Variant report

Variant	rs73438181
Chromosome Location	chr7:69267194-69267195
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	chr7:69265403..69267414-chr7:69267477..69269230,2	MCF-7	breast:
2	chr7:69260382..69262586-chr7:69265583..69267401,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56694288	0.82[AFR][1000 genomes]
rs57241243	1.00[AFR][1000 genomes]
rs59534094	1.00[AFR][1000 genomes]
rs60614607	0.88[AFR][1000 genomes]
rs73429426	0.87[AFR][1000 genomes]
rs73429443	0.94[AFR][1000 genomes]
rs73429444	0.94[AFR][1000 genomes]
rs73429445	0.94[AFR][1000 genomes]
rs73429447	0.94[AFR][1000 genomes]
rs73429449	0.94[AFR][1000 genomes]
rs73429456	0.82[AFR][1000 genomes]
rs73429468	0.88[AFR][1000 genomes]
rs73432138	0.82[AFR][1000 genomes]
rs73432140	0.82[AFR][1000 genomes]
rs73438192	1.00[AFR][1000 genomes]
rs73440124	0.94[AFR][1000 genomes]
rs73440130	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69249800-69269600	Weak transcription	Brain Angular Gyrus	brain
2	chr7:69253400-69278800	Weak transcription	Fetal Stomach	stomach
3	chr7:69255000-69276600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:69259000-69269200	Weak transcription	Fetal Brain Male	brain
5	chr7:69262200-69268400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr7:69264400-69267200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:69264400-69267400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:69264400-69268200	Enhancers	Fetal Heart	heart
9	chr7:69264400-69268400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:69264400-69268400	Enhancers	Adipose Nuclei	Adipose
11	chr7:69264400-69268800	Enhancers	Fetal Intestine Small	intestine
12	chr7:69264600-69268800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr7:69265000-69267600	Enhancers	Placenta	Placenta
14	chr7:69265000-69270400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:69265200-69267800	Enhancers	Ovary	ovary
16	chr7:69265200-69268400	Enhancers	Fetal Intestine Large	intestine
17	chr7:69265400-69267200	Enhancers	Rectal Smooth Muscle	rectum
18	chr7:69265800-69268800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:69265800-69269600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:69265800-69269600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:69265800-69273000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:69265800-69273600	Weak transcription	HSMMtube	muscle
23	chr7:69265800-69282600	Weak transcription	Pancreas	Pancrea
24	chr7:69266000-69268000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:69266000-69270000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr7:69266000-69270000	Weak transcription	Fetal Lung	lung
27	chr7:69266000-69270600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:69266200-69267200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:69266200-69267600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:69266200-69276600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:69266600-69267200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:69266600-69267400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:69266600-69267600	Enhancers	Colon Smooth Muscle	Colon
34	chr7:69266600-69268000	Enhancers	GM12878-XiMat	blood
35	chr7:69266800-69267200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:69266800-69267200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr7:69266800-69267200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:69266800-69267200	Enhancers	Fetal Muscle Leg	muscle
39	chr7:69266800-69267200	Enhancers	Fetal Thymus	thymus
40	chr7:69266800-69267200	Enhancers	Left Ventricle	heart
41	chr7:69266800-69267200	Enhancers	Psoas Muscle	Psoas
42	chr7:69266800-69267400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:69266800-69267400	Enhancers	Right Atrium	heart
44	chr7:69266800-69268000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr7:69266800-69268200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:69267000-69267200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr7:69267000-69267200	Enhancers	Small Intestine	intestine
48	chr7:69267000-69269800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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