Variant report

Variant	rs4648069
Chromosome Location	chr4:103518479-103518480
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:103517813..103519887-chr4:103521880..103524711,2	K562	blood:
2	chr4:103517631..103521191-chr4:103525485..103528516,3	K562	blood:
3	chr4:103514947..103516619-chr4:103518321..103520402,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10489114	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs17032779	1.00[MEX][hapmap]
rs4648016	1.00[MEX][hapmap]
rs4648018	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4648116	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830020	chr4:103387343-103581284	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1003490	chr4:103391483-103521772	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103473400-103524600	Weak transcription	Fetal Brain Male	brain
2	chr4:103483000-103518600	Weak transcription	Small Intestine	intestine
3	chr4:103483400-103541600	Weak transcription	K562	blood
4	chr4:103488200-103520000	Weak transcription	Fetal Kidney	kidney
5	chr4:103490800-103519200	Weak transcription	Stomach Mucosa	stomach
6	chr4:103497600-103533400	Strong transcription	Primary B cells from peripheral blood	blood
7	chr4:103498800-103520600	Weak transcription	Fetal Brain Female	brain
8	chr4:103500200-103527600	Weak transcription	Pancreas	Pancrea
9	chr4:103500400-103522600	Weak transcription	Psoas Muscle	Psoas
10	chr4:103500400-103528200	Weak transcription	Right Ventricle	heart
11	chr4:103502600-103532800	Weak transcription	Brain Germinal Matrix	brain
12	chr4:103508000-103518600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:103508200-103518600	Weak transcription	Esophagus	oesophagus
14	chr4:103508200-103522800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:103508400-103518600	Weak transcription	Thymus	Thymus
16	chr4:103508400-103519200	Weak transcription	Spleen	Spleen
17	chr4:103508400-103522400	Weak transcription	Fetal Stomach	stomach
18	chr4:103508800-103518600	Weak transcription	Aorta	Aorta
19	chr4:103511200-103518600	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr4:103511200-103525000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:103512400-103521600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:103512600-103518600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:103512600-103527600	Weak transcription	Ovary	ovary
24	chr4:103512800-103531800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:103513000-103542000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:103513200-103519000	Strong transcription	HSMM	muscle
27	chr4:103513200-103522800	Weak transcription	Fetal Intestine Small	intestine
28	chr4:103513200-103536200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr4:103513400-103518600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:103514000-103523400	Strong transcription	HepG2	liver
31	chr4:103514200-103519800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:103514400-103526000	Strong transcription	Fetal Intestine Large	intestine
33	chr4:103514600-103535800	Strong transcription	Adipose Nuclei	Adipose
34	chr4:103514600-103538200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:103514600-103539000	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr4:103514800-103519800	Strong transcription	NHDF-Ad	bronchial
37	chr4:103515000-103539000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr4:103515200-103519800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:103515200-103522800	Strong transcription	Liver	Liver
40	chr4:103515200-103533200	Strong transcription	Primary B cells from cord blood	blood
41	chr4:103515200-103533400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr4:103515200-103533600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr4:103515200-103538800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr4:103515400-103518600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:103515400-103519200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:103515400-103520200	Strong transcription	Colon Smooth Muscle	Colon
47	chr4:103515400-103523200	Strong transcription	Dnd41	blood
48	chr4:103515400-103533200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:103515400-103533400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr4:103515400-103533400	Strong transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links