Variant report

Variant	rs17169087
Chromosome Location	chr7:129098811-129098812
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:129063023..129065815-chr7:129098369..129100932,2	K562	blood:

Variant related genes	Relation type
ENSG00000158467	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12112383	1.00[EUR][1000 genomes]
rs17168678	1.00[EUR][1000 genomes]
rs1732008	1.00[EUR][1000 genomes]
rs35714254	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6953498	1.00[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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129075200-129100600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:129075200-129108400	Weak transcription	Gastric	stomach
3	chr7:129075400-129102800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:129075400-129105800	Weak transcription	Ovary	ovary
5	chr7:129076000-129110000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:129077400-129109400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:129079600-129107200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:129079800-129106400	Weak transcription	NHDF-Ad	bronchial
9	chr7:129080000-129104800	Weak transcription	A549	lung
10	chr7:129080000-129128000	Weak transcription	HUVEC	blood vessel
11	chr7:129080600-129101800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:129082600-129108400	Weak transcription	Thymus	Thymus
13	chr7:129083800-129112800	Strong transcription	K562	blood
14	chr7:129085800-129103600	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:129087600-129103600	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:129088800-129099800	Weak transcription	HSMMtube	muscle
17	chr7:129089200-129106600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:129089400-129099400	Weak transcription	Spleen	Spleen
19	chr7:129089400-129102600	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:129089400-129108400	Weak transcription	Fetal Lung	lung
21	chr7:129089400-129110000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:129089600-129106400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:129089600-129110200	Weak transcription	Brain Substantia Nigra	brain
24	chr7:129091400-129104000	Strong transcription	Brain Anterior Caudate	brain
25	chr7:129091600-129109200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:129091800-129108800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:129092600-129109200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:129092800-129106800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:129093200-129109400	Weak transcription	Fetal Thymus	thymus
30	chr7:129093400-129100200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:129093400-129105600	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr7:129093400-129134800	Weak transcription	Right Atrium	heart
33	chr7:129093800-129101600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:129093800-129101800	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr7:129094000-129105200	Strong transcription	Fetal Muscle Leg	muscle
36	chr7:129094200-129100400	Strong transcription	HepG2	liver
37	chr7:129094200-129100600	Weak transcription	Brain Angular Gyrus	brain
38	chr7:129094600-129102200	Weak transcription	Fetal Intestine Small	intestine
39	chr7:129094800-129101000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:129094800-129104800	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr7:129094800-129107400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:129094800-129107800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:129094800-129108200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:129095000-129100800	Strong transcription	Dnd41	blood
45	chr7:129095000-129105600	Strong transcription	HMEC	breast
46	chr7:129095000-129105800	Strong transcription	NHEK	skin
47	chr7:129095000-129107800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:129095200-129101000	Strong transcription	NHLF	lung
49	chr7:129095200-129104600	Strong transcription	Left Ventricle	heart
50	chr7:129095200-129111800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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