Variant report

Variant	rs12242699
Chromosome Location	chr10:20116635-20116636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10764158	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10827858	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1116210	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16919374	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1977538	0.87[ASN][1000 genomes]
rs2478143	0.89[ASN][1000 genomes]
rs2478144	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2481935	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs333688	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4475831	0.92[EUR][1000 genomes]
rs6482066	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7894992	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7908024	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7924250	0.87[EUR][1000 genomes];0.80[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	nsv1049295	chr10:19740296-20509036	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv34306	chr10:19777069-20117944	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1044794	chr10:20010269-20391329	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv540510	chr10:20010269-20391329	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1038966	chr10:20010469-20391190	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv540511	chr10:20010469-20391190	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1037055	chr10:20010469-20651965	Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv540512	chr10:20010469-20651965	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:20107000-20117800	Weak transcription	Spleen	Spleen
2	chr10:20107600-20117000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:20107600-20117200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr10:20107600-20117600	Weak transcription	Right Ventricle	heart
5	chr10:20107600-20117800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr10:20107600-20121600	Weak transcription	Left Ventricle	heart
7	chr10:20108200-20117000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr10:20108600-20117000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr10:20108600-20117000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr10:20108600-20117400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:20108600-20117600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr10:20108800-20117800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr10:20109000-20117000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr10:20109000-20117600	Weak transcription	HSMMtube	muscle
15	chr10:20110400-20151400	Weak transcription	Fetal Intestine Small	intestine
16	chr10:20112200-20119800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr10:20112600-20117000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr10:20113000-20119600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:20113000-20119800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr10:20113200-20118800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr10:20113200-20119400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr10:20113800-20117600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr10:20114000-20125200	Weak transcription	Fetal Kidney	kidney
24	chr10:20114200-20117000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr10:20114200-20117000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr10:20114200-20117200	Weak transcription	Fetal Stomach	stomach
27	chr10:20114600-20117000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr10:20115000-20117400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr10:20115200-20118400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr10:20115200-20154000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr10:20115600-20117800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr10:20115800-20118000	Enhancers	Brain Angular Gyrus	brain
33	chr10:20115800-20118400	Enhancers	Brain Substantia Nigra	brain
34	chr10:20115800-20118400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr10:20115800-20118600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr10:20115800-20118600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr10:20116000-20117000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr10:20116000-20117800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr10:20116000-20117800	Weak transcription	Psoas Muscle	Psoas
40	chr10:20116000-20118200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:20116200-20117000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr10:20116200-20117000	Weak transcription	Aorta	Aorta
43	chr10:20116200-20117000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr10:20116200-20117000	Enhancers	Fetal Lung	lung
45	chr10:20116200-20117200	Weak transcription	Colon Smooth Muscle	Colon
46	chr10:20116200-20117600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr10:20116200-20117600	Weak transcription	HMEC	breast
48	chr10:20116200-20117800	Enhancers	Brain Hippocampus Middle	brain
49	chr10:20116200-20118200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr10:20116200-20121600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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