Variant report

Variant	rs10280863
Chromosome Location	chr7:127505577-127505578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127504525..127507038-chr7:127512709..127514558,2	MCF-7	breast:
2	chr7:127494426..127496522-chr7:127505539..127507746,2	K562	blood:
3	chr7:127505544..127508080-chr7:127509583..127511619,2	K562	blood:
4	chr7:127498109..127501021-chr7:127504531..127508086,4	K562	blood:

Variant related genes	Relation type
ENSG00000240579	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10226394	0.91[EUR][1000 genomes]
rs10239440	0.86[AMR][1000 genomes]
rs10246505	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10249616	0.86[AMR][1000 genomes]
rs10265516	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1035295	0.90[EUR][1000 genomes]
rs11765620	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11767317	0.87[ASN][1000 genomes]
rs11773160	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1440972	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3757764	0.92[EUR][1000 genomes]
rs3757768	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3808080	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3808081	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3808083	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3808089	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4473953	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57103099	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467152	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6943219	0.83[ASN][1000 genomes]
rs6943385	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6947779	0.88[ASN][1000 genomes]
rs6953134	0.90[ASN][1000 genomes]
rs6965698	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6969353	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6976887	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73450923	0.83[ASN][1000 genomes]
rs7778413	0.90[ASN][1000 genomes]
rs7781189	0.81[AFR][1000 genomes]
rs7783102	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783478	0.83[ASN][1000 genomes]
rs7786786	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7792695	0.83[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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127485000-127512000	Weak transcription	Aorta	Aorta
2	chr7:127485200-127527800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:127485600-127522000	Weak transcription	Placenta	Placenta
4	chr7:127485800-127515200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:127488200-127516400	Weak transcription	HMEC	breast
6	chr7:127488400-127506000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:127488600-127510000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr7:127488600-127515400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:127489600-127508000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:127490200-127512200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr7:127490400-127506600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:127491200-127512200	Weak transcription	A549	lung
13	chr7:127491400-127515400	Weak transcription	NH-A	brain
14	chr7:127491400-127527800	Weak transcription	Liver	Liver
15	chr7:127492000-127507400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:127494000-127515400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:127496600-127519400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:127497000-127506000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:127498400-127509000	Weak transcription	Left Ventricle	heart
20	chr7:127498600-127505600	Weak transcription	Lung	lung
21	chr7:127498600-127525000	Weak transcription	Fetal Intestine Small	intestine
22	chr7:127498800-127506000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:127498800-127509200	Weak transcription	Right Ventricle	heart
24	chr7:127498800-127513400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:127498800-127519400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:127498800-127521800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr7:127498800-127524600	Weak transcription	Gastric	stomach
28	chr7:127498800-127525600	Weak transcription	Fetal Stomach	stomach
29	chr7:127499000-127512400	Weak transcription	Fetal Intestine Large	intestine
30	chr7:127499600-127511600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:127500200-127521800	Weak transcription	Pancreas	Pancrea
32	chr7:127500200-127535400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr7:127500400-127515000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr7:127500400-127527800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr7:127500400-127527800	Weak transcription	Dnd41	blood
36	chr7:127500400-127528000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:127500600-127508000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:127500600-127515000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:127500600-127517400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:127500600-127527400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr7:127501000-127527800	Weak transcription	Fetal Thymus	thymus
42	chr7:127502600-127506800	Strong transcription	K562	blood
43	chr7:127503000-127513800	Weak transcription	Fetal Lung	lung
44	chr7:127503000-127524400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:127503200-127505600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr7:127503400-127510200	Weak transcription	Psoas Muscle	Psoas
47	chr7:127503400-127517600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:127503600-127506400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:127503800-127508200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr7:127504000-127507200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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