Variant report

Variant	rs1942681
Chromosome Location	chr11:102020368-102020369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12417236	1.00[EUR][1000 genomes]
rs12420608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17097445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57102842	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58421489	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58715614	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59739003	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73577816	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73577857	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73577867	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73577889	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73577900	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73579981	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73582014	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs948736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs974830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101998600-102033000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:101998600-102034200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:102000800-102034000	Weak transcription	Lung	lung
4	chr11:102005800-102033000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:102010200-102032400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:102010400-102020800	Weak transcription	Left Ventricle	heart
7	chr11:102010400-102023000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:102010400-102039000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:102012600-102028600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:102012600-102034200	Weak transcription	Fetal Muscle Leg	muscle
11	chr11:102014600-102023000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:102014800-102028400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:102015000-102021600	Weak transcription	Gastric	stomach
14	chr11:102015400-102022000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:102015800-102021600	Weak transcription	Psoas Muscle	Psoas
16	chr11:102015800-102022400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:102015800-102023400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:102015800-102033200	Weak transcription	Spleen	Spleen
19	chr11:102016000-102021600	Weak transcription	Right Ventricle	heart
20	chr11:102016000-102021800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:102016000-102022600	Weak transcription	Right Atrium	heart
22	chr11:102016000-102022600	Weak transcription	NHEK	skin
23	chr11:102016000-102023600	Weak transcription	Small Intestine	intestine
24	chr11:102016000-102026200	Weak transcription	HMEC	breast
25	chr11:102016000-102028800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:102016000-102033200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:102016200-102022000	Weak transcription	NHLF	lung
28	chr11:102016200-102025400	Weak transcription	Fetal Kidney	kidney
29	chr11:102016200-102026200	Weak transcription	HUVEC	blood vessel
30	chr11:102016200-102026800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:102016200-102027400	Weak transcription	Fetal Intestine Small	intestine
32	chr11:102016200-102027600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:102016200-102027800	Weak transcription	Fetal Intestine Large	intestine
34	chr11:102016200-102027800	Weak transcription	NH-A	brain
35	chr11:102016400-102022600	Weak transcription	Osteobl	bone
36	chr11:102016800-102021200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:102016800-102026200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr11:102017000-102022800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:102017200-102020400	Weak transcription	Ovary	ovary
40	chr11:102017200-102021600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:102017200-102022200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:102017200-102033000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:102017400-102027400	Weak transcription	Adipose Nuclei	Adipose
44	chr11:102018000-102021800	Weak transcription	Liver	Liver
45	chr11:102018200-102025600	Weak transcription	Fetal Stomach	stomach
46	chr11:102018400-102025600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:102018600-102028000	Weak transcription	HSMM	muscle
48	chr11:102019000-102021600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:102019000-102023800	Weak transcription	A549	lung
50	chr11:102019200-102022000	Weak transcription	NHDF-Ad	bronchial

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