Variant report

Variant	rs62491490
Chromosome Location	chr7:129466256-129466257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129247321..129249726-chr7:129464736..129466636,2	MCF-7	breast:
2	chr7:129465763..129467512-chr7:129467735..129470263,2	K562	blood:
3	chr7:129463919..129466418-chr7:129524712..129526599,2	MCF-7	breast:
4	chr7:129301627..129303933-chr7:129464656..129467241,2	K562	blood:
5	chr7:129413756..129415970-chr7:129465026..129467265,2	MCF-7	breast:
6	chr7:129007448..129009199-chr7:129463694..129466275,2	MCF-7	breast:
7	chr7:129466079..129468992-chr7:129649373..129652142,2	MCF-7	breast:
8	chr7:129464687..129467079-chr7:129598257..129600358,2	MCF-7	breast:
9	chr7:129465218..129466979-chr7:129467217..129470017,2	MCF-7	breast:
10	chr7:129250377..129253665-chr7:129464176..129466830,5	MCF-7	breast:
11	chr7:129249743..129252439-chr7:129465240..129468029,3	K562	blood:
12	chr7:129407354..129409161-chr7:129465148..129466728,2	K562	blood:
13	chr7:129465775..129467341-chr7:129472813..129475306,2	MCF-7	breast:
14	chr7:129440650..129441638-chr7:129465622..129466411,2	K562	blood:
15	chr7:129464031..129466452-chr7:129468201..129471315,4	MCF-7	breast:
16	chr7:129302884..129306085-chr7:129464127..129467247,3	MCF-7	breast:
17	chr7:129463253..129467439-chr7:129470010..129474375,4	K562	blood:
18	chr7:129285246..129287176-chr7:129465957..129468026,2	MCF-7	breast:
19	chr7:129380203..129383393-chr7:129464866..129467037,3	MCF-7	breast:
20	chr7:129303698..129305924-chr7:129463932..129466557,2	MCF-7	breast:
21	chr7:129413450..129422592-chr7:129463248..129466944,22	MCF-7	breast:
22	chr7:129465559..129467721-chr7:129591278..129593666,2	MCF-7	breast:
23	chr7:129298070..129300835-chr7:129464702..129466571,2	MCF-7	breast:
24	chr7:129389134..129391918-chr7:129464788..129466826,2	MCF-7	breast:
25	chr7:129418555..129422595-chr7:129463586..129466468,3	K562	blood:
26	chr7:129006840..129007756-chr7:129465394..129466260,2	K562	blood:
27	chr7:129249743..129251861-chr7:129464508..129466740,2	K562	blood:
28	chr7:129465730..129467252-chr7:129505158..129507081,2	MCF-7	breast:
29	chr7:129415990..129422927-chr7:129459994..129470946,26	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000244036	Chromatin interaction
ENSG00000199158	Chromatin interaction
ENSG00000186591	Chromatin interaction
ENSG00000158467	Chromatin interaction
ENSG00000273329	Chromatin interaction
ENSG00000207691	Chromatin interaction
ENSG00000106459	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16873739	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2280680	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2727456	0.95[ASN][1000 genomes]
rs3807118	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3807119	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4728179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4731633	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4731634	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4731636	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62491495	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62491500	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62491519	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62491520	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62491531	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62491534	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62491535	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62491538	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62491540	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62491541	0.93[AMR][1000 genomes];0.86[EUR][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	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129464400-129466400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr7:129464400-129466400	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:129464400-129466400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr7:129464600-129466400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr7:129464600-129466400	Active TSS	Osteobl	bone
6	chr7:129464800-129466400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:129464800-129466400	Active TSS	Hela-S3	cervix
8	chr7:129465000-129466400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:129465200-129466400	Flanking Active TSS	Liver	Liver
10	chr7:129465200-129466400	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr7:129465600-129466400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr7:129465600-129466400	Active TSS	Stomach Smooth Muscle	stomach
13	chr7:129465600-129469600	Weak transcription	Lung	lung
14	chr7:129465800-129466400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:129465800-129466400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:129466000-129466400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:129466000-129466400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr7:129466000-129466400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr7:129466000-129466400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr7:129466000-129466400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:129466000-129466400	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr7:129466000-129466400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr7:129466000-129466400	Enhancers	Fetal Lung	lung
24	chr7:129466000-129466400	Flanking Active TSS	Placenta	Placenta
25	chr7:129466000-129466400	Enhancers	Fetal Thymus	thymus
26	chr7:129466000-129466400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr7:129466000-129466400	Flanking Active TSS	NHEK	skin
28	chr7:129466000-129466600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:129466000-129469000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:129466000-129469800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:129466000-129470000	Weak transcription	Gastric	stomach
32	chr7:129466000-129471200	Weak transcription	Primary T cells from cord blood	blood
33	chr7:129466000-129471600	Weak transcription	Thymus	Thymus
34	chr7:129466200-129466400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:129466200-129466400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:129466200-129466400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:129466200-129466400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:129466200-129466400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:129466200-129466400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:129466200-129466400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr7:129466200-129466400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr7:129466200-129466400	Enhancers	Primary B cells from cord blood	blood
43	chr7:129466200-129466400	Enhancers	Primary B cells from peripheral blood	blood
44	chr7:129466200-129466400	Enhancers	Primary hematopoietic stem cells	blood
45	chr7:129466200-129466400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr7:129466200-129466400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr7:129466200-129466400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr7:129466200-129466400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:129466200-129466400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:129466200-129466400	Enhancers	Muscle Satellite Cultured Cells	--

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