Variant report

Variant	rs612046
Chromosome Location	chr11:100837804-100837805
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10488785	0.87[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11224506	0.84[EUR][1000 genomes]
rs11224510	0.85[EUR][1000 genomes]
rs1940225	0.82[EUR][1000 genomes]
rs2034017	0.85[EUR][1000 genomes]
rs2509107	1.00[CEU][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs471933	0.87[CEU][hapmap]
rs4754707	0.85[EUR][1000 genomes]
rs4754715	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs524811	0.86[AFR][1000 genomes]
rs535747	0.85[CEU][hapmap]
rs561268	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs581921	0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs629813	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs634636	0.88[CEU][hapmap];0.96[CHB][hapmap];0.82[JPT][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs651301	0.94[CEU][hapmap];0.83[CHB][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs664212	0.93[CEU][hapmap];0.86[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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100785400-100838400	Weak transcription	Fetal Intestine Small	intestine
2	chr11:100800200-100846600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:100807800-100844600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:100808000-100846600	Weak transcription	Ovary	ovary
5	chr11:100810000-100852200	Weak transcription	Small Intestine	intestine
6	chr11:100810400-100845000	Weak transcription	Primary B cells from cord blood	blood
7	chr11:100810600-100848400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:100812000-100841000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:100813000-100848600	Weak transcription	A549	lung
10	chr11:100813200-100838800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:100813200-100841400	Weak transcription	Fetal Stomach	stomach
12	chr11:100813200-100846600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr11:100820400-100841400	Weak transcription	Right Ventricle	heart
14	chr11:100820400-100847000	Weak transcription	Fetal Kidney	kidney
15	chr11:100827200-100840200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:100827400-100846600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:100828400-100845400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:100828600-100846400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:100828800-100849400	Weak transcription	NHLF	lung
20	chr11:100829000-100849400	Weak transcription	HMEC	breast
21	chr11:100829200-100846800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:100829600-100841400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:100829600-100849400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:100830000-100847600	Weak transcription	Psoas Muscle	Psoas
25	chr11:100830200-100838000	Strong transcription	Placenta	Placenta
26	chr11:100830400-100839000	Strong transcription	Liver	Liver
27	chr11:100830600-100858200	Weak transcription	Colonic Mucosa	Colon
28	chr11:100832200-100849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:100833000-100839800	Weak transcription	Brain Anterior Caudate	brain
30	chr11:100834000-100847400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr11:100834200-100839800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:100834200-100842800	Weak transcription	HSMM	muscle
33	chr11:100834400-100840400	Weak transcription	NH-A	brain
34	chr11:100834400-100844600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:100834400-100847000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:100834400-100847200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:100834400-100851600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:100834600-100839800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:100834800-100847200	Weak transcription	Stomach Mucosa	stomach
40	chr11:100835400-100838000	Strong transcription	Adipose Nuclei	Adipose
41	chr11:100835400-100838600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:100835400-100845200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:100835600-100840800	Weak transcription	Fetal Heart	heart
44	chr11:100835600-100846600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:100835800-100839400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr11:100835800-100846600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:100836200-100838600	Weak transcription	Fetal Intestine Large	intestine
48	chr11:100836200-100839800	Weak transcription	Fetal Lung	lung
49	chr11:100836400-100838200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr11:100836400-100838400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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