Variant report

Variant	rs11570574
Chromosome Location	chr17:45198555-45198556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11570480	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11570491	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11570533	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12451565	1.00[AMR][1000 genomes]
rs12452020	1.00[AMR][1000 genomes]
rs12452813	1.00[AMR][1000 genomes]
rs12453953	1.00[AMR][1000 genomes]
rs55807756	1.00[AMR][1000 genomes]
rs55892126	1.00[AMR][1000 genomes]
rs60653820	1.00[AMR][1000 genomes]
rs7210725	1.00[AMR][1000 genomes]
rs7218079	1.00[AMR][1000 genomes]
rs7224871	1.00[AMR][1000 genomes]
rs73985115	1.00[AMR][1000 genomes]
rs73985116	1.00[AMR][1000 genomes]
rs73985119	1.00[AMR][1000 genomes]
rs73988218	1.00[AMR][1000 genomes]
rs8073803	1.00[AMR][1000 genomes]
rs8080037	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8081278	0.81[AFR][1000 genomes];1.00[AMR][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	nsv833466	chr17:45020360-45204537	Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers 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 miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv3332795	chr17:45116212-45209297	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	esv3386521	chr17:45116232-45209267	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1059766	chr17:45130765-45203468	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	esv2760450	chr17:45130777-45225222	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv908563	chr17:45158537-45230311	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv962456	chr17:45163689-45212872	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45185600-45206400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr17:45190000-45203200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr17:45191000-45202000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr17:45191200-45202600	Weak transcription	Right Ventricle	heart
5	chr17:45192400-45212800	Weak transcription	Gastric	stomach
6	chr17:45192600-45200200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr17:45193200-45212800	Weak transcription	Aorta	Aorta
8	chr17:45194000-45209800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr17:45194200-45204600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:45194200-45208200	Strong transcription	HUVEC	blood vessel
11	chr17:45194200-45209600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr17:45194200-45209600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr17:45194200-45209800	Strong transcription	Dnd41	blood
14	chr17:45194400-45201000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr17:45194800-45198800	Weak transcription	Fetal Intestine Small	intestine
16	chr17:45194800-45203600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr17:45194800-45212800	Weak transcription	Colonic Mucosa	Colon
18	chr17:45194800-45214400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr17:45194800-45234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr17:45195400-45199000	Strong transcription	Primary hematopoietic stem cells	blood
21	chr17:45195400-45201200	Strong transcription	Liver	Liver
22	chr17:45195400-45209600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr17:45195400-45209800	Strong transcription	Fetal Thymus	thymus
24	chr17:45195600-45203200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr17:45195600-45209400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:45195800-45201600	Strong transcription	Adipose Nuclei	Adipose
27	chr17:45195800-45212800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr17:45196000-45199200	Strong transcription	K562	blood
29	chr17:45196000-45201400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr17:45196000-45205600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr17:45196000-45206400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr17:45196000-45209600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr17:45196000-45209800	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr17:45196200-45212800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:45196400-45204200	Weak transcription	Lung	lung
36	chr17:45196400-45204200	Weak transcription	Spleen	Spleen
37	chr17:45196400-45212800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr17:45196400-45212800	Weak transcription	Ovary	ovary
39	chr17:45196600-45207400	Strong transcription	Placenta	Placenta
40	chr17:45196600-45213000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:45196600-45213000	Weak transcription	Esophagus	oesophagus
42	chr17:45196800-45198800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:45196800-45199000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr17:45197000-45198800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
45	chr17:45197000-45200000	Strong transcription	Primary B cells from cord blood	blood
46	chr17:45197000-45200000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr17:45197000-45200000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr17:45197000-45207000	Strong transcription	Fetal Lung	lung
49	chr17:45197200-45198600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
50	chr17:45197200-45198600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell

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