Variant report

Variant	rs72624922
Chromosome Location	chr7:128051016-128051017
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HA-E2F1	chr7:128049410-128051408	MCF-7	breast:	n/a	chr7:128049581-128049590
2	MAZ	chr7:128048724-128051079	IMR90	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:128048546..128051424-chr8:143807465..143809769,2	MCF-7	breast:
2	chr7:127982196..127985036-chr7:128048348..128051893,5	MCF-7	breast:
3	chr7:128049014..128051472-chr7:128115731..128117859,3	K562	blood:
4	chr7:128047282..128051646-chr7:128071407..128074955,4	MCF-7	breast:
5	chr7:128049232..128052115-chr7:128095566..128097196,2	MCF-7	breast:
6	chr7:128036587..128038762-chr7:128050918..128052447,2	MCF-7	breast:
7	chr7:128050564..128052309-chr7:128052445..128055482,3	K562	blood:

No data

Variant related genes	Relation type
IMPDH1	TF binding region
ENSG00000135245	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000165055	Chromatin interaction
ENSG00000228700	Chromatin interaction
ENSG00000106344	Chromatin interaction
ENSG00000253741	Chromatin interaction
ENSG00000130193	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000253806	Chromatin interaction
ENSG00000238750	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10233310	1.00[ASN][1000 genomes]
rs72624950	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128049600-128051400	Active TSS	A549	lung
2	chr7:128050000-128051400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:128050200-128051200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:128050200-128051400	Active TSS	Right Atrium	heart
5	chr7:128050400-128051400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr7:128050600-128051400	Enhancers	Small Intestine	intestine
7	chr7:128050800-128051200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr7:128050800-128051200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:128050800-128051200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:128050800-128051200	Bivalent Enhancer	Fetal Stomach	stomach
11	chr7:128050800-128051400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:128050800-128051400	Enhancers	Colonic Mucosa	Colon
13	chr7:128050800-128051400	Enhancers	Fetal Brain Male	brain
14	chr7:128050800-128051400	Enhancers	Fetal Intestine Large	intestine
15	chr7:128050800-128051400	Enhancers	Fetal Intestine Small	intestine
16	chr7:128050800-128051400	Bivalent Enhancer	Fetal Kidney	kidney
17	chr7:128050800-128051400	Active TSS	Fetal Lung	lung
18	chr7:128050800-128051400	Bivalent Enhancer	HepG2	liver
19	chr7:128050800-128051400	Enhancers	NHEK	skin
20	chr7:128050800-128051600	Enhancers	Primary B cells from peripheral blood	blood
21	chr7:128050800-128051600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr7:128050800-128051600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:128050800-128062200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr7:128051000-128051200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:128051000-128051200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr7:128051000-128051400	Enhancers	Primary B cells from cord blood	blood
27	chr7:128051000-128051400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:128051000-128051400	Enhancers	Duodenum Mucosa	Duodenum
29	chr7:128051000-128051400	Enhancers	Placenta	Placenta
30	chr7:128051000-128051400	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr7:128051000-128051400	Enhancers	HMEC	breast
32	chr7:128051000-128051400	Enhancers	K562	blood
33	chr7:128051000-128051400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr7:128051000-128051600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr7:128051000-128052200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:128051000-128053400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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