Variant report

Variant	rs1464970
Chromosome Location	chr7:129587947-129587948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129587456..129589237-chr7:129595459..129597613,2	K562	blood:
2	chr7:129470865..129472484-chr7:129587803..129590371,2	K562	blood:
3	chr7:129577601..129579299-chr7:129587764..129589534,2	MCF-7	breast:
4	chr7:129575738..129578941-chr7:129585169..129588929,4	K562	blood:
5	chr7:129469886..129472381-chr7:129587283..129590699,3	MCF-7	breast:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs12530557	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531622	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531936	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12532612	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532959	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12533033	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12533290	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12533464	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12533528	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533953	1.00[AFR][1000 genomes]
rs12534043	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12534061	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12534134	1.00[AFR][1000 genomes]
rs12534320	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12535347	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535722	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12535728	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12535857	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536424	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12536978	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537150	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537336	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537576	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537604	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537660	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537782	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538787	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12539145	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12539653	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539800	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12540479	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540517	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12540541	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12690	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1464971	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464972	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471874	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1471877	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17559301	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1965567	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1965568	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2631601	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2727457	0.91[ASN][1000 genomes]
rs34463221	1.00[AFR][1000 genomes]
rs34629832	1.00[AFR][1000 genomes]
rs34930431	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35189138	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55675451	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55732825	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55735840	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55748031	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs55767113	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55769831	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55772531	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55798026	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55809128	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55955026	1.00[AFR][1000 genomes]
rs55995041	1.00[AFR][1000 genomes]
rs56022754	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56025626	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56034137	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56080853	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56085705	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56094908	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56117230	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56153730	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56167610	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56176516	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56191413	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56321762	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56332361	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56333543	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56376893	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56381627	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56408895	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs718925	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs718926	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129549800-129588200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:129556600-129588000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:129559600-129588000	Weak transcription	Esophagus	oesophagus
4	chr7:129559800-129588600	Weak transcription	Colonic Mucosa	Colon
5	chr7:129565600-129588200	Weak transcription	HMEC	breast
6	chr7:129565800-129588200	Weak transcription	HUVEC	blood vessel
7	chr7:129569000-129588000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:129573200-129588200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:129573800-129588000	Weak transcription	HSMMtube	muscle
10	chr7:129573800-129588200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:129574000-129588600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:129577800-129589600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:129579400-129588400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:129580600-129588000	Weak transcription	Pancreas	Pancrea
15	chr7:129580600-129588200	Weak transcription	Aorta	Aorta
16	chr7:129580600-129588600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:129581800-129588000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:129582000-129589000	Weak transcription	Ovary	ovary
19	chr7:129582000-129589600	Weak transcription	Lung	lung
20	chr7:129584600-129588400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:129584600-129588600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:129584800-129588000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:129584800-129588000	Weak transcription	Spleen	Spleen
24	chr7:129584800-129588800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:129585000-129588200	Weak transcription	K562	blood
26	chr7:129586200-129588000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr7:129586200-129588200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:129586200-129588200	Enhancers	Colon Smooth Muscle	Colon
29	chr7:129586200-129588400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:129586200-129588400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr7:129586200-129588600	Enhancers	HepG2	liver
32	chr7:129586200-129588800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:129586400-129588000	Enhancers	Hela-S3	cervix
34	chr7:129586400-129588200	Enhancers	Liver	Liver
35	chr7:129586400-129588600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:129586400-129588800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr7:129586400-129588800	Enhancers	Brain Cingulate Gyrus	brain
38	chr7:129586400-129590400	Enhancers	Small Intestine	intestine
39	chr7:129586600-129588200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr7:129586600-129588200	Enhancers	Stomach Smooth Muscle	stomach
41	chr7:129586600-129588400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr7:129586600-129588600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr7:129586600-129588600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr7:129586600-129588800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr7:129586600-129588800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:129586600-129589000	Enhancers	Fetal Heart	heart
47	chr7:129586800-129588000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr7:129586800-129588200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:129586800-129588200	Enhancers	Rectal Smooth Muscle	rectum
50	chr7:129586800-129588200	Enhancers	A549	lung

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