Variant report

Variant	rs72868269
Chromosome Location	chr4:78778449-78778450
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:78740050..78742415-chr4:78776978..78780516,3	K562	blood:
2	chr4:78774745..78780224-chr4:78780952..78785621,18	K562	blood:
3	chr4:78776034..78778533-chr4:78782302..78784532,2	MCF-7	breast:
4	chr4:78739984..78742186-chr4:78777973..78779960,2	MCF-7	breast:
5	chr4:77872181..77874980-chr4:78778372..78781139,2	MCF-7	breast:
6	chr4:78766322..78768187-chr4:78776511..78778748,2	K562	blood:

Variant related genes	Relation type
ENSG00000169288	Chromatin interaction
ENSG00000138767	Chromatin interaction

Extended variants
information (count: 143 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10005741	0.81[ASN][1000 genomes]
rs10007837	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1010728	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10222901	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1039403	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10428319	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10856982	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11097900	0.88[AMR][1000 genomes]
rs11097935	0.86[ASN][1000 genomes]
rs11097965	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1156059	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11721383	0.84[ASN][1000 genomes]
rs11723221	0.90[ASN][1000 genomes]
rs11727993	0.86[ASN][1000 genomes]
rs11729703	0.80[ASN][1000 genomes]
rs11730329	1.00[ASN][1000 genomes]
rs11730403	1.00[ASN][1000 genomes]
rs11731374	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11733759	0.99[ASN][1000 genomes]
rs11737353	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11737861	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11939576	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12108312	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12510593	0.86[AMR][1000 genomes]
rs12643960	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13105201	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13111592	0.81[ASN][1000 genomes]
rs13118459	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13128914	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13131896	1.00[ASN][1000 genomes]
rs13137909	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13144225	0.86[ASN][1000 genomes]
rs13144226	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1402626	1.00[ASN][1000 genomes]
rs1501373	0.84[ASN][1000 genomes]
rs1521419	1.00[ASN][1000 genomes]
rs1554457	1.00[ASN][1000 genomes]
rs17002823	1.00[ASN][1000 genomes]
rs17002824	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17002825	1.00[ASN][1000 genomes]
rs17002828	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17002829	1.00[ASN][1000 genomes]
rs17002831	1.00[ASN][1000 genomes]
rs1813725	0.88[ASN][1000 genomes]
rs1980266	1.00[ASN][1000 genomes]
rs2008222	0.82[AFR][1000 genomes]
rs2030463	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2102116	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2134048	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2173869	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2174078	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2174080	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2866688	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2866690	0.91[AMR][1000 genomes]
rs28796999	0.88[ASN][1000 genomes]
rs28891692	0.88[ASN][1000 genomes]
rs2903291	0.86[ASN][1000 genomes]
rs3205281	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3849580	0.86[ASN][1000 genomes]
rs4078523	0.98[ASN][1000 genomes]
rs4304001	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4365752	1.00[ASN][1000 genomes]
rs4388114	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4410552	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4417999	0.80[ASN][1000 genomes]
rs4472161	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4541532	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4546268	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4561950	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4607246	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4859872	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4859876	0.81[ASN][1000 genomes]
rs4859878	0.86[ASN][1000 genomes]
rs55673370	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55694923	1.00[ASN][1000 genomes]
rs55886549	1.00[ASN][1000 genomes]
rs56138517	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57246363	1.00[ASN][1000 genomes]
rs57501818	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57868780	0.90[ASN][1000 genomes]
rs57896992	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58218398	0.96[ASN][1000 genomes]
rs58358199	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60135456	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6533217	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6533226	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6533269	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6533270	0.86[ASN][1000 genomes]
rs6533271	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6533272	0.86[ASN][1000 genomes]
rs6533274	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6533290	1.00[ASN][1000 genomes]
rs6817305	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817823	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6821826	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6822317	1.00[ASN][1000 genomes]
rs6823465	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6827822	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6828302	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6829203	0.85[EUR][1000 genomes]
rs6832015	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6833179	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6836627	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6838630	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6839504	0.95[AMR][1000 genomes]
rs6849922	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6850049	0.86[ASN][1000 genomes]
rs6850111	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6854989	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6857067	0.86[ASN][1000 genomes]
rs72869573	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73827437	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73827443	1.00[ASN][1000 genomes]
rs73827451	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7439347	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7655949	0.81[ASN][1000 genomes]
rs7656319	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7657658	1.00[ASN][1000 genomes]
rs7659122	0.86[EUR][1000 genomes]
rs7661064	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7663359	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7669988	0.81[ASN][1000 genomes]
rs7671941	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7673642	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7674744	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7675586	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7687170	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7687812	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7689226	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7692075	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9996218	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879501	chr4:78647634-78866007	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv1818157	chr4:78678104-78849088	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1010714	chr4:78742505-78991030	Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1824966	chr4:78747771-78823070	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv516836	chr4:78748977-78981919	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv594704	chr4:78748977-78981919	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv461562	chr4:78757015-78981919	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv461563	chr4:78757015-78981919	Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv594705	chr4:78757015-78981919	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv1008217	chr4:78777531-78957311	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv537145	chr4:78777531-78957311	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78773600-78779000	Enhancers	Primary B cells from peripheral blood	blood
2	chr4:78773800-78778600	Enhancers	Primary B cells from cord blood	blood
3	chr4:78774400-78783400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:78774600-78782800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:78775400-78782000	Weak transcription	Thymus	Thymus
6	chr4:78775400-78783000	Weak transcription	Small Intestine	intestine
7	chr4:78776400-78782600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:78776400-78782800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr4:78777400-78778600	Enhancers	Adipose Nuclei	Adipose
10	chr4:78777400-78778600	Enhancers	Fetal Kidney	kidney
11	chr4:78777400-78778800	Enhancers	Primary hematopoietic stem cells	blood
12	chr4:78777400-78778800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr4:78777600-78778800	Enhancers	HUVEC	blood vessel
14	chr4:78777800-78778600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:78777800-78778600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr4:78777800-78778800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr4:78777800-78778800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr4:78778000-78778600	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr4:78778000-78778600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:78778000-78778600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr4:78778000-78778600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:78778000-78778600	Enhancers	HSMMtube	muscle
23	chr4:78778000-78778600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr4:78778000-78778800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:78778000-78778800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr4:78778000-78778800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr4:78778000-78778800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr4:78778000-78782600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr4:78778200-78778600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr4:78778200-78778600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:78778200-78778600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr4:78778200-78778600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr4:78778200-78778600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr4:78778200-78778600	Enhancers	GM12878-XiMat	blood
35	chr4:78778200-78778800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:78778400-78778600	Weak transcription	Fetal Thymus	thymus
37	chr4:78778400-78778800	Enhancers	Fetal Muscle Leg	muscle
38	chr4:78778400-78782600	Weak transcription	K562	blood

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