Variant report

Variant	rs2062317
Chromosome Location	chr7:140284834-140284835
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140277680..140279643-chr7:140283946..140286058,2	MCF-7	breast:
2	chr7:140283049..140285377-chr7:140334649..140337248,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs269249	1.00[ASN][1000 genomes]
rs73483908	1.00[AMR][1000 genomes]
rs73498495	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498501	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7776899	1.00[ASN][1000 genomes]
rs7794206	1.00[ASN][1000 genomes]
rs9942679	1.00[AFR][1000 genomes];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	esv1802929	chr7:140212566-140285491	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	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
3	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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140247000-140297400	Weak transcription	Spleen	Spleen
2	chr7:140263800-140286800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:140263800-140303600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:140263800-140303600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:140263800-140305200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:140263800-140305600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:140264600-140290400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:140265200-140304400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:140266400-140285200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:140267800-140285000	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:140267800-140285000	Weak transcription	NH-A	brain
12	chr7:140267800-140290600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:140267800-140291200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:140267800-140300800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:140267800-140326000	Weak transcription	Gastric	stomach
16	chr7:140269400-140306600	Weak transcription	Right Atrium	heart
17	chr7:140272200-140287000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:140273600-140285000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:140273800-140285800	Weak transcription	Fetal Brain Male	brain
20	chr7:140274000-140285200	Weak transcription	Fetal Intestine Large	intestine
21	chr7:140274000-140301400	Weak transcription	Right Ventricle	heart
22	chr7:140276400-140288200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:140276600-140287800	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:140276600-140296200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:140276800-140287000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:140276800-140287200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:140276800-140291400	Strong transcription	Fetal Stomach	stomach
28	chr7:140277800-140287000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:140278800-140287000	Weak transcription	Fetal Heart	heart
30	chr7:140279400-140288000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:140279600-140287800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:140279800-140302000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr7:140280600-140288400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:140281000-140287600	Strong transcription	Stomach Smooth Muscle	stomach
35	chr7:140281000-140288400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:140281200-140288200	Strong transcription	Brain Germinal Matrix	brain
37	chr7:140281400-140294600	Weak transcription	Fetal Intestine Small	intestine
38	chr7:140281600-140285000	Weak transcription	Brain Anterior Caudate	brain
39	chr7:140281600-140285200	Weak transcription	NHDF-Ad	bronchial
40	chr7:140281600-140287000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:140281600-140306400	Weak transcription	Brain Angular Gyrus	brain
42	chr7:140281800-140286200	Strong transcription	Fetal Muscle Leg	muscle
43	chr7:140281800-140287400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:140281800-140304200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:140282600-140285000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:140282600-140285000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr7:140282600-140285200	Weak transcription	Left Ventricle	heart
48	chr7:140282600-140285200	Weak transcription	NHLF	lung
49	chr7:140282600-140287000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr7:140284000-140287000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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