Variant report

Variant	rs2598183
Chromosome Location	chr7:129092695-129092696
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129091156..129093659-chr7:129095757..129098734,2	MCF-7	breast:
2	chr7:129091549..129093191-chr7:129130902..129133735,2	MCF-7	breast:
3	chr7:129078918..129082456-chr7:129089689..129095627,7	K562	blood:
4	chr7:129091760..129094505-chr7:129102793..129105599,2	K562	blood:
5	chr7:129088957..129092842-chr7:129097712..129099718,4	K562	blood:
6	chr7:129078918..129084090-chr7:129089689..129096186,10	K562	blood:

Variant related genes	Relation type
ENSG00000128578	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11768964	0.85[CHB][hapmap]
rs11771549	1.00[CHB][hapmap]
rs581829	0.85[CHB][hapmap]
rs587499	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613068	0.85[CHB][hapmap]
rs639605	0.85[CHB][hapmap]
rs655239	0.85[CHB][hapmap]
rs657664	0.85[CHB][hapmap]
rs676947	0.85[CHB][hapmap]
rs690872	0.85[CHB][hapmap]
rs691183	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs691303	1.00[CHB][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs691325	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs692132	0.85[CHB][hapmap]
rs692509	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428508	chr7:128946738-129114691	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1015550	chr7:128992460-129111060	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv539122	chr7:128992460-129111060	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr7:129075200-129096000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:129075200-129100600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:129075200-129108400	Weak transcription	Gastric	stomach
4	chr7:129075400-129093200	Weak transcription	Brain Angular Gyrus	brain
5	chr7:129075400-129102800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:129075400-129105800	Weak transcription	Ovary	ovary
7	chr7:129076000-129095000	Weak transcription	Dnd41	blood
8	chr7:129076000-129110000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:129077400-129109400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:129079200-129095200	Weak transcription	NHLF	lung
11	chr7:129079600-129107200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:129079800-129106400	Weak transcription	NHDF-Ad	bronchial
13	chr7:129080000-129094600	Weak transcription	Hela-S3	cervix
14	chr7:129080000-129104800	Weak transcription	A549	lung
15	chr7:129080000-129128000	Weak transcription	HUVEC	blood vessel
16	chr7:129080400-129094000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:129080600-129101800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:129082600-129108400	Weak transcription	Thymus	Thymus
19	chr7:129083800-129112800	Strong transcription	K562	blood
20	chr7:129084400-129093000	Weak transcription	Right Ventricle	heart
21	chr7:129085800-129103600	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:129086400-129094800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:129087600-129093800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:129087600-129103600	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:129088000-129096200	Weak transcription	Psoas Muscle	Psoas
26	chr7:129088400-129093400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:129088400-129098000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:129088800-129099800	Weak transcription	HSMMtube	muscle
29	chr7:129089200-129093200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:129089200-129106600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:129089400-129092800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:129089400-129093000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:129089400-129093600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:129089400-129094000	Weak transcription	Fetal Muscle Leg	muscle
35	chr7:129089400-129096000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:129089400-129099400	Weak transcription	Spleen	Spleen
37	chr7:129089400-129102600	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:129089400-129108400	Weak transcription	Fetal Lung	lung
39	chr7:129089400-129110000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:129089600-129096200	Weak transcription	Fetal Stomach	stomach
41	chr7:129089600-129097800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:129089600-129106400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:129089600-129110200	Weak transcription	Brain Substantia Nigra	brain
44	chr7:129090400-129096000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:129090600-129092800	Weak transcription	HSMM	muscle
46	chr7:129090600-129094800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:129091400-129093800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:129091400-129096600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
49	chr7:129091400-129097000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:129091400-129104000	Strong transcription	Brain Anterior Caudate	brain

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