Variant report

Variant	rs4252801
Chromosome Location	chr4:77991918-77991919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:77898148..77900686-chr4:77990889..77992486,2	K562	blood:
2	chr4:77990028..77993764-chr4:78075523..78079843,5	K562	blood:
3	chr4:77967457..77969827-chr4:77991590..77994331,2	K562	blood:
4	chr4:77974993..77977129-chr4:77990515..77992237,2	K562	blood:
5	chr4:77977197..77979192-chr4:77991457..77995421,4	K562	blood:
6	chr4:77979701..77986849-chr4:77990863..77998763,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138764	Chromatin interaction
ENSG00000118816	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17002333	1.00[AMR][1000 genomes]
rs4252787	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4252798	1.00[AMR][1000 genomes]
rs4252805	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4252824	1.00[AMR][1000 genomes]
rs4252825	1.00[AMR][1000 genomes]
rs4252830	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4252852	1.00[AMR][1000 genomes]
rs4252854	1.00[AMR][1000 genomes]
rs4252860	1.00[AMR][1000 genomes]
rs4252871	1.00[AMR][1000 genomes]
rs4252874	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4252888	1.00[AMR][1000 genomes]
rs4252893	1.00[AMR][1000 genomes]
rs4252901	1.00[AMR][1000 genomes]
rs4252902	1.00[AMR][1000 genomes]
rs4252908	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4252914	1.00[AMR][1000 genomes]
rs4252915	1.00[AMR][1000 genomes]
rs4252916	1.00[AMR][1000 genomes]
rs4252933	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4252948	0.90[AFR][1000 genomes]
rs4252954	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61074816	1.00[AMR][1000 genomes]
rs6850215	0.86[AFR][1000 genomes]
rs7662415	0.86[AFR][1000 genomes]
rs7669100	0.86[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879499	chr4:77990904-78003416	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77957000-77993600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:77957000-77994200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:77966600-77992800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:77967200-77993200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:77969800-77994400	Weak transcription	Stomach Mucosa	stomach
6	chr4:77970400-77994800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:77973800-77994400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:77974000-77994800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:77975800-77995600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:77976400-77993000	Weak transcription	Fetal Brain Male	brain
11	chr4:77976600-77992600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:77980000-77994800	Weak transcription	Colonic Mucosa	Colon
13	chr4:77981400-77992400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:77981400-77994000	Weak transcription	Hela-S3	cervix
15	chr4:77983600-77992000	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:77983600-77994000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:77983600-77994800	Weak transcription	Esophagus	oesophagus
18	chr4:77983600-77995400	Weak transcription	Gastric	stomach
19	chr4:77983800-77993200	Weak transcription	Aorta	Aorta
20	chr4:77984400-77993800	Weak transcription	A549	lung
21	chr4:77984400-77993800	Weak transcription	HSMMtube	muscle
22	chr4:77985200-77992600	Weak transcription	NHLF	lung
23	chr4:77985600-77993600	Weak transcription	Brain Angular Gyrus	brain
24	chr4:77985800-77993600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:77985800-77994200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:77986000-77993600	Weak transcription	Brain Substantia Nigra	brain
27	chr4:77986000-77994600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:77986200-77994400	Weak transcription	Right Ventricle	heart
29	chr4:77986400-77992800	Weak transcription	Brain Germinal Matrix	brain
30	chr4:77987400-77992600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:77987400-77993200	Weak transcription	HMEC	breast
32	chr4:77987400-77993800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr4:77987400-77993800	Weak transcription	Fetal Lung	lung
34	chr4:77987400-77994000	Weak transcription	Fetal Kidney	kidney
35	chr4:77987400-77995400	Weak transcription	Lung	lung
36	chr4:77987600-77992200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr4:77987600-77992600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:77987600-77992800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:77987600-77992800	Weak transcription	NHEK	skin
40	chr4:77987600-77993000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:77987600-77993000	Weak transcription	Fetal Intestine Large	intestine
42	chr4:77987600-77993000	Weak transcription	HUVEC	blood vessel
43	chr4:77987600-77993200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:77987600-77993200	Weak transcription	Fetal Brain Female	brain
45	chr4:77987600-77993400	Weak transcription	Fetal Muscle Leg	muscle
46	chr4:77987600-77993400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr4:77987600-77993400	Weak transcription	NH-A	brain
48	chr4:77987600-77993400	Weak transcription	NHDF-Ad	bronchial
49	chr4:77987600-77993600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr4:77987600-77993600	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links