Variant report

Variant	rs4727378
Chromosome Location	chr7:97499825-97499826
allele	A/C
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:5)
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	POLR2A	chr7:97497688-97501967	K562	blood:	n/a	n/a
2	MXI1	chr7:97499796-97502607	SK-N-SH	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:97499747..97502097-chr7:97599134..97602634,6	MCF-7	breast:
2	chr7:97499263..97502446-chr7:97599755..97603082,5	K562	blood:
3	chr7:97498933..97501538-chr7:115850035..115852126,2	K562	blood:
4	chr7:97496316..97498581-chr7:97499278..97501918,3	MCF-7	breast:
5	chr7:97499263..97501796-chr7:97600194..97603082,4	K562	blood:

No data

Variant related genes	Relation type
ASNS	TF binding region
ENSG00000070669	Chromatin interaction
ENSG00000135269	Chromatin interaction
ENSG00000243554	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1017070	0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11767463	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11768092	0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11771498	0.89[CEU][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17279084	0.87[AMR][1000 genomes]
rs56849186	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67761639	0.85[AMR][1000 genomes]
rs72615155	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9640651	0.85[AMR][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	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv428178	chr7:97402756-97648029	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758124	chr7:97476284-97648029	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759546	chr7:97476284-97648029	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv970554	chr7:97489362-97500692	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97477600-97500600	Weak transcription	Thymus	Thymus
2	chr7:97479000-97501000	Weak transcription	Fetal Intestine Large	intestine
3	chr7:97479200-97500800	Weak transcription	Right Ventricle	heart
4	chr7:97479400-97501000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:97479400-97501000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:97479600-97501000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:97479800-97500200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:97480200-97500600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:97481000-97500600	Weak transcription	NHDF-Ad	bronchial
10	chr7:97481400-97500600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:97481400-97500600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:97481400-97500600	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:97481400-97501000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:97481800-97500800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:97481800-97501000	Weak transcription	Fetal Intestine Small	intestine
16	chr7:97481800-97501000	Weak transcription	Gastric	stomach
17	chr7:97481800-97501000	Weak transcription	Pancreas	Pancrea
18	chr7:97481800-97501000	Weak transcription	Spleen	Spleen
19	chr7:97482800-97500800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:97483600-97500600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:97483600-97500800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:97483800-97500800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:97484000-97500400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:97484200-97500600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:97484200-97501000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:97484600-97501000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:97486200-97500800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:97486200-97501000	Weak transcription	Fetal Lung	lung
29	chr7:97486600-97501000	Weak transcription	Small Intestine	intestine
30	chr7:97487200-97500800	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:97487800-97500200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr7:97487800-97500400	Weak transcription	Brain Angular Gyrus	brain
33	chr7:97487800-97500600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr7:97487800-97500600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:97487800-97500600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:97487800-97500800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:97487800-97500800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:97487800-97500800	Weak transcription	Adipose Nuclei	Adipose
39	chr7:97487800-97500800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:97487800-97500800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr7:97487800-97500800	Weak transcription	Fetal Stomach	stomach
42	chr7:97487800-97501000	Weak transcription	Aorta	Aorta
43	chr7:97487800-97501000	Weak transcription	Brain Substantia Nigra	brain
44	chr7:97487800-97501000	Weak transcription	Ovary	ovary
45	chr7:97488000-97500600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr7:97488000-97500800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr7:97488400-97500000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:97488400-97500400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:97488800-97500000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr7:97488800-97500400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links