Variant report

Variant	rs28480046
Chromosome Location	chr7:129398521-129398522
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129388926..129391795-chr7:129396383..129398661,2	MCF-7	breast:
2	chr7:129397077..129398771-chr7:129415899..129417473,2	MCF-7	breast:
3	chr7:129398154..129400478-chr7:129410669..129413276,2	MCF-7	breast:
4	chr7:129398187..129403066-chr7:129413314..129416279,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207691	Chromatin interaction
ENSG00000199158	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10224702	0.96[ASN][1000 genomes]
rs10234904	0.96[ASN][1000 genomes]
rs10238665	0.94[ASN][1000 genomes]
rs10250715	0.94[ASN][1000 genomes]
rs10258498	0.95[ASN][1000 genomes]
rs12670479	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2402964	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56099086	0.80[ASN][1000 genomes]
rs6955093	0.94[ASN][1000 genomes]
rs73159622	0.82[EUR][1000 genomes]
rs7777812	0.95[ASN][1000 genomes]
rs7792411	0.80[ASN][1000 genomes]
rs7796553	0.95[ASN][1000 genomes]
rs7797729	0.80[ASN][1000 genomes]
rs7800226	0.87[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	esv1813824	chr7:129379450-129424461	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	364 gene(s)	inside rSNPs	diseases
2	esv14232	chr7:129379923-129445465	Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
3	nsv516024	chr7:129387380-129444951	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
4	esv1817678	chr7:129394447-129424461	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	364 gene(s)	inside rSNPs	diseases
5	nsv464721	chr7:129397644-129444951	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
6	nsv608420	chr7:129397644-129444951	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129366800-129399400	Weak transcription	Fetal Kidney	kidney
2	chr7:129369600-129399400	Weak transcription	Fetal Brain Male	brain
3	chr7:129372400-129398800	Weak transcription	NHLF	lung
4	chr7:129379800-129400400	Weak transcription	HSMM	muscle
5	chr7:129380000-129406600	Weak transcription	HSMMtube	muscle
6	chr7:129381800-129404200	Weak transcription	HepG2	liver
7	chr7:129381800-129415600	Weak transcription	Pancreas	Pancrea
8	chr7:129382400-129408600	Weak transcription	Right Atrium	heart
9	chr7:129382400-129408800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:129382600-129407000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:129382800-129411400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:129383800-129401000	Weak transcription	Osteobl	bone
13	chr7:129385400-129399200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:129387600-129399200	Weak transcription	Fetal Lung	lung
15	chr7:129388600-129399000	Strong transcription	Fetal Stomach	stomach
16	chr7:129392000-129400000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:129392200-129404000	Weak transcription	K562	blood
18	chr7:129392400-129404200	Weak transcription	NHEK	skin
19	chr7:129392400-129404400	Weak transcription	HMEC	breast
20	chr7:129396000-129413600	Weak transcription	A549	lung
21	chr7:129396200-129398600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:129396200-129398800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:129396200-129407000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:129396400-129398800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:129396400-129399000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:129396400-129399200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:129396400-129399400	Weak transcription	Aorta	Aorta
28	chr7:129396400-129399400	Weak transcription	Ovary	ovary
29	chr7:129396400-129399600	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:129396400-129402200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:129396400-129402600	Weak transcription	Gastric	stomach
32	chr7:129396400-129405600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:129396400-129407000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:129396400-129407200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:129396400-129408800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:129396400-129408800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:129396600-129398600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr7:129396600-129399000	Weak transcription	Spleen	Spleen
39	chr7:129396600-129400400	Weak transcription	Fetal Brain Female	brain
40	chr7:129396600-129401400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:129396600-129405600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr7:129396600-129407000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:129396600-129407000	Weak transcription	Fetal Muscle Leg	muscle
44	chr7:129396600-129412200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr7:129396600-129416600	Weak transcription	Esophagus	oesophagus
46	chr7:129397000-129398600	Weak transcription	Liver	Liver
47	chr7:129397000-129399200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr7:129397000-129399200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:129397000-129399400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:129397000-129399400	Weak transcription	Brain Inferior Temporal Lobe	brain

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