Variant report

Variant	rs626596
Chromosome Location	chr11:100777290-100777291
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11224533	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11224538	0.87[YRI][hapmap]
rs1217265	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs579847	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs581468	0.88[ASW][hapmap]
rs581921	1.00[YRI][hapmap]
rs585288	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs594062	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs610055	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs622957	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs623600	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs641582	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6590829	0.80[MKK][hapmap]
rs6590834	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs672030	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs672593	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs675395	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7122917	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7939762	1.00[ASW][hapmap];0.96[CEU][hapmap];0.94[GIH][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7939782	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7950832	1.00[ASW][hapmap];0.96[CEU][hapmap];0.94[GIH][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.89[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	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100758400-100798400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:100758600-100795200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:100758800-100789400	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:100758800-100791200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr11:100761600-100777400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:100761600-100788800	Weak transcription	Fetal Heart	heart
7	chr11:100762800-100779000	Weak transcription	NH-A	brain
8	chr11:100770400-100789800	Weak transcription	Fetal Stomach	stomach
9	chr11:100771200-100784600	Weak transcription	Fetal Intestine Small	intestine
10	chr11:100772000-100831400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr11:100773800-100779000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:100773800-100789600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:100773800-100789800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:100773800-100809800	Weak transcription	Left Ventricle	heart
15	chr11:100774400-100785200	Weak transcription	Liver	Liver
16	chr11:100774600-100779400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:100774800-100812800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:100776000-100794000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:100776600-100777800	Enhancers	Adipose Nuclei	Adipose
20	chr11:100776800-100779600	Weak transcription	Psoas Muscle	Psoas
21	chr11:100776800-100789600	Weak transcription	Gastric	stomach
22	chr11:100777000-100780800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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