Variant report

Variant	rs7635120
Chromosome Location	chr3:138368204-138368205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr3:138367934-138368226	K562	blood:	n/a	n/a
2	POLR2A	chr3:138368009-138368386	MCF-7	breast:	n/a	n/a
3	MAX	chr3:138367912-138368863	K562	blood:	n/a	n/a
4	POLR2A	chr3:138367879-138368214	K562	blood:	n/a	n/a
5	CBX3	chr3:138367766-138368604	K562	blood:	n/a	n/a
6	PML	chr3:138368183-138368654	K562	blood:	n/a	n/a
7	POLR2A	chr3:138367860-138368744	PANC-1	pancreas:	n/a	n/a
8	MAX	chr3:138367960-138368205	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr3:138367806-138368369	HL-60	blood:	n/a	n/a
10	POLR2A	chr3:138367854-138368855	HL-60	blood:	n/a	n/a
11	POLR2A	chr3:138367269-138369456	K562	blood:	n/a	n/a
12	FOSL2	chr3:138367838-138369015	HepG2	liver:	n/a	n/a
13	POLR2A	chr3:138367901-138369027	K562	blood:	n/a	n/a
14	POLR2A	chr3:138367862-138369026	K562	blood:	n/a	n/a
15	POLR2A	chr3:138367873-138368832	HepG2	liver:	n/a	n/a
16	SETDB1	chr3:138367949-138368794	K562	blood:	n/a	n/a
17	POLR2A	chr3:138368047-138368274	MCF-7	breast:	n/a	n/a
18	POLR2A	chr3:138367976-138368805	Hela-S3	cervix:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:138366382..138369561-chr3:138372165..138374975,3	K562	blood:
2	chr3:138363143..138366102-chr3:138366258..138369219,2	K562	blood:
3	chr3:138366382..138369111-chr3:138372165..138373999,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000174715	TF binding region
ENSG00000174715	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12107289	0.90[AFR][1000 genomes]
rs12108068	0.87[AFR][1000 genomes]
rs28473201	0.90[AFR][1000 genomes]
rs3729699	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs56382670	1.00[AMR][1000 genomes]
rs56927625	1.00[AMR][1000 genomes]
rs57600048	1.00[AMR][1000 genomes]
rs58671569	1.00[AFR][1000 genomes]
rs59797415	0.97[AFR][1000 genomes]
rs59813438	0.85[AFR][1000 genomes]
rs60850836	0.97[AFR][1000 genomes]
rs60987624	1.00[AMR][1000 genomes]
rs61301555	1.00[AMR][1000 genomes]
rs6795773	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs72972909	1.00[AMR][1000 genomes]
rs72972913	1.00[AMR][1000 genomes]
rs72972920	1.00[AMR][1000 genomes]
rs72972926	1.00[AMR][1000 genomes]
rs72982685	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72988872	0.91[AFR][1000 genomes]
rs72988878	0.81[AFR][1000 genomes]
rs72990507	0.90[AFR][1000 genomes]
rs72990541	0.85[AFR][1000 genomes]
rs72990552	0.81[AFR][1000 genomes]
rs7611523	1.00[AMR][1000 genomes]
rs7648802	0.82[YRI][hapmap];0.90[AFR][1000 genomes]
rs7649131	0.91[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv967070	chr3:138355155-138372373	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
10	nsv1010514	chr3:138365640-138737688	Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138340400-138393800	Weak transcription	Fetal Brain Male	brain
2	chr3:138360600-138372000	Weak transcription	NH-A	brain
3	chr3:138360800-138407600	Weak transcription	HUVEC	blood vessel
4	chr3:138364400-138459200	Weak transcription	Psoas Muscle	Psoas
5	chr3:138366000-138368400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr3:138366800-138368800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr3:138367200-138374200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:138367400-138369000	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr3:138367400-138369200	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr3:138367400-138370200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr3:138367600-138369000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:138367600-138369000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr3:138367600-138369200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr3:138367600-138369200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:138367600-138369200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:138367600-138369200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:138367600-138369200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:138367600-138369200	ZNF genes & repeats	Fetal Muscle Leg	muscle
19	chr3:138367600-138369400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:138367600-138369400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr3:138367600-138369400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:138367600-138369400	Strong transcription	Brain Anterior Caudate	brain
23	chr3:138367600-138369800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr3:138367600-138369800	Strong transcription	Primary T cells from cord blood	blood
25	chr3:138367600-138370200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
26	chr3:138367600-138370800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr3:138367600-138381000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr3:138367800-138368400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr3:138367800-138368400	ZNF genes & repeats	Fetal Brain Female	brain
30	chr3:138367800-138368400	Weak transcription	Stomach Mucosa	stomach
31	chr3:138367800-138368400	ZNF genes & repeats	HepG2	liver
32	chr3:138367800-138368600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:138367800-138368600	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr3:138367800-138368600	ZNF genes & repeats	Brain Germinal Matrix	brain
35	chr3:138367800-138368600	ZNF genes & repeats	Fetal Thymus	thymus
36	chr3:138367800-138368600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
37	chr3:138367800-138368600	Strong transcription	HSMMtube	muscle
38	chr3:138367800-138368800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:138367800-138368800	Strong transcription	Fetal Heart	heart
40	chr3:138367800-138368800	ZNF genes & repeats	Placenta	Placenta
41	chr3:138367800-138369000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:138367800-138369000	Strong transcription	Pancreatic Islets	Pancreatic Islet
43	chr3:138367800-138369000	Strong transcription	HSMM	muscle
44	chr3:138367800-138369200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
45	chr3:138367800-138369200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr3:138367800-138369200	ZNF genes & repeats	Liver	Liver
47	chr3:138367800-138369200	Strong transcription	Colon Smooth Muscle	Colon
48	chr3:138367800-138369200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
49	chr3:138367800-138369200	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr3:138367800-138369200	Strong transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links