Variant report

Variant	rs4689563
Chromosome Location	chr4:6937174-6937175
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:6919019..6922027-chr4:6936429..6940367,3	K562	blood:
2	chr4:6935997..6938458-chr4:6940561..6943507,2	K562	blood:
3	chr4:6936494..6939195-chr4:6954346..6955896,2	K562	blood:
4	chr4:6910325..6912411-chr4:6935059..6937267,2	MCF-7	breast:
5	chr4:6918904..6922027-chr4:6935797..6939427,3	K562	blood:

Variant related genes	Relation type
ENSG00000132405	Chromatin interaction
ENSG00000265953	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10012590	0.93[ASN][1000 genomes]
rs10025310	0.93[ASN][1000 genomes]
rs10937772	0.82[ASN][1000 genomes]
rs11732898	0.87[ASN][1000 genomes]
rs11938701	0.93[ASN][1000 genomes]
rs11944897	0.93[ASN][1000 genomes]
rs12503027	0.93[ASN][1000 genomes]
rs12510715	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12511796	0.87[EUR][1000 genomes]
rs12512484	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13107989	0.93[ASN][1000 genomes]
rs13108082	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13111887	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13115245	0.86[ASN][1000 genomes]
rs13122119	1.00[ASN][1000 genomes]
rs13144485	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13148395	0.93[ASN][1000 genomes]
rs13149411	1.00[ASN][1000 genomes]
rs13149923	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2301817	0.93[ASN][1000 genomes]
rs2301818	0.86[ASN][1000 genomes]
rs2301819	0.86[ASN][1000 genomes]
rs3188939	0.93[ASN][1000 genomes]
rs34219101	0.80[ASN][1000 genomes]
rs34221933	0.93[ASN][1000 genomes]
rs34335938	1.00[ASN][1000 genomes]
rs34379427	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34463709	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34481892	1.00[ASN][1000 genomes]
rs34860182	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34953654	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34959511	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34990775	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35170004	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35680216	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3892490	0.80[ASN][1000 genomes]
rs3894945	0.93[ASN][1000 genomes]
rs4234788	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4234791	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4234793	0.93[ASN][1000 genomes]
rs4296677	0.82[ASN][1000 genomes]
rs4458452	0.82[ASN][1000 genomes]
rs4544710	0.93[ASN][1000 genomes]
rs4645214	0.82[ASN][1000 genomes]
rs4689056	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4689560	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4689564	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689565	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4689566	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4689567	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4689568	0.87[ASN][1000 genomes]
rs4689575	0.93[ASN][1000 genomes]
rs4689579	0.86[ASN][1000 genomes]
rs55822670	0.80[ASN][1000 genomes]
rs62289166	0.93[ASN][1000 genomes]
rs6446559	0.80[ASN][1000 genomes]
rs66530709	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66640699	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66841627	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs66931928	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66992702	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6811496	0.93[ASN][1000 genomes]
rs6816660	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6816882	0.80[ASN][1000 genomes]
rs6818744	0.86[ASN][1000 genomes]
rs6831129	0.80[ASN][1000 genomes]
rs6834102	0.93[ASN][1000 genomes]
rs6840780	0.93[ASN][1000 genomes]
rs6854776	0.93[ASN][1000 genomes]
rs7655773	0.93[ASN][1000 genomes]
rs7658198	0.80[ASN][1000 genomes]
rs7661462	0.80[ASN][1000 genomes]
rs7661952	0.93[ASN][1000 genomes]
rs7673901	0.93[ASN][1000 genomes]
rs7675524	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7685667	0.93[ASN][1000 genomes]
rs9291126	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv980396	chr4:6929613-6942211	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6919600-6942200	Weak transcription	Hela-S3	cervix
2	chr4:6920200-6939600	Weak transcription	HUVEC	blood vessel
3	chr4:6926200-6942000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:6926200-6942600	Weak transcription	NHEK	skin
5	chr4:6926200-6943200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:6926600-6939200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:6928000-6937400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:6928000-6939200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:6928000-6942000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:6928000-6969600	Weak transcription	Aorta	Aorta
11	chr4:6929000-6942000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:6929000-6942200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:6929200-6942000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:6929400-6942400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:6929600-6942400	Weak transcription	Small Intestine	intestine
16	chr4:6929800-6939200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr4:6929800-6943200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:6930000-6940400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:6930600-6939200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:6931400-6937800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:6931400-6940000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:6931400-6943200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:6931600-6937800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:6931600-6940800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr4:6931600-6942000	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:6932000-6939200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr4:6932000-6939200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:6932000-6939800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:6932000-6940000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:6932000-6941600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr4:6932000-6942000	Weak transcription	Stomach Mucosa	stomach
32	chr4:6932000-6943400	Weak transcription	Fetal Brain Female	brain
33	chr4:6932000-6943400	Weak transcription	Fetal Kidney	kidney
34	chr4:6932200-6938200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr4:6932200-6939200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:6932200-6939200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:6932200-6939400	Weak transcription	Primary B cells from cord blood	blood
38	chr4:6932200-6939400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr4:6932200-6939800	Weak transcription	Left Ventricle	heart
40	chr4:6932200-6939800	Weak transcription	Right Atrium	heart
41	chr4:6932200-6940800	Weak transcription	Primary T cells from cord blood	blood
42	chr4:6932200-6943200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr4:6932400-6939200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:6933000-6939200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr4:6933400-6939000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr4:6933400-6939200	Weak transcription	Fetal Muscle Leg	muscle
47	chr4:6933400-6939400	Weak transcription	Pancreas	Pancrea
48	chr4:6933400-6942200	Weak transcription	Psoas Muscle	Psoas
49	chr4:6933600-6939200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr4:6933600-6939400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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