Variant report

Variant	rs72868257
Chromosome Location	chr4:78775654-78775655
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:78774745..78780224-chr4:78780952..78785621,18	K562	blood:
2	chr4:78774429..78778317-chr4:78782409..78784960,4	MCF-7	breast:
3	chr4:78740242..78743124-chr4:78774584..78777185,2	K562	blood:

Variant related genes	Relation type
ENSG00000138767	Chromatin interaction
ENSG00000169288	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56754316	1.00[AFR][1000 genomes]
rs59899206	1.00[AFR][1000 genomes]
rs72864913	1.00[AFR][1000 genomes]
rs72864947	1.00[AFR][1000 genomes]
rs72866657	1.00[AFR][1000 genomes]
rs72866694	1.00[AFR][1000 genomes]
rs72868229	1.00[AFR][1000 genomes]
rs72868232	1.00[AFR][1000 genomes]
rs72868261	1.00[AFR][1000 genomes]
rs72868270	1.00[AFR][1000 genomes]
rs72868296	1.00[AFR][1000 genomes]
rs72869530	1.00[AFR][1000 genomes]
rs72869540	1.00[AFR][1000 genomes]
rs72869555	1.00[AFR][1000 genomes]
rs72869556	1.00[AFR][1000 genomes]
rs72869579	1.00[AFR][1000 genomes]
rs72869582	1.00[AFR][1000 genomes]
rs72869586	1.00[AFR][1000 genomes]
rs72871123	1.00[AFR][1000 genomes]
rs72871134	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78773600-78776400	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr4:78773600-78779000	Enhancers	Primary B cells from peripheral blood	blood
3	chr4:78773800-78776400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr4:78773800-78776400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr4:78773800-78778600	Enhancers	Primary B cells from cord blood	blood
6	chr4:78774000-78776400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:78774000-78776400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:78774000-78776400	Enhancers	Fetal Thymus	thymus
9	chr4:78774000-78776800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr4:78774200-78776000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:78774200-78776200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr4:78774200-78776400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr4:78774400-78783400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:78774600-78777600	Weak transcription	K562	blood
15	chr4:78774600-78778200	Weak transcription	GM12878-XiMat	blood
16	chr4:78774600-78782800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:78774800-78776400	Enhancers	Primary hematopoietic stem cells	blood
18	chr4:78775200-78776200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr4:78775400-78775800	Weak transcription	Adipose Nuclei	Adipose
20	chr4:78775400-78776000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr4:78775400-78776400	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr4:78775400-78776400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:78775400-78778400	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:78775400-78782000	Weak transcription	Thymus	Thymus
25	chr4:78775400-78783000	Weak transcription	Small Intestine	intestine
26	chr4:78775600-78775800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr4:78775600-78775800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:78775600-78775800	Enhancers	HUVEC	blood vessel
29	chr4:78775600-78776000	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr4:78775600-78776000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr4:78775600-78776000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:78775600-78776000	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr4:78775600-78776400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:78775600-78776400	Enhancers	Placenta Amnion	Placenta Amnion
35	chr4:78775600-78776400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr4:78775600-78776400	Enhancers	NHEK	skin
37	chr4:78775600-78778000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:78775600-78778200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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