Variant report

Variant	rs55848625
Chromosome Location	chr4:174223401-174223402
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:174223260-174223410	HCM	heart:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:173934362..173935304-chr4:174222401..174223403,6	K562	blood:
2	chr4:174222819..174224476-chr4:174307676..174309389,2	K562	blood:
3	chr4:174223366..174225016-chr4:174252985..174255576,2	K562	blood:
4	chr4:173934377..173935350-chr4:174222613..174223693,4	MCF-7	breast:
5	chr4:174221776..174224319-chr4:174307795..174309389,2	K562	blood:

No data

Variant related genes	Relation type
GALNT7	TF binding region
ENSG00000164104	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1812790	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55668552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6817741	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6840382	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73872505	0.85[AMR][1000 genomes]
rs73872508	0.85[AMR][1000 genomes]
rs73872532	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73872534	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73872535	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73872537	0.85[AMR][1000 genomes]
rs73872540	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73872541	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73872542	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73872543	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73872545	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73872549	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73872550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73872551	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7662281	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7666228	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7675672	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7684771	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7684941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7684968	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][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	nsv4610	chr4:174217026-174252627	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174206200-174229000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr4:174206400-174249400	Weak transcription	Fetal Kidney	kidney
3	chr4:174207800-174232600	Weak transcription	Ovary	ovary
4	chr4:174208800-174230400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:174209000-174223600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:174209000-174225200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr4:174209000-174228600	Weak transcription	Esophagus	oesophagus
8	chr4:174209000-174233400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:174209000-174235000	Weak transcription	Colonic Mucosa	Colon
10	chr4:174209200-174226800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr4:174210400-174226600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:174210400-174235400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:174210400-174253000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr4:174210400-174253000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:174210600-174228600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr4:174210600-174235200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr4:174210600-174235200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:174210600-174240200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:174210600-174253000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr4:174210800-174228400	Weak transcription	Small Intestine	intestine
21	chr4:174210800-174236200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:174210800-174252000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:174211200-174225000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:174212200-174228000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:174212200-174228200	Weak transcription	Fetal Intestine Small	intestine
26	chr4:174212400-174228200	Weak transcription	Fetal Stomach	stomach
27	chr4:174213600-174237200	Weak transcription	NHEK	skin
28	chr4:174213800-174235400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:174214800-174235600	Weak transcription	Adipose Nuclei	Adipose
30	chr4:174215000-174228600	Weak transcription	Spleen	Spleen
31	chr4:174215000-174239400	Weak transcription	HUVEC	blood vessel
32	chr4:174215200-174225600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:174215200-174228000	Weak transcription	Fetal Muscle Leg	muscle
34	chr4:174215200-174228400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:174215200-174228600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:174215200-174228600	Weak transcription	Gastric	stomach
37	chr4:174215200-174228600	Weak transcription	Lung	lung
38	chr4:174215200-174232800	Weak transcription	Pancreas	Pancrea
39	chr4:174215200-174233400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:174215200-174235200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:174215200-174236000	Weak transcription	Aorta	Aorta
42	chr4:174215200-174239600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr4:174215200-174249600	Weak transcription	Left Ventricle	heart
44	chr4:174215200-174254000	Weak transcription	Psoas Muscle	Psoas
45	chr4:174215800-174225800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr4:174217200-174224600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:174217200-174236000	Weak transcription	Stomach Mucosa	stomach
48	chr4:174217600-174225000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:174217600-174253000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:174218000-174225200	Weak transcription	H1 Cell Line	embryonic stem cell

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