Variant report

Variant	rs2276103
Chromosome Location	chr11:87013252-87013253
allele	C/T
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:9)

rs_ID	r²[population]
rs17759502	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17821321	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2212616	0.81[JPT][hapmap]
rs36125179	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4545589	0.82[CEU][hapmap]
rs7108829	0.83[JPT][hapmap]
rs7117070	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7928637	0.82[ASN][1000 genomes]
rs7936130	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1045057	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv541121	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv898064	chr11:86864277-87013438	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2829956	chr11:86872504-87025059	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv898073	chr11:86963330-87013438	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
9	nsv898074	chr11:86963330-87034696	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a
10	nsv555713	chr11:86971548-87013438	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86991600-87014200	Weak transcription	HepG2	liver
2	chr11:86992000-87017600	Weak transcription	Aorta	Aorta
3	chr11:86992600-87020600	Weak transcription	Liver	Liver
4	chr11:86994000-87014200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:86995200-87018800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:87004000-87032600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:87006400-87030600	Weak transcription	Dnd41	blood
8	chr11:87008200-87013400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:87008400-87017400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:87010200-87017400	Weak transcription	Small Intestine	intestine
11	chr11:87010200-87037200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:87010600-87018000	Weak transcription	Gastric	stomach
13	chr11:87010600-87036800	Weak transcription	Psoas Muscle	Psoas
14	chr11:87010800-87017400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:87011600-87013800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:87011800-87013400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:87011800-87013800	Enhancers	Brain Substantia Nigra	brain
18	chr11:87011800-87024000	Weak transcription	Fetal Brain Female	brain
19	chr11:87011800-87036800	Weak transcription	Primary B cells from cord blood	blood
20	chr11:87012000-87013800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr11:87012000-87014200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr11:87012000-87014200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr11:87012000-87014800	Weak transcription	Fetal Kidney	kidney
24	chr11:87012000-87017400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:87012000-87017400	Weak transcription	Ovary	ovary
26	chr11:87012000-87024600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:87012000-87032200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr11:87012000-87034200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:87012000-87040400	Weak transcription	Fetal Intestine Small	intestine
30	chr11:87012200-87013400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:87012200-87014200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr11:87012200-87018000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:87012200-87020400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:87012400-87013400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:87012400-87013400	Enhancers	HSMMtube	muscle
36	chr11:87012400-87013800	Enhancers	HUVEC	blood vessel
37	chr11:87012400-87017600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:87012400-87030400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr11:87012400-87032200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr11:87012600-87015200	Weak transcription	Left Ventricle	heart
41	chr11:87012600-87017400	Weak transcription	Adipose Nuclei	Adipose
42	chr11:87012600-87017400	Weak transcription	Fetal Thymus	thymus
43	chr11:87012600-87017400	Weak transcription	Spleen	Spleen
44	chr11:87012600-87017400	Weak transcription	K562	blood
45	chr11:87012600-87017600	Weak transcription	Right Atrium	heart
46	chr11:87012600-87017600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:87012600-87017800	Weak transcription	Pancreas	Pancrea
48	chr11:87012600-87019200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:87012600-87019400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:87012600-87030200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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