Variant report

Variant	rs1014357
Chromosome Location	chr11:36190543-36190544
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10836514	0.87[ASN][1000 genomes]
rs11033476	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11499817	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12269916	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[MEX][hapmap];0.87[ASN][1000 genomes]
rs12278757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417496	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[MEX][hapmap];0.87[ASN][1000 genomes]
rs12417511	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12420381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12575549	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12576371	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16926221	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4612777	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4755439	0.84[CHD][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs4756291	1.00[ASN][1000 genomes]
rs4756292	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55659003	0.92[ASN][1000 genomes]
rs59459290	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6416082	1.00[ASN][1000 genomes]
rs6416083	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117510	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs7121939	0.98[ASN][1000 genomes]
rs72935599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72935601	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929112	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7933303	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7943467	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7943612	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897225	chr11:36136912-36244190	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36179600-36193000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:36184400-36220000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:36184800-36206200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:36185200-36192200	Weak transcription	Fetal Intestine Small	intestine
5	chr11:36185200-36203600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:36185200-36207800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:36186000-36191000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:36186400-36199800	Weak transcription	HSMMtube	muscle
9	chr11:36186400-36207600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:36186600-36196800	Weak transcription	NHEK	skin
11	chr11:36186600-36206000	Weak transcription	HSMM	muscle
12	chr11:36187200-36192200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:36187800-36196800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:36187800-36197200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:36188000-36190800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:36188000-36192800	Weak transcription	Fetal Lung	lung
17	chr11:36188000-36192800	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:36188000-36213600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:36188200-36190600	Weak transcription	Fetal Heart	heart
20	chr11:36188200-36193200	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:36188600-36193200	Weak transcription	Fetal Kidney	kidney
22	chr11:36189400-36203000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:36189600-36192400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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