Variant report

Variant	rs67814821
Chromosome Location	chr4:78778748-78778749
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	chr4:78739984..78742186-chr4:78777973..78779960,2	MCF-7	breast:
4	chr4:77872181..77874980-chr4:78778372..78781139,2	MCF-7	breast:
5	chr4:78766322..78768187-chr4:78776511..78778748,2	K562	blood:

Variant related genes	Relation type
ENSG00000138767	Chromatin interaction
ENSG00000169288	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10005531	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10018117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10019920	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10026176	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10027634	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10030568	0.82[EUR][1000 genomes]
rs10049674	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11931686	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11942975	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12509847	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13131331	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1587563	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs17002804	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28436599	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28685099	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4128860	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4328941	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4859512	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4859513	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4859882	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4859884	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4859890	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6533355	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6811439	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6814088	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6816134	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6820725	0.84[EUR][1000 genomes]
rs6825492	0.84[ASN][1000 genomes]
rs6849145	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7436080	0.82[EUR][1000 genomes]
rs7660788	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7682450	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs924684	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs924685	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9654194	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9994366	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[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	chr4:78774400-78783400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:78774600-78782800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:78775400-78782000	Weak transcription	Thymus	Thymus
5	chr4:78775400-78783000	Weak transcription	Small Intestine	intestine
6	chr4:78776400-78782600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:78776400-78782800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr4:78777400-78778800	Enhancers	Primary hematopoietic stem cells	blood
9	chr4:78777400-78778800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:78777600-78778800	Enhancers	HUVEC	blood vessel
11	chr4:78777800-78778800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr4:78777800-78778800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr4:78778000-78778800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:78778000-78778800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr4:78778000-78778800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr4:78778000-78778800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr4:78778000-78782600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr4:78778200-78778800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:78778400-78778800	Enhancers	Fetal Muscle Leg	muscle
20	chr4:78778400-78782600	Weak transcription	K562	blood
21	chr4:78778600-78778800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:78778600-78778800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr4:78778600-78779000	Enhancers	Fetal Thymus	thymus
24	chr4:78778600-78779400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:78778600-78779400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr4:78778600-78779600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr4:78778600-78780200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:78778600-78780600	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr4:78778600-78780800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:78778600-78781000	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr4:78778600-78782200	Weak transcription	Primary B cells from cord blood	blood
32	chr4:78778600-78782200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:78778600-78782200	Weak transcription	GM12878-XiMat	blood
34	chr4:78778600-78782400	Enhancers	Primary T cells from cord blood	blood
35	chr4:78778600-78782600	Weak transcription	Fetal Kidney	kidney
36	chr4:78778600-78782800	Weak transcription	Adipose Nuclei	Adipose
37	chr4:78778600-78782800	Weak transcription	HSMMtube	muscle
38	chr4:78778600-78783000	Enhancers	Primary T helper cells fromperipheralblood	blood

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