Variant report

Variant	rs7700630
Chromosome Location	chr5:108099101-108099102
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:108082592..108085092-chr5:108095737..108100494,4	K562	blood:
2	chr5:108090457..108092547-chr5:108098147..108100214,3	K562	blood:
3	chr5:108091047..108093958-chr5:108097399..108100214,2	K562	blood:

Variant related genes	Relation type
ENSG00000151422	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10038669	0.82[CHD][hapmap];0.85[MEX][hapmap]
rs10040696	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10044305	0.83[GIH][hapmap];0.86[MEX][hapmap]
rs10060694	0.81[ASN][1000 genomes]
rs10073668	0.82[CHD][hapmap];0.81[MEX][hapmap]
rs10079165	0.92[ASW][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap];0.90[MEX][hapmap];0.85[ASN][1000 genomes]
rs10477431	0.81[ASN][1000 genomes]
rs1109617	0.86[MEX][hapmap]
rs13173714	0.86[MEX][hapmap]
rs13180513	0.82[CHD][hapmap];0.90[MEX][hapmap]
rs1472916	0.91[ASW][hapmap];0.81[MEX][hapmap]
rs2081126	0.81[ASN][1000 genomes]
rs2081129	0.81[ASN][1000 genomes]
rs2081130	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2900035	0.82[CHD][hapmap];0.95[MEX][hapmap];0.84[ASN][1000 genomes]
rs35398495	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4957789	0.86[MEX][hapmap]
rs6594340	0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6871143	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6871239	0.91[MEX][hapmap];0.83[TSI][hapmap]
rs6873068	0.81[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6874229	0.82[CHD][hapmap];0.86[MEX][hapmap]
rs6875320	0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6880284	0.82[CHD][hapmap];0.90[MEX][hapmap]
rs6882107	1.00[CEU][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6889550	0.84[ASN][1000 genomes]
rs6889967	0.81[AMR][1000 genomes]
rs6891194	0.84[ASN][1000 genomes]
rs7725391	0.81[ASN][1000 genomes]
rs7731891	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108085600-108102600	Weak transcription	Lung	lung
2	chr5:108085600-108119800	Weak transcription	Left Ventricle	heart
3	chr5:108086200-108119200	Weak transcription	Fetal Kidney	kidney
4	chr5:108086200-108120600	Weak transcription	Brain Hippocampus Middle	brain
5	chr5:108089800-108119400	Weak transcription	Hela-S3	cervix
6	chr5:108089800-108119800	Weak transcription	HSMM	muscle
7	chr5:108090000-108105000	Weak transcription	NHLF	lung
8	chr5:108090000-108109800	Weak transcription	Adipose Nuclei	Adipose
9	chr5:108090200-108100600	Weak transcription	NHDF-Ad	bronchial
10	chr5:108090200-108127600	Weak transcription	NH-A	brain
11	chr5:108094800-108099200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:108095000-108122600	Weak transcription	Right Ventricle	heart
13	chr5:108095600-108119400	Weak transcription	Aorta	Aorta
14	chr5:108095800-108102600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:108096000-108100600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:108096000-108119600	Weak transcription	Primary B cells from cord blood	blood
17	chr5:108096200-108100800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:108096200-108101200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:108096200-108109600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:108096200-108119800	Weak transcription	HSMMtube	muscle
21	chr5:108096400-108100600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:108096400-108102200	Weak transcription	NHEK	skin
23	chr5:108096400-108102400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:108096400-108102400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:108096400-108105600	Weak transcription	HMEC	breast
26	chr5:108096400-108107200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:108096400-108107600	Weak transcription	Fetal Lung	lung
28	chr5:108096400-108108400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:108096400-108109200	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:108096400-108109400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:108096400-108110400	Weak transcription	Fetal Brain Female	brain
32	chr5:108096400-108112800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:108096400-108134000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:108096600-108109600	Weak transcription	Fetal Intestine Small	intestine
35	chr5:108096600-108119400	Weak transcription	Primary T cells from cord blood	blood
36	chr5:108096800-108109000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr5:108097800-108099600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:108097800-108100000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr5:108098000-108099200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:108098000-108099400	Enhancers	Brain Cingulate Gyrus	brain
41	chr5:108098200-108099400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr5:108098200-108099400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr5:108098200-108100600	Weak transcription	GM12878-XiMat	blood
44	chr5:108098200-108102600	Weak transcription	Gastric	stomach
45	chr5:108098400-108099600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr5:108098400-108100000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr5:108098400-108100600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr5:108098400-108105000	Weak transcription	Brain Anterior Caudate	brain
49	chr5:108098400-108106200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr5:108098400-108111600	Weak transcription	Brain Angular Gyrus	brain

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