Variant report

Variant	rs269249
Chromosome Location	chr7:140337460-140337461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140330889..140333777-chr7:140334738..140338747,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2062317	1.00[ASN][1000 genomes]
rs269248	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7776899	1.00[ASN][1000 genomes]
rs7777655	1.00[AMR][1000 genomes]
rs7793009	0.83[AMR][1000 genomes]
rs7794206	1.00[ASN][1000 genomes]
rs7798295	0.85[AMR][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	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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140326600-140339600	Weak transcription	Esophagus	oesophagus
2	chr7:140327000-140338000	Weak transcription	NH-A	brain
3	chr7:140327800-140338200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:140328800-140337600	Weak transcription	Liver	Liver
5	chr7:140329600-140337600	Weak transcription	Fetal Brain Female	brain
6	chr7:140334400-140338200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:140334400-140339000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:140334800-140337600	Enhancers	Fetal Lung	lung
9	chr7:140334800-140337800	Genic enhancers	Fetal Stomach	stomach
10	chr7:140335200-140337600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:140335200-140337800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:140335200-140337800	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr7:140335200-140339200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:140335200-140339200	Enhancers	Brain Substantia Nigra	brain
15	chr7:140335200-140339200	Enhancers	Placenta	Placenta
16	chr7:140335200-140339400	Enhancers	Brain Angular Gyrus	brain
17	chr7:140335400-140338000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:140335600-140338200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr7:140336000-140337800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:140336000-140339600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:140336200-140337800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:140336200-140338000	Weak transcription	Fetal Brain Male	brain
23	chr7:140336200-140338200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:140336200-140338200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:140336200-140339600	Weak transcription	Pancreas	Pancrea
26	chr7:140336400-140337600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:140336400-140337600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:140336400-140337600	Weak transcription	Brain Anterior Caudate	brain
29	chr7:140336400-140337600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:140336400-140337800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:140336400-140338200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:140336400-140338400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:140336400-140338400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:140336400-140338400	Weak transcription	Right Ventricle	heart
35	chr7:140336400-140339200	Enhancers	Brain Hippocampus Middle	brain
36	chr7:140336400-140339400	Weak transcription	Spleen	Spleen
37	chr7:140336800-140337800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr7:140336800-140338200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr7:140337000-140337800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:140337000-140338000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr7:140337000-140338000	Enhancers	Fetal Kidney	kidney
42	chr7:140337000-140338400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr7:140337000-140338400	Enhancers	Left Ventricle	heart
44	chr7:140337000-140339000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr7:140337000-140339000	Enhancers	Right Atrium	heart
46	chr7:140337000-140339200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr7:140337200-140337600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:140337200-140337600	Bivalent Enhancer	Psoas Muscle	Psoas
49	chr7:140337200-140338200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr7:140337200-140338200	Enhancers	NHLF	lung

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