Variant report

Variant	rs34953654
Chromosome Location	chr4:6924515-6924516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:6924422..6927283-chr4:6930396..6933115,3	K562	blood:
2	chr4:6917201..6921579-chr4:6924492..6930074,6	MCF-7	breast:
3	chr4:6910406..6912852-chr4:6922580..6925355,2	MCF-7	breast:
4	chr4:6918829..6920609-chr4:6923833..6926676,3	MCF-7	breast:
5	chr4:6922272..6924651-chr4:6925651..6927891,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10012590	0.81[ASN][1000 genomes]
rs10025310	0.81[ASN][1000 genomes]
rs11938701	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11944897	0.81[ASN][1000 genomes]
rs12503027	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12512484	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13107989	0.81[ASN][1000 genomes]
rs13108082	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13111887	0.81[ASN][1000 genomes]
rs13115245	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs13122119	0.81[AFR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13141777	0.82[AMR][1000 genomes]
rs13144485	0.86[AMR][1000 genomes]
rs13148395	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13149411	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13149923	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2301817	0.81[ASN][1000 genomes]
rs2301818	0.82[AMR][1000 genomes]
rs3188939	0.81[ASN][1000 genomes]
rs34221933	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34335938	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34379427	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34463709	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34481892	0.81[AFR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34860182	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34959511	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34990775	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35170004	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35680216	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3894945	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4234788	0.81[ASN][1000 genomes]
rs4234791	0.87[ASN][1000 genomes]
rs4234793	0.81[ASN][1000 genomes]
rs4544710	0.81[ASN][1000 genomes]
rs4689056	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4689560	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4689563	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4689564	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4689565	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4689575	0.81[ASN][1000 genomes]
rs62289166	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs66530709	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66640699	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs66841627	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66931928	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs66992702	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6811496	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6816660	0.81[ASN][1000 genomes]
rs6818744	0.81[AMR][1000 genomes]
rs6834102	0.81[ASN][1000 genomes]
rs6840780	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6854776	0.81[ASN][1000 genomes]
rs7655773	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7661952	0.81[ASN][1000 genomes]
rs7673901	0.81[ASN][1000 genomes]
rs7685667	0.81[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	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6912600-6925400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:6913200-6925200	Weak transcription	NHLF	lung
3	chr4:6918600-6925000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:6918600-6925200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:6918600-6925200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:6918600-6925400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:6918800-6925000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:6918800-6925200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:6918800-6925200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:6918800-6925400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:6919000-6925200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:6919000-6925200	Weak transcription	NHEK	skin
13	chr4:6919000-6928000	Weak transcription	Fetal Kidney	kidney
14	chr4:6919200-6925400	Weak transcription	HSMMtube	muscle
15	chr4:6919600-6925200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:6919600-6925200	Weak transcription	Ovary	ovary
17	chr4:6919600-6925600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:6919600-6942200	Weak transcription	Hela-S3	cervix
19	chr4:6919800-6925000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:6920000-6925200	Weak transcription	Brain Angular Gyrus	brain
21	chr4:6920200-6925200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr4:6920200-6925200	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:6920200-6925200	Weak transcription	Right Ventricle	heart
24	chr4:6920200-6925400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr4:6920200-6927600	Weak transcription	Right Atrium	heart
26	chr4:6920200-6939600	Weak transcription	HUVEC	blood vessel
27	chr4:6920400-6925000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:6920400-6925000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:6920400-6925000	Weak transcription	Colonic Mucosa	Colon
30	chr4:6920400-6925000	Weak transcription	Dnd41	blood
31	chr4:6920400-6925200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:6920400-6925200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:6920400-6925200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:6920400-6925200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:6920400-6925200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr4:6920400-6925200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr4:6920400-6925200	Weak transcription	Brain Germinal Matrix	brain
38	chr4:6920400-6925200	Weak transcription	Left Ventricle	heart
39	chr4:6920400-6925200	Weak transcription	A549	lung
40	chr4:6920400-6925400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr4:6920400-6925400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr4:6920400-6925400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:6920400-6925400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:6920400-6925400	Weak transcription	Pancreas	Pancrea
45	chr4:6920400-6925400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr4:6920400-6928600	Weak transcription	Psoas Muscle	Psoas
47	chr4:6920400-6931000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr4:6920600-6925000	Weak transcription	GM12878-XiMat	blood
49	chr4:6920600-6925200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr4:6920800-6924600	Weak transcription	Primary B cells from peripheral blood	blood

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