Variant report

Variant	rs73232939
Chromosome Location	chr7:127503992-127503993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127493526..127496139-chr7:127503216..127505178,2	MCF-7	breast:
2	chr7:127502110..127504704-chr7:127507082..127510314,3	K562	blood:
3	chr7:127489666..127491385-chr7:127502476..127504208,2	K562	blood:
4	chr7:127500387..127502166-chr7:127503833..127505492,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12154534	1.00[ASN][1000 genomes]
rs12533765	1.00[ASN][1000 genomes]
rs12534062	1.00[ASN][1000 genomes]
rs12537331	1.00[ASN][1000 genomes]
rs17151707	1.00[ASN][1000 genomes]
rs17151739	1.00[ASN][1000 genomes]
rs17662898	1.00[ASN][1000 genomes]
rs17732242	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962635	1.00[ASN][1000 genomes]
rs73238088	1.00[ASN][1000 genomes]
rs73239704	1.00[ASN][1000 genomes]
rs73239710	1.00[ASN][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127485000-127512000	Weak transcription	Aorta	Aorta
2	chr7:127485200-127505000	Weak transcription	HUVEC	blood vessel
3	chr7:127485200-127527800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:127485600-127522000	Weak transcription	Placenta	Placenta
5	chr7:127485800-127515200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:127488200-127516400	Weak transcription	HMEC	breast
7	chr7:127488400-127506000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:127488600-127504800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:127488600-127510000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr7:127488600-127515400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:127489600-127508000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:127490200-127512200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr7:127490400-127506600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:127490600-127505400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:127491200-127504800	Weak transcription	HepG2	liver
16	chr7:127491200-127505000	Weak transcription	Primary B cells from cord blood	blood
17	chr7:127491200-127512200	Weak transcription	A549	lung
18	chr7:127491400-127504400	Weak transcription	NHDF-Ad	bronchial
19	chr7:127491400-127505200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:127491400-127515400	Weak transcription	NH-A	brain
21	chr7:127491400-127527800	Weak transcription	Liver	Liver
22	chr7:127491600-127504800	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:127491600-127504800	Weak transcription	Osteobl	bone
24	chr7:127491600-127505000	Weak transcription	NHLF	lung
25	chr7:127492000-127504800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:127492000-127505200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:127492000-127505200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:127492000-127507400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:127494000-127515400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:127496600-127505000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:127496600-127519400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:127497000-127506000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:127497200-127504600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr7:127498000-127505000	Weak transcription	Spleen	Spleen
35	chr7:127498400-127509000	Weak transcription	Left Ventricle	heart
36	chr7:127498600-127504200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:127498600-127505600	Weak transcription	Lung	lung
38	chr7:127498600-127525000	Weak transcription	Fetal Intestine Small	intestine
39	chr7:127498800-127504800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:127498800-127504800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:127498800-127505000	Weak transcription	NHEK	skin
42	chr7:127498800-127506000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:127498800-127509200	Weak transcription	Right Ventricle	heart
44	chr7:127498800-127513400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:127498800-127519400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:127498800-127521800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:127498800-127524600	Weak transcription	Gastric	stomach
48	chr7:127498800-127525600	Weak transcription	Fetal Stomach	stomach
49	chr7:127499000-127512400	Weak transcription	Fetal Intestine Large	intestine
50	chr7:127499400-127504800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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