Variant report

Variant	rs73718123
Chromosome Location	chr7:112521189-112521190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10233800	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10236439	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10236707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10237085	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10240478	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10241725	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10247997	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10252311	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10259048	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10263057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10269437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10277476	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10279386	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10280036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10280117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10441329	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28378392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28542840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28589798	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28634829	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28832579	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs500280	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59569539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61680362	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73718120	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73718121	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73718124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73718131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73718132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73718133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73718138	1.00[AMR][1000 genomes]
rs73718141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9648966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv5905	chr7:112445425-112521797	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	esv2754368	chr7:112483049-112588049	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112468600-112550000	Weak transcription	Aorta	Aorta
2	chr7:112469800-112529000	Weak transcription	Brain Anterior Caudate	brain
3	chr7:112470800-112533200	Weak transcription	HSMM	muscle
4	chr7:112471800-112545200	Weak transcription	Ovary	ovary
5	chr7:112472000-112524600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:112472600-112533200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:112490800-112533000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:112494200-112532400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr7:112496200-112533400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:112500600-112521200	Weak transcription	Thymus	Thymus
11	chr7:112506800-112533000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:112507400-112556800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:112507800-112529800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:112509400-112521600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:112509400-112523400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:112509400-112532400	Weak transcription	Dnd41	blood
17	chr7:112510200-112521600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:112510600-112525600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:112511400-112524600	Weak transcription	Brain Germinal Matrix	brain
20	chr7:112512800-112533400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:112513000-112522000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:112513800-112526200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:112513800-112533200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:112514600-112521800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:112515200-112521200	Weak transcription	Gastric	stomach
26	chr7:112515200-112521400	Weak transcription	Pancreas	Pancrea
27	chr7:112515200-112534000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr7:112515400-112533000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:112515400-112533400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:112515400-112551000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr7:112516000-112523000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:112516000-112533000	Weak transcription	Fetal Kidney	kidney
33	chr7:112516000-112533200	Weak transcription	Fetal Brain Male	brain
34	chr7:112516000-112537800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr7:112516400-112529600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:112516400-112551000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:112516600-112524800	Weak transcription	Fetal Brain Female	brain
38	chr7:112516800-112521200	Weak transcription	Fetal Intestine Large	intestine
39	chr7:112517000-112522000	Weak transcription	Adipose Nuclei	Adipose
40	chr7:112517200-112529800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:112517800-112521200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr7:112517800-112529400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:112518000-112521600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:112518000-112522000	Weak transcription	Lung	lung
45	chr7:112518000-112529800	Weak transcription	Placenta	Placenta
46	chr7:112518000-112533000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:112518000-112533400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr7:112518000-112534200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:112518200-112521400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:112518200-112523600	Weak transcription	Primary T cells from cord blood	blood

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