Variant report

Variant	rs11810399
Chromosome Location	chr1:184413134-184413135
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184412654..184414882-chr1:184428797..184431309,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10157833	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10158710	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10489721	1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs10489722	1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs10752935	0.93[CHB][hapmap]
rs10797966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911593	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs11802306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11805001	1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs11811039	0.88[ASN][1000 genomes]
rs12048492	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs12057850	0.93[ASN][1000 genomes]
rs12058294	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12063210	0.86[ASN][1000 genomes]
rs12093839	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12117332	0.88[EUR][1000 genomes]
rs12117823	0.80[CEU][hapmap]
rs12127697	0.80[CEU][hapmap]
rs1535135	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16823149	1.00[CHB][hapmap];0.81[JPT][hapmap];0.93[ASN][1000 genomes]
rs16823197	0.80[CEU][hapmap]
rs1969686	0.90[ASN][1000 genomes]
rs2207522	0.96[ASN][1000 genomes]
rs2207527	0.80[CEU][hapmap]
rs3916684	0.88[ASN][1000 genomes]
rs3930803	0.93[ASN][1000 genomes]
rs4233119	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs4518858	0.93[CHB][hapmap]
rs4631655	1.00[CEU][hapmap]
rs57024489	0.86[ASN][1000 genomes]
rs57790643	0.86[ASN][1000 genomes]
rs58462114	0.90[ASN][1000 genomes]
rs59369289	0.86[ASN][1000 genomes]
rs61823506	0.90[ASN][1000 genomes]
rs61823538	0.90[ASN][1000 genomes]
rs61823539	0.90[ASN][1000 genomes]
rs61823542	0.93[ASN][1000 genomes]
rs61823543	1.00[ASN][1000 genomes]
rs61823546	0.86[ASN][1000 genomes]
rs6424948	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs6424949	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs6656089	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6657105	0.88[ASN][1000 genomes]
rs6657254	0.94[ASN][1000 genomes]
rs6666696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6678278	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6691784	0.90[EUR][1000 genomes]
rs6693408	0.80[CEU][hapmap]
rs6696161	0.93[CHB][hapmap]
rs6700709	0.90[EUR][1000 genomes]
rs72735678	0.93[ASN][1000 genomes]
rs7513091	0.80[CEU][hapmap]
rs7522628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7537725	0.96[ASN][1000 genomes]
rs7540361	0.96[ASN][1000 genomes]
rs7548074	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184390600-184422400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:184396200-184418800	Weak transcription	NHEK	skin
3	chr1:184396200-184419000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:184396400-184430000	Weak transcription	Spleen	Spleen
5	chr1:184398800-184418800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:184402600-184417400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:184403000-184423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:184406000-184422200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:184407800-184419000	Weak transcription	Right Ventricle	heart
10	chr1:184408600-184421200	Weak transcription	Stomach Mucosa	stomach
11	chr1:184410600-184422000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:184411200-184413200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:184411200-184413200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:184411400-184413200	Enhancers	Fetal Heart	heart
15	chr1:184412000-184413200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr1:184412000-184414400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:184412400-184413200	Enhancers	Right Atrium	heart
18	chr1:184412800-184413200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:184412800-184413200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:184412800-184413200	Enhancers	Aorta	Aorta
21	chr1:184412800-184413200	Genic enhancers	Fetal Stomach	stomach
22	chr1:184412800-184413200	Enhancers	Left Ventricle	heart
23	chr1:184412800-184413800	Enhancers	Psoas Muscle	Psoas
24	chr1:184412800-184430200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:184413000-184414000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:184413000-184420800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:184413000-184426600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:184413000-184429600	Weak transcription	Brain Angular Gyrus	brain

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