Variant report

Variant	rs73491595
Chromosome Location	chr7:140265153-140265154
allele	A/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: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10227869	1.00[EUR][1000 genomes]
rs11973083	1.00[EUR][1000 genomes]
rs11982424	1.00[EUR][1000 genomes]
rs11983453	1.00[EUR][1000 genomes]
rs1568640	1.00[AMR][1000 genomes]
rs269251	1.00[EUR][1000 genomes]
rs269252	1.00[EUR][1000 genomes]
rs269253	1.00[EUR][1000 genomes]
rs269260	1.00[EUR][1000 genomes]
rs55816014	1.00[EUR][1000 genomes]
rs56711326	1.00[EUR][1000 genomes]
rs57565761	1.00[EUR][1000 genomes]
rs57960333	1.00[EUR][1000 genomes]
rs58118476	1.00[EUR][1000 genomes]
rs58620263	1.00[AMR][1000 genomes]
rs59489402	1.00[EUR][1000 genomes]
rs60480710	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60847193	1.00[AMR][1000 genomes]
rs60901124	1.00[EUR][1000 genomes]
rs61333130	1.00[EUR][1000 genomes]
rs61737088	1.00[EUR][1000 genomes]
rs61737090	1.00[EUR][1000 genomes]
rs6952059	1.00[EUR][1000 genomes]
rs6957365	1.00[EUR][1000 genomes]
rs6964971	1.00[EUR][1000 genomes]
rs6964982	1.00[EUR][1000 genomes]
rs6972562	1.00[EUR][1000 genomes]
rs6979290	1.00[EUR][1000 genomes]
rs73483934	1.00[AMR][1000 genomes]
rs73483942	1.00[AMR][1000 genomes]
rs73491542	1.00[AMR][1000 genomes]
rs73491552	1.00[AMR][1000 genomes]
rs73491556	1.00[AMR][1000 genomes]
rs73491570	1.00[AMR][1000 genomes]
rs73491576	1.00[AMR][1000 genomes]
rs73491591	1.00[AMR][1000 genomes]
rs73500429	1.00[AMR][1000 genomes]
rs73502154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73736617	1.00[EUR][1000 genomes]
rs73736622	1.00[EUR][1000 genomes]
rs73736632	1.00[EUR][1000 genomes]
rs73736633	1.00[EUR][1000 genomes]
rs7795017	1.00[EUR][1000 genomes]
rs7804236	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140242000-140268000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:140242800-140266800	Weak transcription	Lung	lung
3	chr7:140242800-140266800	Weak transcription	Right Atrium	heart
4	chr7:140244800-140266800	Weak transcription	Liver	Liver
5	chr7:140245400-140266800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr7:140247000-140276400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:140247000-140297400	Weak transcription	Spleen	Spleen
8	chr7:140251800-140266600	Strong transcription	Fetal Muscle Leg	muscle
9	chr7:140252400-140266200	Strong transcription	Fetal Stomach	stomach
10	chr7:140254000-140266200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:140255200-140267000	Strong transcription	Fetal Muscle Trunk	muscle
12	chr7:140258000-140266800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:140258200-140267400	Weak transcription	Brain Angular Gyrus	brain
14	chr7:140259200-140266600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:140259400-140266200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:140259600-140268200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:140259800-140266800	Weak transcription	Brain Anterior Caudate	brain
18	chr7:140259800-140267400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:140260000-140266600	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:140260200-140266200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr7:140260200-140266200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr7:140260200-140266800	Weak transcription	Right Ventricle	heart
23	chr7:140260200-140273400	Weak transcription	Fetal Brain Male	brain
24	chr7:140261800-140284000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:140262000-140265200	Strong transcription	Ovary	ovary
26	chr7:140262200-140266000	Weak transcription	Fetal Intestine Large	intestine
27	chr7:140262600-140265200	Enhancers	Fetal Kidney	kidney
28	chr7:140262600-140265400	Enhancers	NHDF-Ad	bronchial
29	chr7:140262600-140265600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:140262600-140266400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:140262600-140267800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:140262800-140265800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:140263000-140268600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:140263400-140266800	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:140263400-140267000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:140263400-140278400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:140263800-140265200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:140263800-140265200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:140263800-140266200	Strong transcription	Fetal Lung	lung
40	chr7:140263800-140266400	Enhancers	NHEK	skin
41	chr7:140263800-140266800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:140263800-140270400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr7:140263800-140274800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:140263800-140276000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr7:140263800-140277800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:140263800-140286800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr7:140263800-140303600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr7:140263800-140303600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:140263800-140305200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:140263800-140305600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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