Variant report

Variant	rs73438192
Chromosome Location	chr7:69278612-69278613
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56694288	0.82[AFR][1000 genomes]
rs57241243	1.00[AFR][1000 genomes]
rs59534094	1.00[AFR][1000 genomes]
rs60614607	0.88[AFR][1000 genomes]
rs73429426	0.87[AFR][1000 genomes]
rs73429443	0.94[AFR][1000 genomes]
rs73429444	0.94[AFR][1000 genomes]
rs73429445	0.94[AFR][1000 genomes]
rs73429447	0.94[AFR][1000 genomes]
rs73429449	0.94[AFR][1000 genomes]
rs73429456	0.82[AFR][1000 genomes]
rs73429468	0.88[AFR][1000 genomes]
rs73432138	0.82[AFR][1000 genomes]
rs73432140	0.82[AFR][1000 genomes]
rs73438181	1.00[AFR][1000 genomes]
rs73440124	0.94[AFR][1000 genomes]
rs73440130	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69253400-69278800	Weak transcription	Fetal Stomach	stomach
2	chr7:69265800-69282600	Weak transcription	Pancreas	Pancrea
3	chr7:69267800-69279200	Weak transcription	Ovary	ovary
4	chr7:69270200-69278800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:69270200-69279000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:69271200-69278800	Weak transcription	Fetal Brain Male	brain
7	chr7:69273800-69278800	Weak transcription	NH-A	brain
8	chr7:69275000-69279400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:69275200-69279400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:69275600-69279000	Enhancers	Fetal Intestine Small	intestine
11	chr7:69276600-69279800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:69276800-69279400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:69276800-69280000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:69276800-69282800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:69277200-69279200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:69277200-69279200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:69277200-69279400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:69277200-69279400	Enhancers	Colon Smooth Muscle	Colon
19	chr7:69277200-69282400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:69277400-69279000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:69277600-69279000	Enhancers	Brain Hippocampus Middle	brain
22	chr7:69277600-69279400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:69277800-69279000	Enhancers	Fetal Thymus	thymus
24	chr7:69277800-69279000	Enhancers	GM12878-XiMat	blood
25	chr7:69277800-69279600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr7:69277800-69280000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:69277800-69280000	Enhancers	Fetal Lung	lung
28	chr7:69277800-69283200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:69277800-69285000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr7:69277800-69285000	Enhancers	Fetal Heart	heart
31	chr7:69277800-69286200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:69278000-69278800	Enhancers	NHDF-Ad	bronchial
33	chr7:69278000-69279400	Enhancers	Stomach Smooth Muscle	stomach
34	chr7:69278000-69279600	Enhancers	Brain Substantia Nigra	brain
35	chr7:69278000-69279800	Enhancers	Brain Angular Gyrus	brain
36	chr7:69278000-69280000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:69278000-69280000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr7:69278000-69280200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:69278200-69278800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:69278200-69279200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:69278200-69279200	Enhancers	Brain Cingulate Gyrus	brain
42	chr7:69278200-69279400	Enhancers	Brain Germinal Matrix	brain
43	chr7:69278200-69279400	Weak transcription	Psoas Muscle	Psoas
44	chr7:69278200-69280000	Enhancers	Fetal Muscle Leg	muscle
45	chr7:69278200-69280000	Enhancers	Right Atrium	heart
46	chr7:69278400-69279200	Enhancers	Brain Anterior Caudate	brain
47	chr7:69278400-69279400	Weak transcription	Placenta	Placenta
48	chr7:69278400-69279600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:69278400-69279800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:69278400-69280200	Enhancers	Fetal Brain Female	brain

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