Variant report

Variant	rs2227683
Chromosome Location	chr7:100776636-100776637
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100739178..100743225-chr7:100773876..100776882,3	K562	blood:
2	chr7:100770444..100773305-chr7:100773792..100776884,4	K562	blood:
3	chr7:100738680..100740515-chr7:100774079..100776785,2	K562	blood:
4	chr7:100775835..100777683-chr7:100779286..100781024,2	MCF-7	breast:
5	chr7:100769914..100773305-chr7:100775295..100778083,3	K562	blood:

Variant related genes	Relation type
ENSG00000106366	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10215095	1.00[CHB][hapmap]
rs10244048	1.00[CHB][hapmap]
rs10267665	1.00[CHB][hapmap]
rs10269821	1.00[CHB][hapmap]
rs10275377	1.00[CHB][hapmap]
rs1029528	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1050813	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10900	1.00[CHB][hapmap]
rs11544858	1.00[CHB][hapmap]
rs11978776	1.00[CHB][hapmap]
rs13236755	1.00[CHB][hapmap]
rs13241519	1.00[CHB][hapmap]
rs2227676	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34169259	1.00[CHB][hapmap]
rs34532455	1.00[CHB][hapmap]
rs36060097	1.00[CHB][hapmap]
rs6968925	1.00[CHB][hapmap]
rs73178546	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][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	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
5	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
6	nsv464649	chr7:100739682-100810983	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv607972	chr7:100739682-100810983	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
9	nsv1018841	chr7:100760410-100868299	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
10	nsv534186	chr7:100773842-100898909	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100770400-100781600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:100770600-100780800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:100770800-100780800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:100770800-100780800	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:100770800-100781000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:100770800-100781800	Weak transcription	Gastric	stomach
7	chr7:100770800-100783000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:100771000-100777200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:100771400-100777000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:100771400-100777200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:100771400-100778200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:100771600-100777000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:100771600-100781200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:100771800-100776800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:100771800-100777000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:100771800-100777000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:100771800-100777000	Weak transcription	Esophagus	oesophagus
18	chr7:100771800-100780600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:100772000-100777000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:100772000-100777000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:100772000-100777000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:100772000-100779000	Weak transcription	Spleen	Spleen
23	chr7:100772000-100780600	Weak transcription	Hela-S3	cervix
24	chr7:100772000-100781200	Weak transcription	Psoas Muscle	Psoas
25	chr7:100772000-100781800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:100772000-100797400	Weak transcription	Right Atrium	heart
27	chr7:100772200-100777000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:100772200-100778000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:100772200-100781800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:100772400-100777200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:100772800-100778200	Transcr. at gene 5' and 3'	Osteobl	bone
32	chr7:100772800-100780600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:100773200-100781600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:100773400-100780600	Strong transcription	Liver	Liver
35	chr7:100773600-100777400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:100773600-100777600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:100773600-100779400	Strong transcription	Left Ventricle	heart
38	chr7:100773600-100781200	Strong transcription	Fetal Stomach	stomach
39	chr7:100773800-100780400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:100774000-100780200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:100774000-100781400	Strong transcription	Aorta	Aorta
42	chr7:100774200-100777000	Strong transcription	Placenta	Placenta
43	chr7:100774200-100781600	Genic enhancers	NHDF-Ad	bronchial
44	chr7:100774600-100781600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:100775400-100777000	Strong transcription	Right Ventricle	heart
46	chr7:100775400-100777000	Genic enhancers	A549	lung
47	chr7:100775600-100776800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr7:100775600-100776800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:100775600-100776800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:100775600-100776800	Genic enhancers	NHLF	lung

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