Variant report

Variant	rs55994200
Chromosome Location	chr7:117470127-117470128
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:117469182..117471688-chr7:117706530..117708485,2	MCF-7	breast:
2	chr7:117461715..117464678-chr7:117467461..117470565,3	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56278833	0.85[AFR][1000 genomes]
rs57627307	0.82[AFR][1000 genomes]
rs57879132	1.00[AMR][1000 genomes]
rs73716398	1.00[AMR][1000 genomes]
rs73716400	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117456600-117478200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:117460000-117474800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:117464400-117470400	Enhancers	Brain Cingulate Gyrus	brain
4	chr7:117464600-117470200	Enhancers	Brain Anterior Caudate	brain
5	chr7:117464600-117470200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr7:117464600-117471800	Enhancers	Brain Substantia Nigra	brain
7	chr7:117465600-117473200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:117467200-117470400	Enhancers	Brain Angular Gyrus	brain
9	chr7:117467200-117471400	Enhancers	NHLF	lung
10	chr7:117467200-117473200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:117467400-117470400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:117467400-117471600	Enhancers	Fetal Lung	lung
13	chr7:117467800-117471400	Enhancers	Colon Smooth Muscle	Colon
14	chr7:117468200-117470800	Enhancers	Fetal Brain Male	brain
15	chr7:117468400-117474600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:117468400-117474800	Weak transcription	Fetal Intestine Small	intestine
17	chr7:117468400-117475000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:117468400-117475000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:117468600-117471200	Weak transcription	Stomach Mucosa	stomach
20	chr7:117468600-117471600	Weak transcription	Gastric	stomach
21	chr7:117468600-117474600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:117469000-117470200	Enhancers	Stomach Smooth Muscle	stomach
23	chr7:117469000-117470400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:117469000-117475200	Weak transcription	Fetal Kidney	kidney
25	chr7:117469000-117503600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:117469200-117475000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:117469400-117470200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:117469400-117470400	Weak transcription	Small Intestine	intestine
29	chr7:117469400-117470800	Enhancers	Brain Germinal Matrix	brain
30	chr7:117469400-117471200	Weak transcription	Pancreas	Pancrea
31	chr7:117469400-117471600	Weak transcription	Esophagus	oesophagus
32	chr7:117469400-117503800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:117469600-117470400	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr7:117469600-117471200	Enhancers	Fetal Brain Female	brain
35	chr7:117469600-117471200	Weak transcription	Ovary	ovary
36	chr7:117469600-117471400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:117469600-117474800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr7:117469600-117511800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:117469800-117470200	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr7:117469800-117470600	Flanking Active TSS	Fetal Heart	heart
41	chr7:117469800-117470600	Weak transcription	Fetal Stomach	stomach
42	chr7:117469800-117470800	Weak transcription	Right Atrium	heart
43	chr7:117469800-117477800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:117469800-117484000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:117469800-117484000	Weak transcription	Aorta	Aorta
46	chr7:117469800-117493800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:117470000-117474000	Weak transcription	NH-A	brain
48	chr7:117470000-117474800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:117470000-117475000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:117470000-117475400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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