Variant report

Variant	rs55832716
Chromosome Location	chr7:129106388-129106389
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129099938..129101762-chr7:129105861..129110289,3	K562	blood:
2	chr7:129070406..129072792-chr7:129104561..129108089,3	MCF-7	breast:
3	chr7:129071464..129074294-chr7:129104597..129106505,2	K562	blood:
4	chr7:129099938..129101762-chr7:129105861..129111774,4	K562	blood:

Variant related genes	Relation type
ENSG00000128578	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11768964	0.83[EUR][1000 genomes]
rs1272593	0.88[EUR][1000 genomes]
rs581829	0.88[EUR][1000 genomes]
rs613068	0.80[EUR][1000 genomes]
rs613169	0.80[EUR][1000 genomes]
rs632505	0.86[EUR][1000 genomes]
rs639605	0.82[EUR][1000 genomes]
rs655239	0.83[EUR][1000 genomes]
rs656981	0.83[EUR][1000 genomes]
rs666499	0.88[EUR][1000 genomes]
rs676947	0.83[EUR][1000 genomes]
rs690872	0.85[EUR][1000 genomes]
rs690903	1.00[EUR][1000 genomes]
rs692132	0.83[EUR][1000 genomes]
rs692248	0.88[EUR][1000 genomes]
rs692686	0.85[EUR][1000 genomes]
rs692695	0.88[EUR][1000 genomes]
rs712692	0.85[EUR][1000 genomes]
rs712693	0.85[EUR][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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129075200-129108400	Weak transcription	Gastric	stomach
2	chr7:129076000-129110000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr7:129077400-129109400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:129079600-129107200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:129079800-129106400	Weak transcription	NHDF-Ad	bronchial
6	chr7:129080000-129128000	Weak transcription	HUVEC	blood vessel
7	chr7:129082600-129108400	Weak transcription	Thymus	Thymus
8	chr7:129083800-129112800	Strong transcription	K562	blood
9	chr7:129089200-129106600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:129089400-129108400	Weak transcription	Fetal Lung	lung
11	chr7:129089400-129110000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:129089600-129106400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:129089600-129110200	Weak transcription	Brain Substantia Nigra	brain
14	chr7:129091600-129109200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:129091800-129108800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:129092600-129109200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:129092800-129106800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:129093200-129109400	Weak transcription	Fetal Thymus	thymus
19	chr7:129093400-129134800	Weak transcription	Right Atrium	heart
20	chr7:129094800-129107400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:129094800-129107800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:129094800-129108200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:129095000-129107800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:129095200-129111800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:129095400-129109800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:129095400-129115000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:129096400-129109200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:129096800-129108400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:129096800-129110200	Weak transcription	Small Intestine	intestine
30	chr7:129096800-129112000	Weak transcription	GM12878-XiMat	blood
31	chr7:129097200-129110200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:129097600-129128600	Weak transcription	NH-A	brain
33	chr7:129099000-129107800	Weak transcription	Brain Germinal Matrix	brain
34	chr7:129100400-129113000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:129100600-129106600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:129100800-129106400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:129100800-129107600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:129101000-129109400	Weak transcription	Brain Angular Gyrus	brain
39	chr7:129101400-129109600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:129101600-129128600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:129102200-129124600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:129102400-129108200	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr7:129102400-129120400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:129103000-129117400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:129103000-129141200	Weak transcription	Hela-S3	cervix
46	chr7:129103200-129106600	Weak transcription	Osteobl	bone
47	chr7:129103200-129107800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:129103200-129110000	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:129103200-129129600	Weak transcription	Dnd41	blood
50	chr7:129103200-129135400	Weak transcription	HepG2	liver

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