Variant report

Variant	rs7700141
Chromosome Location	chr4:48433912-48433913
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10004425	0.81[AFR][1000 genomes]
rs10024547	0.82[AFR][1000 genomes]
rs10517217	0.86[JPT][hapmap]
rs1055720	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1055721	0.90[JPT][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11934876	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13105691	0.89[ASN][1000 genomes]
rs13141335	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs13145421	0.91[ASN][1000 genomes]
rs17655838	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17655898	0.91[ASN][1000 genomes]
rs28636546	0.81[AFR][1000 genomes]
rs28659782	0.89[AFR][1000 genomes]
rs309890	0.80[JPT][hapmap]
rs4695382	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4695383	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6447631	0.90[JPT][hapmap]
rs66894522	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7434434	0.94[ASN][1000 genomes]
rs7441842	0.94[ASN][1000 genomes]
rs7655066	0.90[JPT][hapmap]
rs7658851	0.82[AFR][1000 genomes]
rs7662325	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7664981	0.94[JPT][hapmap];0.88[YRI][hapmap]
rs7688310	0.91[JPT][hapmap]
rs9884339	0.84[AFR][1000 genomes]
rs9992736	0.91[JPT][hapmap]
rs9999482	0.91[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]

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	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48391600-48434000	Weak transcription	Fetal Heart	heart
2	chr4:48422600-48434400	Weak transcription	Brain Germinal Matrix	brain
3	chr4:48423400-48438200	Weak transcription	Fetal Intestine Small	intestine
4	chr4:48425200-48441600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:48425400-48438400	Weak transcription	HSMMtube	muscle
6	chr4:48425800-48434000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:48425800-48434200	Weak transcription	Thymus	Thymus
8	chr4:48425800-48438400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:48425800-48438600	Weak transcription	Fetal Intestine Large	intestine
10	chr4:48426000-48438200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:48426000-48442000	Weak transcription	K562	blood
12	chr4:48430200-48434800	Weak transcription	HSMM	muscle
13	chr4:48430200-48438600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:48430600-48434600	Weak transcription	Primary B cells from cord blood	blood
15	chr4:48431000-48434400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:48431000-48438400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:48431200-48434200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr4:48431600-48434200	Enhancers	Primary T cells from cord blood	blood
19	chr4:48431600-48434200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr4:48431600-48434200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr4:48431800-48434000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr4:48431800-48434000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr4:48432800-48434000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:48432800-48434200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr4:48433000-48434000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:48433000-48434200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr4:48433200-48434000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr4:48433200-48434200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:48433200-48434400	Enhancers	HMEC	breast
30	chr4:48433200-48434400	Enhancers	NHEK	skin
31	chr4:48433400-48434000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr4:48433400-48434000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:48433400-48434200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr4:48433400-48434600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr4:48433400-48438400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:48433600-48434000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:48433800-48434000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr4:48433800-48434000	Enhancers	Aorta	Aorta
39	chr4:48433800-48434000	Enhancers	Esophagus	oesophagus
40	chr4:48433800-48434000	Enhancers	Placenta	Placenta
41	chr4:48433800-48434000	Enhancers	Fetal Thymus	thymus
42	chr4:48433800-48434000	Enhancers	Left Ventricle	heart
43	chr4:48433800-48434400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:48433800-48434400	Enhancers	Gastric	stomach
45	chr4:48433800-48434600	Enhancers	Stomach Mucosa	stomach

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