Variant report

Variant	rs7695623
Chromosome Location	chr4:144353246-144353247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr4:144352713-144353402	NT2-D1	testis:	n/a	n/a
2	YY1	chr4:144352644-144353408	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr4:144352808-144353314	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr4:144353113-144353279	H1-hESC	embryonic stem cell:	n/a	n/a
5	TEAD4	chr4:144353149-144353463	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr4:144352766-144353344	H1-hESC	embryonic stem cell:	n/a	n/a
7	YY1	chr4:144352643-144353425	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr4:144352623-144353363	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr4:144352682-144353356	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:144315927..144318308-chr4:144352192..144353716,2	K562	blood:

No data

Variant related genes	Relation type
GAB1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10023724	1.00[CHD][hapmap]
rs11933278	0.80[YRI][hapmap]
rs11940828	0.93[AMR][1000 genomes]
rs11940915	0.93[AMR][1000 genomes]
rs17017770	0.80[YRI][hapmap]
rs2229879	1.00[CHD][hapmap]
rs2666350	1.00[MEX][hapmap]
rs28924082	1.00[ASN][1000 genomes]
rs28987969	1.00[ASN][1000 genomes]
rs34140972	0.93[AMR][1000 genomes]
rs57652703	0.93[AMR][1000 genomes]
rs60327697	1.00[ASN][1000 genomes]
rs6811304	0.93[AMR][1000 genomes]
rs6815420	0.93[AMR][1000 genomes]
rs6817754	0.93[AMR][1000 genomes]
rs6842199	0.93[AMR][1000 genomes]
rs6858550	0.93[AMR][1000 genomes]
rs72949189	0.93[AMR][1000 genomes]
rs7680485	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7690186	1.00[ASN][1000 genomes]
rs7691050	1.00[MEX][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes]
rs9991495	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757960	chr4:144348293-145131592	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	esv2759288	chr4:144348293-145131592	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1019980	chr4:144350575-144399936	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144318200-144362400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:144327800-144361200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:144327800-144388200	Weak transcription	HepG2	liver
4	chr4:144328000-144359200	Weak transcription	Esophagus	oesophagus
5	chr4:144329000-144359400	Weak transcription	K562	blood
6	chr4:144332400-144359200	Weak transcription	Pancreas	Pancrea
7	chr4:144332800-144359200	Weak transcription	HMEC	breast
8	chr4:144333000-144358800	Weak transcription	Right Ventricle	heart
9	chr4:144333000-144364600	Weak transcription	NHEK	skin
10	chr4:144333400-144359400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:144333400-144362400	Weak transcription	NH-A	brain
12	chr4:144333600-144359800	Weak transcription	HSMMtube	muscle
13	chr4:144334000-144359400	Weak transcription	HUVEC	blood vessel
14	chr4:144336400-144392200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:144338600-144359200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:144339400-144394600	Weak transcription	Colonic Mucosa	Colon
17	chr4:144339600-144354600	Weak transcription	Placenta	Placenta
18	chr4:144339600-144359400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:144340000-144359400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:144341800-144359400	Weak transcription	Psoas Muscle	Psoas
21	chr4:144342000-144382000	Weak transcription	Fetal Kidney	kidney
22	chr4:144342600-144359200	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:144342600-144359800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:144344000-144363000	Weak transcription	Spleen	Spleen
25	chr4:144345600-144359200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:144346000-144355000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:144347000-144359200	Weak transcription	Lung	lung
28	chr4:144347000-144359200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr4:144347000-144359400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:144347000-144359600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:144347000-144382600	Weak transcription	Gastric	stomach
32	chr4:144347200-144354800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:144348000-144353600	ZNF genes & repeats	Fetal Muscle Leg	muscle
34	chr4:144348200-144353400	ZNF genes & repeats	Liver	Liver
35	chr4:144348600-144355000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
36	chr4:144349400-144353400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
37	chr4:144349400-144359200	Weak transcription	Aorta	Aorta
38	chr4:144350400-144356000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:144350600-144353600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr4:144350800-144354200	Weak transcription	Left Ventricle	heart
41	chr4:144351000-144354600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:144351200-144359400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:144351400-144356800	Weak transcription	Fetal Heart	heart
44	chr4:144351400-144359200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr4:144351400-144359200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr4:144351600-144353800	ZNF genes & repeats	Fetal Intestine Large	intestine
47	chr4:144351600-144354400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:144351600-144354800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr4:144351600-144365000	Weak transcription	NHLF	lung
50	chr4:144351800-144357600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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