Variant report

Variant	rs72501957
Chromosome Location	chr4:700829-700830
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:697549..703820-chr4:770860..775722,9	K562	blood:
2	chr4:699605..701232-chr4:847515..849852,2	K562	blood:
3	chr4:700770..703438-chr4:730148..732108,2	K562	blood:
4	chr17:73773135..73777353-chr4:698527..702357,3	MCF-7	breast:
5	chr4:674123..676409-chr4:700716..703557,3	K562	blood:
6	chr4:679478..681319-chr4:699446..701129,2	K562	blood:
7	chr4:672883..676399-chr4:697081..701106,5	MCF-7	breast:
8	chr4:682326..684833-chr4:700614..702994,2	MCF-7	breast:
9	chr4:666292..671732-chr4:694079..701503,8	MCF-7	breast:
10	chr4:700678..704217-chr4:710705..714201,3	MCF-7	breast:
11	chr4:666295..671517-chr4:698228..703248,8	MCF-7	breast:
12	chr4:680242..683670-chr4:697022..701034,8	MCF-7	breast:
13	chr4:679574..681875-chr4:700268..702006,2	K562	blood:
14	chr4:666011..668174-chr4:698640..701171,3	K562	blood:
15	chr4:684700..687240-chr4:700658..702428,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000132475	Chromatin interaction
ENSG00000169020	Chromatin interaction
ENSG00000178950	Chromatin interaction
ENSG00000215375	Chromatin interaction
ENSG00000249592	Chromatin interaction
ENSG00000169026	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs58167498	0.91[ASN][1000 genomes]
rs72501956	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
6	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS 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	104 gene(s)	inside rSNPs	diseases
10	nsv593206	chr4:625962-735150	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv1829397	chr4:655939-1041957	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
12	nsv829834	chr4:665477-775524	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv593209	chr4:686563-747810	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv870115	chr4:692811-733794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv10414	chr4:696527-701955	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
16	esv3323850	chr4:698477-701325	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	esv3378645	chr4:698602-700850	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:698800-701000	Active TSS	Fetal Kidney	kidney
2	chr4:699000-701200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:699000-701200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr4:699000-701200	Active TSS	A549	lung
5	chr4:699000-701400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:699000-701400	Active TSS	HSMMtube	muscle
7	chr4:699000-701800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:699200-701000	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr4:699200-701200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr4:699200-701200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr4:699200-701200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:699200-701200	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr4:699200-701400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr4:699200-701400	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr4:699400-701200	Active TSS	GM12878-XiMat	blood
16	chr4:699400-701400	Active TSS	HepG2	liver
17	chr4:699800-701400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:699800-701400	Flanking Active TSS	Colonic Mucosa	Colon
19	chr4:700000-701000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr4:700000-701200	Flanking Active TSS	HMEC	breast
21	chr4:700000-701600	Flanking Active TSS	Placenta	Placenta
22	chr4:700000-704400	Enhancers	Fetal Brain Male	brain
23	chr4:700200-701200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr4:700200-701400	Weak transcription	Small Intestine	intestine
25	chr4:700200-702600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:700400-701000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr4:700400-701000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr4:700400-701200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:700400-701200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:700400-701400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:700400-701400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:700400-701600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr4:700400-702600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:700400-702600	Enhancers	Liver	Liver
35	chr4:700400-702800	Enhancers	Primary B cells from cord blood	blood
36	chr4:700400-702800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr4:700400-703000	Enhancers	Primary B cells from peripheral blood	blood
38	chr4:700400-703400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr4:700400-703600	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr4:700600-701000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
41	chr4:700600-701000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:700600-701000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:700600-701000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:700600-701000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr4:700600-701000	Flanking Active TSS	Fetal Lung	lung
46	chr4:700600-701000	Flanking Active TSS	Gastric	stomach
47	chr4:700600-701000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr4:700600-701000	Flanking Active TSS	NHDF-Ad	bronchial
49	chr4:700600-701000	Flanking Active TSS	NHLF	lung
50	chr4:700600-701200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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