Variant report

Variant	rs73196609
Chromosome Location	chr7:86526792-86526793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr7:86526620-86526794	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
KIAA1324L	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs55815526	1.00[AMR][1000 genomes]
rs73196616	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025032	chr7:86032479-86642973	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv1015870	chr7:86490491-86802320	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv539000	chr7:86490491-86802320	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
7	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv967462	chr7:86520074-86528959	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86495200-86542000	Weak transcription	Brain Substantia Nigra	brain
2	chr7:86495800-86550000	Weak transcription	Lung	lung
3	chr7:86498400-86576200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:86507000-86553200	Weak transcription	Pancreas	Pancrea
5	chr7:86507400-86561400	Weak transcription	Aorta	Aorta
6	chr7:86508000-86551200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:86508000-86560800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:86508000-86566800	Weak transcription	Brain Anterior Caudate	brain
9	chr7:86508800-86542200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:86510800-86526800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:86510800-86543800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:86512600-86545000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:86513200-86528800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:86516000-86556400	Weak transcription	Fetal Stomach	stomach
15	chr7:86517000-86541000	Weak transcription	HUVEC	blood vessel
16	chr7:86517200-86532800	Weak transcription	Right Ventricle	heart
17	chr7:86517600-86528200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:86518000-86529000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr7:86518000-86568800	Weak transcription	Psoas Muscle	Psoas
20	chr7:86518000-86577000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:86518200-86529200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:86518600-86527000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:86518600-86528800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:86518600-86542800	Weak transcription	K562	blood
25	chr7:86520800-86528800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:86521000-86576400	Weak transcription	Hela-S3	cervix
27	chr7:86522200-86540800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:86522200-86540800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:86522400-86542800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:86522600-86529800	Weak transcription	Brain Hippocampus Middle	brain
31	chr7:86523200-86529400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:86524400-86527200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:86524400-86528400	Strong transcription	Adipose Nuclei	Adipose
34	chr7:86524400-86538200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:86524800-86527400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr7:86525600-86527000	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr7:86525600-86527200	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr7:86525600-86527200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:86525600-86527200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:86525600-86527600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:86525800-86527400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:86526000-86530400	Weak transcription	Brain Angular Gyrus	brain
43	chr7:86526000-86533200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:86526400-86527200	Strong transcription	Left Ventricle	heart
45	chr7:86526600-86527200	Strong transcription	Brain Cingulate Gyrus	brain

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