Variant report

Variant	rs2227690
Chromosome Location	chr7:100778622-100778623
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100776944..100779474-chr7:100779720..100781551,2	K562	blood:
2	chr7:100750302..100752925-chr7:100778093..100782237,4	MCF-7	breast:
3	chr7:100743340..100745457-chr7:100777578..100780413,3	MCF-7	breast:
4	chr7:100768262..100771684-chr7:100777874..100781992,4	K562	blood:

Variant related genes	Relation type
ENSG00000106366	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11772356	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12667943	1.00[JPT][hapmap]
rs13225064	0.86[CHB][hapmap]
rs13228919	0.86[CHB][hapmap]
rs2227672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4571672	0.86[CHB][hapmap]
rs6092	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9792109	0.86[CHB][hapmap]

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:76 , 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	chr7:100771600-100781200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:100771800-100780600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:100772000-100779000	Weak transcription	Spleen	Spleen
11	chr7:100772000-100780600	Weak transcription	Hela-S3	cervix
12	chr7:100772000-100781200	Weak transcription	Psoas Muscle	Psoas
13	chr7:100772000-100781800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:100772000-100797400	Weak transcription	Right Atrium	heart
15	chr7:100772200-100781800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:100772800-100780600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:100773200-100781600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:100773400-100780600	Strong transcription	Liver	Liver
19	chr7:100773600-100779400	Strong transcription	Left Ventricle	heart
20	chr7:100773600-100781200	Strong transcription	Fetal Stomach	stomach
21	chr7:100773800-100780400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:100774000-100780200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:100774000-100781400	Strong transcription	Aorta	Aorta
24	chr7:100774200-100781600	Genic enhancers	NHDF-Ad	bronchial
25	chr7:100774600-100781600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:100776000-100781600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:100776200-100780800	Strong transcription	HSMMtube	muscle
28	chr7:100776600-100779000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr7:100776600-100781600	Genic enhancers	NHEK	skin
30	chr7:100776800-100779600	Enhancers	K562	blood
31	chr7:100776800-100780200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:100776800-100781600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:100777000-100779200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr7:100777000-100779200	Genic enhancers	Placenta	Placenta
35	chr7:100777000-100779400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:100777200-100778800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:100777200-100778800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr7:100777200-100779400	Strong transcription	Lung	lung
39	chr7:100777400-100779400	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr7:100777400-100780600	Strong transcription	Right Ventricle	heart
41	chr7:100777400-100781000	Genic enhancers	A549	lung
42	chr7:100777400-100781200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:100777400-100781400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr7:100777400-100781400	Genic enhancers	NHLF	lung
45	chr7:100777600-100778800	Strong transcription	HMEC	breast
46	chr7:100777600-100779200	Genic enhancers	HSMM	muscle
47	chr7:100777600-100781000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:100777800-100779000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:100777800-100781200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr7:100778000-100779000	Enhancers	Primary hematopoietic stem cells	blood

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