Variant report

Variant	rs58469974
Chromosome Location	chr4:128885346-128885347
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:128885323-128885352	GM13977	blood:	n/a	n/a
2	CBX3	chr4:128884625-128885347	K562	blood:	n/a	n/a
3	POLR2A	chr4:128884415-128885470	GM12892	blood:	n/a	n/a
4	POLR2A	chr4:128885277-128885446	MCF-7	breast:	n/a	n/a
5	POLR2A	chr4:128885327-128885350	MCF-7	breast:	n/a	n/a
6	HEY1	chr4:128885076-128885489	HepG2	liver:	n/a	n/a
7	POLR2A	chr4:128884773-128885479	HepG2	liver:	n/a	n/a
8	CTCF	chr4:128885220-128885370	SAEC	small airway:	n/a	n/a
9	POLR2A	chr4:128885183-128885430	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr4:128885282-128885506	GM12878	blood:	n/a	n/a
11	POLR2A	chr4:128884329-128885459	GM12892	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:128799364..128804463-chr4:128885048..128888163,8	K562	blood:
2	chr4:128884518..128888041-chr4:128980422..128985043,7	MCF-7	breast:
3	chr4:128884064..128888795-chr4:128980591..128984632,7	MCF-7	breast:
4	chr4:128702304..128707255-chr4:128884841..128889595,9	K562	blood:
5	chr4:128885127..128890546-chr4:128980550..128983845,11	K562	blood:
6	chr4:128702265..128705282-chr4:128884841..128889213,7	K562	blood:
7	chr4:128884948..128891801-chr4:128980633..128984811,17	K562	blood:
8	chr4:128798970..128804322-chr4:128884774..128888553,10	K562	blood:

No data

Variant related genes	Relation type
C4orf29	TF binding region
ENSG00000164070	Chromatin interaction
ENSG00000142731	Chromatin interaction
ENSG00000138709	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56028089	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56758161	1.00[AMR][1000 genomes]
rs61289070	1.00[AMR][1000 genomes]
rs73847081	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847082	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847089	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv879922	chr4:128554404-128901402	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv879923	chr4:128554404-129068179	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1801492	chr4:128566686-128934513	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
8	esv3431515	chr4:128657260-128932577	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv532740	chr4:128710011-129035335	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	esv3416036	chr4:128782694-129133956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv1033701	chr4:128803159-129095018	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv1019193	chr4:128810527-128949320	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv1841203	chr4:128817558-129043809	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	nsv1029890	chr4:128828468-129041302	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
15	esv1817670	chr4:128850073-129012181	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
16	esv1821180	chr4:128850073-129012181	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	28 gene(s)	inside rSNPs	diseases
17	nsv1018952	chr4:128850790-129082821	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
18	nsv595388	chr4:128853913-129084831	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128837000-128885800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr4:128837400-128885800	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:128838400-128885800	Weak transcription	Brain Angular Gyrus	brain
4	chr4:128840000-128885800	Weak transcription	Aorta	Aorta
5	chr4:128842800-128885400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:128842800-128885600	Weak transcription	Psoas Muscle	Psoas
7	chr4:128843000-128885800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:128843000-128885800	Weak transcription	Brain Substantia Nigra	brain
9	chr4:128847600-128885800	Weak transcription	Lung	lung
10	chr4:128856600-128885800	Weak transcription	Left Ventricle	heart
11	chr4:128858800-128885800	Weak transcription	NHDF-Ad	bronchial
12	chr4:128862600-128885800	Weak transcription	HUVEC	blood vessel
13	chr4:128865000-128885800	Weak transcription	Small Intestine	intestine
14	chr4:128869600-128885800	Weak transcription	Ovary	ovary
15	chr4:128869800-128885800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:128870200-128885800	Weak transcription	Osteobl	bone
17	chr4:128870400-128885400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:128873000-128885600	Weak transcription	Right Atrium	heart
19	chr4:128876400-128885800	Weak transcription	NH-A	brain
20	chr4:128877600-128885800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr4:128877600-128885800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr4:128877800-128885400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:128882600-128885800	Weak transcription	NHLF	lung
24	chr4:128884600-128885400	Enhancers	Primary B cells from peripheral blood	blood
25	chr4:128884600-128885600	Enhancers	Primary B cells from cord blood	blood
26	chr4:128884600-128885600	Enhancers	Liver	Liver
27	chr4:128884600-128885600	Enhancers	Spleen	Spleen
28	chr4:128884600-128885800	Weak transcription	K562	blood
29	chr4:128884600-128887400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:128884600-128887600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr4:128884800-128885400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr4:128884800-128885600	Enhancers	Fetal Thymus	thymus
33	chr4:128884800-128885800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:128884800-128885800	Weak transcription	Fetal Heart	heart
35	chr4:128884800-128886000	Active TSS	Fetal Brain Female	brain
36	chr4:128884800-128887000	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr4:128884800-128887200	Active TSS	Primary T cells from cord blood	blood
38	chr4:128884800-128887200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr4:128884800-128887200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:128884800-128887200	Active TSS	Duodenum Mucosa	Duodenum
41	chr4:128884800-128887600	Active TSS	H1 Cell Line	embryonic stem cell
42	chr4:128884800-128887600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:128885000-128885800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr4:128885000-128885800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr4:128885000-128885800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr4:128885000-128885800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:128885000-128885800	Weak transcription	Fetal Brain Male	brain
48	chr4:128885000-128885800	Weak transcription	GM12878-XiMat	blood
49	chr4:128885000-128886000	Active TSS	Brain Germinal Matrix	brain
50	chr4:128885000-128887000	Active TSS	Primary hematopoietic stem cells short term culture	blood

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