Variant report

Variant	rs269265
Chromosome Location	chr7:140330022-140330023
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1639968	1.00[AMR][1000 genomes]
rs1681774	1.00[AMR][1000 genomes]
rs269229	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs269231	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6974612	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	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
2	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
3	nsv1029128	chr7:140293389-140335570	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140326400-140334800	Weak transcription	Spleen	Spleen
2	chr7:140326600-140335400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:140326600-140335400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:140326600-140335400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:140326600-140335800	Weak transcription	Fetal Intestine Small	intestine
6	chr7:140326600-140337400	Weak transcription	Gastric	stomach
7	chr7:140326600-140339600	Weak transcription	Esophagus	oesophagus
8	chr7:140326800-140331400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:140326800-140331400	Weak transcription	Fetal Heart	heart
10	chr7:140326800-140334800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:140326800-140335200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:140326800-140335400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:140326800-140335400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:140327000-140335200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:140327000-140335200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:140327000-140335200	Weak transcription	Brain Substantia Nigra	brain
17	chr7:140327000-140335400	Weak transcription	Brain Anterior Caudate	brain
18	chr7:140327000-140337000	Weak transcription	Fetal Kidney	kidney
19	chr7:140327000-140338000	Weak transcription	NH-A	brain
20	chr7:140327200-140330600	Weak transcription	Fetal Intestine Large	intestine
21	chr7:140327800-140335600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:140327800-140338200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:140328000-140330800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:140328200-140331000	Weak transcription	Right Atrium	heart
25	chr7:140328200-140331200	Weak transcription	Left Ventricle	heart
26	chr7:140328200-140331200	Weak transcription	Psoas Muscle	Psoas
27	chr7:140328200-140331200	Weak transcription	NHLF	lung
28	chr7:140328200-140331800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:140328200-140334400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr7:140328200-140334800	Weak transcription	Ovary	ovary
31	chr7:140328200-140335200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:140328200-140335200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:140328200-140335200	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:140328200-140335200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr7:140328200-140335200	Weak transcription	Right Ventricle	heart
36	chr7:140328200-140335400	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:140328200-140335400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr7:140328400-140330600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:140328400-140330800	Weak transcription	Fetal Lung	lung
40	chr7:140328400-140330800	Weak transcription	NHDF-Ad	bronchial
41	chr7:140328400-140331000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:140328400-140331000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr7:140328800-140330600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:140328800-140337600	Weak transcription	Liver	Liver
45	chr7:140329000-140331600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:140329200-140330600	Strong transcription	Fetal Muscle Trunk	muscle
47	chr7:140329200-140331800	Weak transcription	Placenta	Placenta
48	chr7:140329400-140330200	Weak transcription	Adipose Nuclei	Adipose
49	chr7:140329400-140330600	Weak transcription	Fetal Stomach	stomach
50	chr7:140329400-140330600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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