Variant report

Variant	rs72501956
Chromosome Location	chr4:700141-700142
allele	A/C
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 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	chr17:73773135..73777353-chr4:698527..702357,3	MCF-7	breast:
4	chr4:679478..681319-chr4:699446..701129,2	K562	blood:
5	chr4:672883..676399-chr4:697081..701106,5	MCF-7	breast:
6	chr4:666292..671732-chr4:694079..701503,8	MCF-7	breast:
7	chr4:666295..671517-chr4:698228..703248,8	MCF-7	breast:
8	chr4:680242..683670-chr4:697022..701034,8	MCF-7	breast:
9	chr4:681383..683193-chr4:698223..700658,3	K562	blood:
10	chr4:666011..668174-chr4:698640..701171,3	K562	blood:

No data

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58167498	0.81[ASN][1000 genomes]
rs72501957	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][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	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	nsv822426	chr4:698559-700452	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:698600-700200	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr4:698600-700600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:698800-700600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:698800-700600	Active TSS	Brain Substantia Nigra	brain
5	chr4:698800-700600	Active TSS	Rectal Smooth Muscle	rectum
6	chr4:698800-701000	Active TSS	Fetal Kidney	kidney
7	chr4:699000-700400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:699000-700600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:699000-700600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:699000-700600	Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr4:699000-700600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:699000-700600	Active TSS	Brain Cingulate Gyrus	brain
13	chr4:699000-700600	Active TSS	Fetal Brain Female	brain
14	chr4:699000-700600	Active TSS	Gastric	stomach
15	chr4:699000-700600	Active TSS	Left Ventricle	heart
16	chr4:699000-700600	Active TSS	Ovary	ovary
17	chr4:699000-700600	Active TSS	Psoas Muscle	Psoas
18	chr4:699000-700800	Active TSS	Primary T cells from cord blood	blood
19	chr4:699000-700800	Active TSS	Right Atrium	heart
20	chr4:699000-700800	Active TSS	NH-A	brain
21	chr4:699000-701200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:699000-701200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr4:699000-701200	Active TSS	A549	lung
24	chr4:699000-701400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:699000-701400	Active TSS	HSMMtube	muscle
26	chr4:699000-701800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:699200-700200	Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr4:699200-700200	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr4:699200-700200	Active TSS	Small Intestine	intestine
30	chr4:699200-700200	Active TSS	K562	blood
31	chr4:699200-700400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr4:699200-700400	Active TSS	Aorta	Aorta
33	chr4:699200-700600	Active TSS	H1 Cell Line	embryonic stem cell
34	chr4:699200-700600	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr4:699200-700600	Active TSS	Brain Anterior Caudate	brain
36	chr4:699200-700600	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr4:699200-700600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr4:699200-700600	Active TSS	Colon Smooth Muscle	Colon
39	chr4:699200-700600	Active TSS	Esophagus	oesophagus
40	chr4:699200-700600	Active TSS	Fetal Lung	lung
41	chr4:699200-700600	Active TSS	Placenta Amnion	Placenta Amnion
42	chr4:699200-700600	Active TSS	HUVEC	blood vessel
43	chr4:699200-700600	Active TSS	NHDF-Ad	bronchial
44	chr4:699200-700600	Active TSS	Osteobl	bone
45	chr4:699200-700800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:699200-700800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:699200-700800	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr4:699200-700800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:699200-701000	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr4:699200-701200	Active TSS	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links