Variant report

Variant	rs17492269
Chromosome Location	chr7:70047405-70047406
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:70041903..70043590-chr7:70046514..70049488,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs38316	0.86[ASN][1000 genomes]
rs38317	0.86[ASN][1000 genomes]
rs38318	0.86[ASN][1000 genomes]
rs38319	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs38320	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs38321	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs38322	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs38323	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs38324	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs38326	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025522	chr7:69971452-70173513	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1032378	chr7:70010392-70190353	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538929	chr7:70010392-70190353	Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024498	chr7:70016323-70190353	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538930	chr7:70016323-70190353	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1024524	chr7:70031241-70138924	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70034000-70048600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:70034800-70047600	Weak transcription	Fetal Lung	lung
3	chr7:70036600-70047600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:70036800-70060800	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:70037400-70048200	Weak transcription	Fetal Intestine Large	intestine
6	chr7:70037800-70049200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:70038600-70059600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr7:70039800-70060600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:70040800-70048400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:70042000-70047800	Weak transcription	Fetal Brain Female	brain
11	chr7:70042000-70048200	Weak transcription	Fetal Brain Male	brain
12	chr7:70042000-70048600	Weak transcription	Brain Anterior Caudate	brain
13	chr7:70044600-70050400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:70045200-70047600	Weak transcription	Fetal Kidney	kidney
15	chr7:70045200-70051600	Weak transcription	HSMMtube	muscle
16	chr7:70045400-70048400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:70045400-70048400	Weak transcription	NHEK	skin
18	chr7:70045400-70048600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:70045400-70048600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:70045400-70049400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:70045400-70049600	Weak transcription	Pancreas	Pancrea
22	chr7:70045400-70051400	Weak transcription	HSMM	muscle
23	chr7:70045400-70060800	Weak transcription	Gastric	stomach
24	chr7:70046400-70050800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:70046600-70049800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:70046600-70050400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:70046600-70050800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr7:70047000-70047800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr7:70047000-70050800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:70047000-70053000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:70047200-70047800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr7:70047200-70048000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:70047200-70050200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:70047200-70050200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:70047200-70050600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr7:70047200-70050600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr7:70047200-70050600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr7:70047200-70050800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:70047200-70050800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr7:70047400-70047800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:70047400-70047800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:70047400-70047800	Weak transcription	Ovary	ovary
43	chr7:70047400-70049400	Enhancers	Fetal Heart	heart
44	chr7:70047400-70050000	Enhancers	Fetal Muscle Leg	muscle
45	chr7:70047400-70050400	Enhancers	Fetal Stomach	stomach
46	chr7:70047400-70050600	Enhancers	Fetal Intestine Small	intestine

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