Variant report

Variant	rs10264061
Chromosome Location	chr7:140302610-140302611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr7:140302494-140302874	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140299787..140302664-chr7:140303935..140306575,2	K562	blood:

Variant related genes	Relation type
DENND2A	TF binding region
ENSG00000146966	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10270838	1.00[EUR][1000 genomes]
rs56942922	0.83[EUR][1000 genomes]
rs57570112	1.00[EUR][1000 genomes]
rs61369053	0.90[EUR][1000 genomes]
rs6947111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6971144	0.90[EUR][1000 genomes]
rs73498497	0.90[EUR][1000 genomes]
rs73500424	1.00[EUR][1000 genomes]
rs73736619	0.90[EUR][1000 genomes]
rs7776899	1.00[EUR][1000 genomes]
rs7787030	1.00[EUR][1000 genomes]
rs7787161	1.00[EUR][1000 genomes]
rs7789961	0.91[EUR][1000 genomes]
rs7794206	1.00[EUR][1000 genomes]
rs7796944	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7811087	1.00[EUR][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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140263800-140303600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:140263800-140303600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:140263800-140305200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:140263800-140305600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:140265200-140304400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:140267800-140326000	Weak transcription	Gastric	stomach
7	chr7:140269400-140306600	Weak transcription	Right Atrium	heart
8	chr7:140281600-140306400	Weak transcription	Brain Angular Gyrus	brain
9	chr7:140281800-140304200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:140285800-140306400	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:140286000-140304000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:140287600-140304800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:140287600-140305600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:140287600-140326000	Weak transcription	Fetal Brain Male	brain
15	chr7:140296000-140326000	Weak transcription	Fetal Heart	heart
16	chr7:140297600-140302800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:140297600-140313600	Weak transcription	Fetal Kidney	kidney
18	chr7:140297800-140304200	Weak transcription	NH-A	brain
19	chr7:140297800-140306800	Weak transcription	Spleen	Spleen
20	chr7:140298800-140305000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:140299200-140306800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:140299600-140302800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:140299600-140303200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:140299800-140302800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:140300400-140305400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:140301800-140305400	Weak transcription	Right Ventricle	heart
27	chr7:140302000-140303000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:140302000-140303200	Weak transcription	Placenta	Placenta
29	chr7:140302000-140303800	Weak transcription	NHDF-Ad	bronchial
30	chr7:140302200-140304000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:140302200-140304000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:140302200-140304000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr7:140302200-140304000	Strong transcription	Fetal Muscle Leg	muscle
34	chr7:140302200-140304200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:140302200-140304400	Weak transcription	Fetal Intestine Small	intestine
36	chr7:140302200-140304800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:140302200-140305000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:140302200-140305200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:140302200-140306200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr7:140302200-140306200	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:140302200-140306400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:140302200-140306400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:140302200-140307000	Weak transcription	Brain Germinal Matrix	brain
44	chr7:140302200-140326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:140302400-140303200	Weak transcription	NHLF	lung
46	chr7:140302400-140303600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:140302400-140303800	Weak transcription	Fetal Stomach	stomach
48	chr7:140302400-140303800	Weak transcription	Ovary	ovary
49	chr7:140302400-140304200	Weak transcription	Fetal Lung	lung
50	chr7:140302400-140304400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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