Variant report

Variant	rs56942922
Chromosome Location	chr7:140315360-140315361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140314792..140316521-chr7:140318510..140320433,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10264061	0.83[EUR][1000 genomes]
rs10270838	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs269260	1.00[ASN][1000 genomes]
rs57570112	0.83[EUR][1000 genomes]
rs57916123	1.00[ASN][1000 genomes]
rs61369053	1.00[ASN][1000 genomes]
rs6943180	1.00[ASN][1000 genomes]
rs6947111	0.83[EUR][1000 genomes]
rs6971144	1.00[ASN][1000 genomes]
rs73483908	1.00[ASN][1000 genomes]
rs73498495	1.00[ASN][1000 genomes]
rs73498497	1.00[ASN][1000 genomes]
rs73498501	1.00[ASN][1000 genomes]
rs73500409	1.00[ASN][1000 genomes]
rs73500413	1.00[ASN][1000 genomes]
rs73500418	1.00[ASN][1000 genomes]
rs73500424	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73500426	1.00[ASN][1000 genomes]
rs7776899	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7787030	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7787161	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7789961	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794206	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7796944	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811087	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9942679	1.00[ASN][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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140267800-140326000	Weak transcription	Gastric	stomach
2	chr7:140287600-140326000	Weak transcription	Fetal Brain Male	brain
3	chr7:140296000-140326000	Weak transcription	Fetal Heart	heart
4	chr7:140302200-140326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:140302400-140326200	Weak transcription	Fetal Brain Female	brain
6	chr7:140302800-140326000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:140307600-140326000	Weak transcription	Spleen	Spleen
8	chr7:140307800-140316800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:140307800-140320400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:140308000-140320400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:140308400-140324000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:140308800-140322800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:140308800-140323800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:140310800-140320600	Weak transcription	NHDF-Ad	bronchial
15	chr7:140310800-140323800	Weak transcription	Fetal Lung	lung
16	chr7:140310800-140326400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr7:140311000-140320400	Weak transcription	NH-A	brain
18	chr7:140311200-140321600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:140311200-140323600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:140311400-140317000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:140311400-140320400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr7:140311800-140317600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:140312000-140317000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:140312200-140321200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:140312600-140316400	Weak transcription	Placenta	Placenta
26	chr7:140314000-140315400	Strong transcription	Fetal Stomach	stomach
27	chr7:140314000-140317000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:140314000-140318800	Weak transcription	Brain Germinal Matrix	brain
29	chr7:140314200-140316600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:140314400-140315400	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:140314600-140315400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:140314600-140316800	Weak transcription	HSMMtube	muscle
33	chr7:140314600-140317000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:140315000-140317600	Weak transcription	Fetal Muscle Leg	muscle
35	chr7:140315000-140323800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:140315200-140315600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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