Variant report

Variant	rs17110058
Chromosome Location	chr1:94016011-94016012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11164939	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11164941	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12034656	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17109958	0.97[EUR][1000 genomes]
rs237438	0.84[ASN][1000 genomes]
rs237439	0.84[ASN][1000 genomes]
rs3767966	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61780647	0.97[EUR][1000 genomes]
rs61784068	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011853	chr1:93966450-94039005	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93965000-94017400	Weak transcription	Stomach Mucosa	stomach
2	chr1:93973200-94016800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:93973400-94032000	Weak transcription	Esophagus	oesophagus
4	chr1:93984200-94017400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:93985600-94017600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:93985800-94017800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:93986000-94017600	Weak transcription	NHEK	skin
8	chr1:93992000-94018000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:93992200-94017800	Weak transcription	Gastric	stomach
10	chr1:93992200-94018400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:93995000-94045000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:93995600-94018000	Weak transcription	Primary T cells from cord blood	blood
13	chr1:93997400-94017600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:93997600-94018200	Weak transcription	A549	lung
15	chr1:94003600-94017600	Weak transcription	NHDF-Ad	bronchial
16	chr1:94004000-94017200	Weak transcription	Osteobl	bone
17	chr1:94005400-94017600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:94006800-94017200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:94006800-94017600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:94007600-94017200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:94007800-94016200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:94007800-94017600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:94008200-94016600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:94008400-94018400	Weak transcription	Right Ventricle	heart
25	chr1:94009000-94017400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:94009200-94017600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:94009600-94016800	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr1:94009800-94016800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:94009800-94017000	Strong transcription	Fetal Kidney	kidney
30	chr1:94010400-94021800	Weak transcription	Lung	lung
31	chr1:94011000-94018200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:94011800-94016200	Strong transcription	HUVEC	blood vessel
33	chr1:94011800-94016400	Strong transcription	Fetal Muscle Leg	muscle
34	chr1:94011800-94017800	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr1:94011800-94018600	Weak transcription	Colonic Mucosa	Colon
36	chr1:94012000-94016200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:94012000-94016600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:94012000-94016800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:94012200-94019000	Strong transcription	Dnd41	blood
40	chr1:94012400-94016800	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:94012400-94017000	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr1:94012400-94019000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr1:94012600-94017600	Strong transcription	Fetal Lung	lung
44	chr1:94012600-94018200	Strong transcription	Fetal Intestine Large	intestine
45	chr1:94012800-94016800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:94012800-94017600	Weak transcription	Brain Anterior Caudate	brain
47	chr1:94012800-94018200	Weak transcription	Fetal Thymus	thymus
48	chr1:94012800-94019000	Strong transcription	Liver	Liver
49	chr1:94012800-94024800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr1:94013000-94016800	Strong transcription	HMEC	breast

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