap]
rs6684821	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6690803	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6693535	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6699400	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68087483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7520272	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7535826	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7541033	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7549465	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7549586	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7552783	0.96[ASN][1000 genomes]
rs9726097	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9727512	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1005811	chr1:227196502-227215967	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1007352	chr1:227196502-227247160	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv997751	chr1:227196502-227263537	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1011654	chr1:227196502-227308416	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1010864	chr1:227199493-227246753	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6704144	ADCK3	cis	Whole Blood	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
2	chr1:227175200-227210200	Weak transcription	HMEC	breast
3	chr1:227175600-227216200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:227176000-227216400	Weak transcription	NHLF	lung
5	chr1:227177400-227255200	Weak transcription	Small Intestine	intestine
6	chr1:227178400-227271200	Weak transcription	Psoas Muscle	Psoas
7	chr1:227178600-227206600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:227178600-227226200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:227179400-227204400	Weak transcription	Stomach Mucosa	stomach
10	chr1:227179400-227215000	Weak transcription	Placenta	Placenta
11	chr1:227179600-227213800	Weak transcription	NH-A	brain
12	chr1:227182000-227216000	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:227182200-227205600	Weak transcription	Fetal Brain Male	brain
14	chr1:227182600-227206400	Weak transcription	Brain Germinal Matrix	brain
15	chr1:227182800-227224200	Weak transcription	Spleen	Spleen
16	chr1:227183200-227202600	Weak transcription	Pancreas	Pancrea
17	chr1:227183200-227228200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:227183200-227240400	Weak transcription	Colonic Mucosa	Colon
19	chr1:227183600-227204600	Weak transcription	HepG2	liver
20	chr1:227183800-227203000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:227184000-227203200	Weak transcription	Brain Substantia Nigra	brain
22	chr1:227184000-227204200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:227184000-227214600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:227184000-227234000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:227184200-227206600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:227184600-227208000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:227187200-227218600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:227189200-227207400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:227190600-227202600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:227190600-227206600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:227190600-227217000	Weak transcription	Esophagus	oesophagus
32	chr1:227190600-227223200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:227190600-227272600	Weak transcription	Lung	lung
34	chr1:227191200-227202600	Weak transcription	Fetal Intestine Small	intestine
35	chr1:227191200-227208200	Weak transcription	NHEK	skin
36	chr1:227191200-227214400	Weak transcription	Aorta	Aorta
37	chr1:227191400-227204000	Weak transcription	NHDF-Ad	bronchial
38	chr1:227191600-227206600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:227191800-227206400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:227192200-227207000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:227192400-227206600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:227192600-227204200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:227192600-227206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:227192600-227220200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:227192800-227202600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:227192800-227202600	Weak transcription	Adipose Nuclei	Adipose
47	chr1:227192800-227202600	Weak transcription	Brain Angular Gyrus	brain
48	chr1:227192800-227202600	Weak transcription	Left Ventricle	heart
49	chr1:227192800-227203000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr1:227192800-227203000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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