Variant report

Variant	rs73469781
Chromosome Location	chr7:129466019-129466020
allele	A/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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129247321..129249726-chr7:129464736..129466636,2	MCF-7	breast:
2	chr7:129424278..129426243-chr7:129464328..129466216,2	MCF-7	breast:
3	chr7:129465763..129467512-chr7:129467735..129470263,2	K562	blood:
4	chr7:129463919..129466418-chr7:129524712..129526599,2	MCF-7	breast:
5	chr7:129301627..129303933-chr7:129464656..129467241,2	K562	blood:
6	chr7:129413756..129415970-chr7:129465026..129467265,2	MCF-7	breast:
7	chr7:129007448..129009199-chr7:129463694..129466275,2	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	chr11:68046789..68047289-chr7:129465672..129466173,2	K562	blood:
11	chr7:129303697..129305648-chr7:129464306..129466248,38	K562	blood:
12	chr7:129250377..129253665-chr7:129464176..129466830,5	MCF-7	breast:
13	chr7:129249743..129252439-chr7:129465240..129468029,3	K562	blood:
14	chr7:129407354..129409161-chr7:129465148..129466728,2	K562	blood:
15	chr7:129465775..129467341-chr7:129472813..129475306,2	MCF-7	breast:
16	chr7:129440650..129441638-chr7:129465622..129466411,2	K562	blood:
17	chr7:129464031..129466452-chr7:129468201..129471315,4	MCF-7	breast:
18	chr7:129302884..129306085-chr7:129464127..129467247,3	MCF-7	breast:
19	chr7:129304013..129304684-chr7:129465631..129466183,2	MCF-7	breast:
20	chr7:129463253..129467439-chr7:129470010..129474375,4	K562	blood:
21	chr7:129285246..129287176-chr7:129465957..129468026,2	MCF-7	breast:
22	chr7:129380203..129383393-chr7:129464866..129467037,3	MCF-7	breast:
23	chr7:129303698..129305924-chr7:129463932..129466557,2	MCF-7	breast:
24	chr7:129413450..129422592-chr7:129463248..129466944,22	MCF-7	breast:
25	chr7:129465559..129467721-chr7:129591278..129593666,2	MCF-7	breast:
26	chr7:129298070..129300835-chr7:129464702..129466571,2	MCF-7	breast:
27	chr7:129304033..129305187-chr7:129464379..129466144,7	MCF-7	breast:
28	chr7:129389134..129391918-chr7:129464788..129466826,2	MCF-7	breast:
29	chr7:129418555..129422595-chr7:129463586..129466468,3	K562	blood:
30	chr7:129006840..129007756-chr7:129465394..129466260,2	K562	blood:
31	chr7:129249743..129251861-chr7:129464508..129466740,2	K562	blood:
32	chr7:129465730..129467252-chr7:129505158..129507081,2	MCF-7	breast:
33	chr7:129415990..129422927-chr7:129459994..129470946,26	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000207691	Chromatin interaction
ENSG00000186591	Chromatin interaction
ENSG00000273329	Chromatin interaction
ENSG00000106459	Chromatin interaction
ENSG00000244036	Chromatin interaction
ENSG00000242078	Chromatin interaction
ENSG00000158467	Chromatin interaction
ENSG00000199158	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1725079	1.00[EUR][1000 genomes]
rs2255639	1.00[EUR][1000 genomes]
rs2631604	1.00[EUR][1000 genomes]
rs2693722	1.00[EUR][1000 genomes]
rs2693740	1.00[EUR][1000 genomes]
rs2693741	1.00[EUR][1000 genomes]
rs2693742	1.00[EUR][1000 genomes]
rs2693743	1.00[EUR][1000 genomes]
rs2693747	1.00[EUR][1000 genomes]
rs2693748	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2708641	1.00[EUR][1000 genomes]
rs2727459	1.00[EUR][1000 genomes]
rs2727460	1.00[EUR][1000 genomes]
rs2727461	1.00[EUR][1000 genomes]
rs2727465	1.00[EUR][1000 genomes]
rs2727467	1.00[EUR][1000 genomes]
rs2727476	1.00[EUR][1000 genomes]
rs2727480	1.00[EUR][1000 genomes]
rs2727481	1.00[EUR][1000 genomes]
rs2727485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727494	1.00[EUR][1000 genomes]
rs2727495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727501	1.00[EUR][1000 genomes]
rs73469795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7804954	1.00[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129464400-129466200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:129464400-129466200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr7:129464400-129466200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr7:129464400-129466200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:129464400-129466200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr7:129464400-129466200	Flanking Active TSS	HMEC	breast
7	chr7:129464400-129466400	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr7:129464400-129466400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:129464400-129466400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr7:129464600-129466200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:129464600-129466200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:129464600-129466200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:129464600-129466200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:129464600-129466200	Active TSS	Aorta	Aorta
15	chr7:129464600-129466200	Active TSS	Esophagus	oesophagus
16	chr7:129464600-129466200	Active TSS	Fetal Kidney	kidney
17	chr7:129464600-129466200	Flanking Active TSS	Fetal Muscle Leg	muscle
18	chr7:129464600-129466200	Flanking Active TSS	K562	blood
19	chr7:129464600-129466400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr7:129464600-129466400	Active TSS	Osteobl	bone
21	chr7:129464800-129466200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:129464800-129466200	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr7:129464800-129466200	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr7:129464800-129466200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr7:129464800-129466200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr7:129464800-129466200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr7:129464800-129466200	Transcr. at gene 5' and 3'	Right Atrium	heart
28	chr7:129464800-129466200	Flanking Active TSS	Dnd41	blood
29	chr7:129464800-129466200	Active TSS	NHDF-Ad	bronchial
30	chr7:129464800-129466400	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr7:129464800-129466400	Active TSS	Hela-S3	cervix
32	chr7:129465000-129466200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:129465000-129466200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:129465000-129466200	Active TSS	Brain Substantia Nigra	brain
35	chr7:129465000-129466400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:129465200-129466400	Flanking Active TSS	Liver	Liver
37	chr7:129465200-129466400	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr7:129465400-129466200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:129465600-129466200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr7:129465600-129466400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr7:129465600-129466400	Active TSS	Stomach Smooth Muscle	stomach
42	chr7:129465600-129469600	Weak transcription	Lung	lung
43	chr7:129465800-129466200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:129465800-129466200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr7:129465800-129466200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:129465800-129466200	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr7:129465800-129466200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:129465800-129466200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:129465800-129466200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr7:129465800-129466200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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