Variant report

Variant	rs6457799
Chromosome Location	chr6:34960744-34960745
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34960537..34962092-chr6:34983517..34986049,2	K562	blood:
2	chr6:34956071..34958018-chr6:34959188..34960981,2	K562	blood:
3	chr6:34952785..34956692-chr6:34957031..34961884,7	K562	blood:
4	chr6:34944718..34946235-chr6:34960421..34962888,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10807143	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10947533	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10947534	0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10947535	0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10947536	0.82[MEX][hapmap]
rs11755713	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16895035	0.93[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap]
rs16895354	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1737724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2030611	0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2140418	0.89[ASW][hapmap];0.81[LWK][hapmap];0.82[MEX][hapmap]
rs2177381	0.82[MEX][hapmap]
rs2293242	0.82[MEX][hapmap]
rs2395601	0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2395602	0.87[ASN][1000 genomes]
rs3734258	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3734259	0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs3756859	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs3777750	0.80[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap]
rs3800443	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3800448	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs3800450	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3800452	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3800453	0.93[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap]
rs3822923	1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap]
rs56140217	0.81[ASN][1000 genomes]
rs56248791	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6913108	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs6918498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs6941065	1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.90[YRI][hapmap]
rs7740148	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7751820	0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7752468	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs847844	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs847845	0.94[ASW][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.93[YRI][hapmap];0.82[ASN][1000 genomes]
rs847848	0.82[MEX][hapmap]
rs847861	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[ASN][1000 genomes]
rs847862	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap]
rs861878	0.83[EUR][1000 genomes]
rs9380465	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9380466	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs9380467	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs9380468	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9380470	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs9380476	1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs9380480	0.83[ASN][1000 genomes]
rs9380481	0.92[ASN][1000 genomes]
rs9784889	0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv5257	chr6:34925313-34970101	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6457799	ANKS1A	cis	normal skin	skin_eQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34925600-34984800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:34926800-34992200	Weak transcription	Small Intestine	intestine
3	chr6:34929400-34963400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:34932400-34981800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr6:34932800-34962400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:34939400-34978200	Weak transcription	Psoas Muscle	Psoas
7	chr6:34939400-35016000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:34944600-34967200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr6:34945200-34962200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:34945200-34967200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr6:34947800-34967000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:34948200-34963600	Strong transcription	Fetal Intestine Large	intestine
13	chr6:34948600-34967200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:34948800-34963600	Strong transcription	Primary T cells from cord blood	blood
15	chr6:34948800-34963600	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr6:34948800-34964200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr6:34949200-34963200	Strong transcription	Fetal Thymus	thymus
18	chr6:34949200-34963400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:34949200-34963600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr6:34949400-34962800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr6:34949400-34963600	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr6:34949800-34966800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:34950000-34963200	Strong transcription	Primary B cells from cord blood	blood
24	chr6:34950600-34964200	Strong transcription	Primary hematopoietic stem cells	blood
25	chr6:34951400-34961400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:34951800-34963600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:34953200-34961000	Weak transcription	Brain Germinal Matrix	brain
28	chr6:34953200-34963400	Weak transcription	GM12878-XiMat	blood
29	chr6:34954600-34962000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr6:34954800-34962200	Weak transcription	A549	lung
31	chr6:34955000-34962800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr6:34955000-34973600	Weak transcription	Stomach Mucosa	stomach
33	chr6:34955200-34964600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:34955400-34964000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:34955400-34967600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr6:34955400-34967600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr6:34955600-34964400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr6:34955600-34969600	Weak transcription	Fetal Heart	heart
39	chr6:34956600-34963000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr6:34956600-34963000	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr6:34956600-34963600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:34956800-34963000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr6:34956800-34963600	Strong transcription	Liver	Liver
44	chr6:34956800-34963600	Strong transcription	Placenta	Placenta
45	chr6:34956800-34967000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:34957000-34962400	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr6:34957000-34963000	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr6:34957000-34963200	Strong transcription	Dnd41	blood
49	chr6:34957000-34963600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:34957000-34963600	Strong transcription	HepG2	liver

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