Variant report

Variant	rs57102842
Chromosome Location	chr11:102015232-102015233
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12417236	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12420608	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17097445	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1942681	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754040	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58421489	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58715614	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59739003	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73577816	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73577857	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73577867	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73577889	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73577900	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73579981	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73582014	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs948736	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs974830	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101991600-102015600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr11:101998600-102033000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:101998600-102034200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:102000800-102034000	Weak transcription	Lung	lung
5	chr11:102004600-102015600	Weak transcription	Ovary	ovary
6	chr11:102005800-102033000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:102006400-102015400	Weak transcription	Right Atrium	heart
8	chr11:102006400-102015600	Weak transcription	Right Ventricle	heart
9	chr11:102009200-102015600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:102009200-102015600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:102010000-102015600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:102010000-102015600	Weak transcription	HUVEC	blood vessel
13	chr11:102010200-102032400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:102010400-102015600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:102010400-102015600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:102010400-102015600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr11:102010400-102020800	Weak transcription	Left Ventricle	heart
18	chr11:102010400-102023000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:102010400-102039000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:102010600-102015400	Weak transcription	Fetal Intestine Large	intestine
21	chr11:102010600-102015600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:102010800-102015400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:102011000-102015600	Weak transcription	NH-A	brain
24	chr11:102011400-102016000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:102011800-102019000	Enhancers	Fetal Heart	heart
26	chr11:102012200-102015600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:102012600-102015600	Weak transcription	HMEC	breast
28	chr11:102012600-102016800	Weak transcription	Aorta	Aorta
29	chr11:102012600-102028600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:102012600-102034200	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:102013000-102015600	Enhancers	HSMMtube	muscle
32	chr11:102013600-102016200	Enhancers	NHLF	lung
33	chr11:102013800-102017000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:102013800-102019000	Enhancers	HepG2	liver
35	chr11:102014200-102015800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:102014200-102016000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr11:102014200-102016000	Enhancers	Stomach Mucosa	stomach
38	chr11:102014400-102016200	Enhancers	A549	lung
39	chr11:102014400-102016400	Enhancers	Osteobl	bone
40	chr11:102014400-102016800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr11:102014400-102018000	Enhancers	Liver	Liver
42	chr11:102014600-102016000	Enhancers	Small Intestine	intestine
43	chr11:102014600-102016200	Enhancers	NHDF-Ad	bronchial
44	chr11:102014600-102016600	Enhancers	Colon Smooth Muscle	Colon
45	chr11:102014600-102016600	Genic enhancers	HSMM	muscle
46	chr11:102014600-102016800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:102014600-102017200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:102014600-102017400	Enhancers	Adipose Nuclei	Adipose
49	chr11:102014600-102023000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:102014800-102015400	Weak transcription	Psoas Muscle	Psoas

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