Variant report

Variant	rs6954743
Chromosome Location	chr7:140287598-140287599
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	chr7:140285688..140288608-chr7:140322285..140325056,3	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57561934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57570112	0.83[AMR][1000 genomes]
rs61369053	0.89[EUR][1000 genomes]
rs6943180	1.00[EUR][1000 genomes]
rs6958806	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6971144	0.89[EUR][1000 genomes]
rs73498497	0.89[EUR][1000 genomes]
rs73736619	0.83[AMR][1000 genomes];0.89[EUR][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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140247000-140297400	Weak transcription	Spleen	Spleen
2	chr7:140263800-140303600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:140263800-140303600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:140263800-140305200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:140263800-140305600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:140264600-140290400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:140265200-140304400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:140267800-140290600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:140267800-140291200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:140267800-140300800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:140267800-140326000	Weak transcription	Gastric	stomach
12	chr7:140269400-140306600	Weak transcription	Right Atrium	heart
13	chr7:140274000-140301400	Weak transcription	Right Ventricle	heart
14	chr7:140276400-140288200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:140276600-140287800	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:140276600-140296200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:140276800-140291400	Strong transcription	Fetal Stomach	stomach
18	chr7:140279400-140288000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:140279600-140287800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:140279800-140302000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:140280600-140288400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:140281000-140287600	Strong transcription	Stomach Smooth Muscle	stomach
23	chr7:140281000-140288400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:140281200-140288200	Strong transcription	Brain Germinal Matrix	brain
25	chr7:140281400-140294600	Weak transcription	Fetal Intestine Small	intestine
26	chr7:140281600-140306400	Weak transcription	Brain Angular Gyrus	brain
27	chr7:140281800-140304200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:140284200-140287600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:140284200-140287600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:140284200-140287600	Strong transcription	Adipose Nuclei	Adipose
31	chr7:140284200-140287600	Strong transcription	Fetal Brain Female	brain
32	chr7:140284200-140287600	Strong transcription	Placenta	Placenta
33	chr7:140284200-140287600	Strong transcription	Ovary	ovary
34	chr7:140284400-140287600	Strong transcription	Brain Cingulate Gyrus	brain
35	chr7:140284600-140287600	Strong transcription	Brain Substantia Nigra	brain
36	chr7:140285000-140287600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:140285200-140287600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:140285200-140287600	Strong transcription	NHLF	lung
39	chr7:140285800-140287600	Enhancers	Fetal Brain Male	brain
40	chr7:140285800-140297400	Weak transcription	NHDF-Ad	bronchial
41	chr7:140285800-140301400	Weak transcription	Left Ventricle	heart
42	chr7:140285800-140306400	Weak transcription	Colon Smooth Muscle	Colon
43	chr7:140286000-140304000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr7:140286600-140288000	Strong transcription	Fetal Lung	lung
45	chr7:140286600-140299800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr7:140286600-140300000	Weak transcription	Fetal Intestine Large	intestine
47	chr7:140286800-140287600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
48	chr7:140286800-140287600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:140287000-140288000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:140287000-140299600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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