Variant report

Variant	rs73483942
Chromosome Location	chr7:140275995-140275996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140263504..140266275-chr7:140275601..140278074,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1568640	1.00[AMR][1000 genomes]
rs58620263	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60480710	1.00[AMR][1000 genomes]
rs60847193	1.00[AMR][1000 genomes]
rs73483934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73485799	0.80[AFR][1000 genomes]
rs73487622	0.85[AFR][1000 genomes]
rs73487670	1.00[AFR][1000 genomes]
rs73491542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491552	1.00[AMR][1000 genomes]
rs73491556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491591	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491595	1.00[AMR][1000 genomes]
rs73500429	1.00[AMR][1000 genomes]
rs73502154	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802929	chr7:140212566-140285491	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1021133	chr7:140270797-140338653	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140247000-140276400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr7:140247000-140297400	Weak transcription	Spleen	Spleen
3	chr7:140261800-140284000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:140263400-140278400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:140263800-140276000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:140263800-140277800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:140263800-140286800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:140263800-140303600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:140263800-140303600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:140263800-140305200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:140263800-140305600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:140264600-140290400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:140265200-140304400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:140266400-140285200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:140267600-140281000	Strong transcription	Fetal Muscle Leg	muscle
16	chr7:140267800-140281000	Weak transcription	Brain Angular Gyrus	brain
17	chr7:140267800-140281200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:140267800-140283000	Weak transcription	Liver	Liver
19	chr7:140267800-140285000	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:140267800-140285000	Weak transcription	NH-A	brain
21	chr7:140267800-140290600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:140267800-140291200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:140267800-140300800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:140267800-140326000	Weak transcription	Gastric	stomach
25	chr7:140268400-140281000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:140268400-140281000	Strong transcription	Fetal Muscle Trunk	muscle
27	chr7:140268600-140278200	Weak transcription	Fetal Heart	heart
28	chr7:140269400-140282000	Weak transcription	Lung	lung
29	chr7:140269400-140306600	Weak transcription	Right Atrium	heart
30	chr7:140272200-140287000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:140273600-140281400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr7:140273600-140284200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:140273600-140285000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:140273800-140277400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:140273800-140280800	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:140273800-140281000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:140273800-140281200	Weak transcription	Left Ventricle	heart
38	chr7:140273800-140281400	Weak transcription	Brain Anterior Caudate	brain
39	chr7:140273800-140282200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:140273800-140285800	Weak transcription	Fetal Brain Male	brain
41	chr7:140274000-140281000	Weak transcription	Brain Substantia Nigra	brain
42	chr7:140274000-140281200	Weak transcription	Fetal Brain Female	brain
43	chr7:140274000-140281400	Weak transcription	NHDF-Ad	bronchial
44	chr7:140274000-140284200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:140274000-140284800	Weak transcription	Fetal Kidney	kidney
46	chr7:140274000-140285200	Weak transcription	Fetal Intestine Large	intestine
47	chr7:140274000-140301400	Weak transcription	Right Ventricle	heart
48	chr7:140274200-140281000	Weak transcription	Adipose Nuclei	Adipose
49	chr7:140274200-140281000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr7:140274200-140281200	Weak transcription	Brain Germinal Matrix	brain

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