Variant report

Variant	rs10230417
Chromosome Location	chr7:140251595-140251596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10227057	1.00[AMR][1000 genomes]
rs10230408	1.00[AMR][1000 genomes]
rs10242266	1.00[AMR][1000 genomes]
rs10245737	1.00[AMR][1000 genomes]
rs10275505	1.00[AMR][1000 genomes]
rs28653484	1.00[AMR][1000 genomes]
rs28707559	0.91[AFR][1000 genomes];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	esv1803443	chr7:140146694-140263109	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140226200-140262800	Weak transcription	Gastric	stomach
2	chr7:140241400-140257800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:140241800-140257800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:140242000-140268000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:140242200-140256400	Weak transcription	Fetal Brain Male	brain
6	chr7:140242400-140263800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:140242800-140251600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:140242800-140252600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:140242800-140253400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr7:140242800-140257800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:140242800-140258800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:140242800-140266800	Weak transcription	Lung	lung
13	chr7:140242800-140266800	Weak transcription	Right Atrium	heart
14	chr7:140243000-140251600	Strong transcription	Fetal Stomach	stomach
15	chr7:140243000-140252600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:140243000-140262600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:140243200-140252200	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:140243200-140253000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:140244800-140266800	Weak transcription	Liver	Liver
20	chr7:140245200-140251800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:140245400-140266800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:140245800-140257000	Weak transcription	Brain Anterior Caudate	brain
23	chr7:140245800-140257600	Weak transcription	Brain Angular Gyrus	brain
24	chr7:140245800-140257600	Weak transcription	Brain Germinal Matrix	brain
25	chr7:140246000-140251800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:140246000-140258800	Weak transcription	Brain Substantia Nigra	brain
27	chr7:140246200-140253200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:140246800-140251600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:140246800-140251600	Weak transcription	Right Ventricle	heart
30	chr7:140246800-140257800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:140246800-140257800	Weak transcription	Placenta	Placenta
32	chr7:140247000-140251600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:140247000-140251600	Weak transcription	Ovary	ovary
34	chr7:140247000-140254000	Weak transcription	Adipose Nuclei	Adipose
35	chr7:140247000-140255200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr7:140247000-140257000	Weak transcription	Fetal Intestine Large	intestine
37	chr7:140247000-140257000	Weak transcription	Fetal Intestine Small	intestine
38	chr7:140247000-140257600	Weak transcription	Left Ventricle	heart
39	chr7:140247000-140257800	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:140247000-140276400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr7:140247000-140297400	Weak transcription	Spleen	Spleen
42	chr7:140247200-140251800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:140247200-140262600	Weak transcription	NH-A	brain
44	chr7:140247400-140251600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:140247400-140256600	Weak transcription	Fetal Lung	lung
46	chr7:140247800-140256600	Weak transcription	Fetal Kidney	kidney
47	chr7:140247800-140256800	Weak transcription	NHDF-Ad	bronchial
48	chr7:140248000-140251600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:140250400-140251600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:140250600-140251600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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