Variant report

Variant	rs1942687
Chromosome Location	chr11:102058225-102058226
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10750636	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs10791567	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs10791568	0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17885946	1.00[EUR][1000 genomes]
rs1894117	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1942682	1.00[EUR][1000 genomes]
rs2187158	1.00[EUR][1000 genomes]
rs4754835	1.00[EUR][1000 genomes]
rs4754837	1.00[EUR][1000 genomes]
rs60801984	1.00[EUR][1000 genomes]
rs6590951	0.89[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7106107	0.92[YRI][hapmap]
rs7110639	1.00[EUR][1000 genomes]
rs7924931	1.00[EUR][1000 genomes]
rs7931810	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv898333	chr11:101832670-102079986	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv832251	chr11:102012295-102181744	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv1043388	chr11:102017719-102172857	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102026400-102059400	Weak transcription	Fetal Brain Male	brain
2	chr11:102028000-102062800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:102029200-102067600	Weak transcription	HSMMtube	muscle
4	chr11:102033400-102061000	Weak transcription	Right Ventricle	heart
5	chr11:102034600-102076800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr11:102036000-102069400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:102041600-102062400	Weak transcription	Left Ventricle	heart
8	chr11:102043800-102077000	Weak transcription	Esophagus	oesophagus
9	chr11:102043800-102100400	Weak transcription	Pancreas	Pancrea
10	chr11:102046800-102076600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:102048200-102062400	Weak transcription	Liver	Liver
12	chr11:102048400-102065200	Weak transcription	Aorta	Aorta
13	chr11:102048400-102073600	Weak transcription	Psoas Muscle	Psoas
14	chr11:102048400-102077200	Weak transcription	Lung	lung
15	chr11:102050200-102061600	Weak transcription	Small Intestine	intestine
16	chr11:102050400-102076600	Weak transcription	Placenta	Placenta
17	chr11:102051400-102076600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:102052000-102062400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:102052000-102076600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:102054200-102059600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:102054400-102058400	Enhancers	NHDF-Ad	bronchial
22	chr11:102055000-102059200	Enhancers	Fetal Lung	lung
23	chr11:102055400-102058400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:102055600-102058600	Weak transcription	Gastric	stomach
25	chr11:102055600-102059600	Enhancers	Fetal Stomach	stomach
26	chr11:102055800-102058600	Weak transcription	Adipose Nuclei	Adipose
27	chr11:102055800-102059200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:102056000-102063200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:102056000-102078400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:102056200-102058400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:102056200-102074800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr11:102056400-102060000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:102056600-102058800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr11:102056800-102058800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr11:102056800-102058800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr11:102057000-102058600	Enhancers	NH-A	brain
37	chr11:102057000-102059200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:102057000-102059600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:102057000-102059600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:102057000-102059600	Enhancers	Fetal Heart	heart
41	chr11:102057000-102059600	Enhancers	Fetal Kidney	kidney
42	chr11:102057200-102058600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:102057200-102058800	Flanking Active TSS	HepG2	liver
44	chr11:102057200-102059000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr11:102057200-102059200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr11:102057200-102059600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:102057200-102059600	Enhancers	Fetal Intestine Small	intestine
48	chr11:102057200-102060000	Enhancers	Stomach Mucosa	stomach
49	chr11:102057200-102066800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:102057400-102059000	Enhancers	Brain Germinal Matrix	brain

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