Variant report

Variant	rs2107308
Chromosome Location	chr17:46164947-46164948
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12602010	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12947056	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12953085	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34130316	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34449497	0.83[EUR][1000 genomes]
rs62064917	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62064918	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7209484	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7215582	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7224648	0.81[EUR][1000 genomes]
rs8065464	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8081209	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8438	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	esv1804681	chr17:46144628-46168544	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46144800-46177800	Weak transcription	Right Ventricle	heart
2	chr17:46147800-46177600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr17:46149000-46178000	Weak transcription	Lung	lung
4	chr17:46152400-46168200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr17:46152400-46177200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr17:46152600-46176800	Weak transcription	K562	blood
7	chr17:46152600-46177000	Weak transcription	HSMMtube	muscle
8	chr17:46153400-46170800	Weak transcription	HSMM	muscle
9	chr17:46153800-46176800	Weak transcription	NHLF	lung
10	chr17:46154200-46176800	Weak transcription	HMEC	breast
11	chr17:46154200-46177600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr17:46154400-46166000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr17:46154400-46166000	Weak transcription	HUVEC	blood vessel
14	chr17:46154400-46166200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr17:46154400-46167800	Weak transcription	Primary B cells from cord blood	blood
16	chr17:46154400-46168000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr17:46154400-46170600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr17:46154400-46170800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr17:46154400-46170800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:46154400-46170800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr17:46154400-46171000	Weak transcription	HepG2	liver
22	chr17:46154400-46171200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:46154400-46171200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr17:46154400-46171200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:46154400-46171200	Weak transcription	Spleen	Spleen
26	chr17:46154400-46173000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:46154400-46176800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr17:46154400-46177000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr17:46154400-46177200	Weak transcription	Placenta	Placenta
30	chr17:46154400-46177600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr17:46154400-46177600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr17:46154400-46177600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr17:46154400-46177600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr17:46154400-46177600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr17:46154400-46177600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr17:46154400-46177800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:46154600-46169600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr17:46154600-46170800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr17:46154600-46170800	Weak transcription	Fetal Brain Female	brain
40	chr17:46154600-46170800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr17:46154600-46171000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr17:46154600-46171000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr17:46154600-46171000	Weak transcription	Thymus	Thymus
44	chr17:46154600-46171200	Weak transcription	Fetal Intestine Large	intestine
45	chr17:46154600-46175400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr17:46154600-46176800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr17:46154600-46177000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr17:46154600-46177000	Weak transcription	Osteobl	bone
49	chr17:46154600-46177600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr17:46155200-46168000	Weak transcription	Dnd41	blood

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