Variant report

Variant	rs7436127
Chromosome Location	chr4:48726347-48726348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48725723..48728772-chr4:48781699..48784072,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075539	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10034207	0.84[ASW][hapmap]
rs10049760	0.84[ASW][hapmap]
rs10433725	1.00[AMR][1000 genomes]
rs10938540	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12650202	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13128989	0.92[AFR][1000 genomes]
rs1546653	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1702800	0.86[ASW][hapmap];0.92[MKK][hapmap]
rs1949423	1.00[AMR][1000 genomes]
rs2056197	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2056200	1.00[AMR][1000 genomes]
rs2138866	0.84[ASW][hapmap]
rs2138868	1.00[AMR][1000 genomes]
rs2354313	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2354315	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2940319	0.84[ASW][hapmap]
rs6447654	0.82[AFR][1000 genomes]
rs6845398	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7667909	0.94[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7690793	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs776581	0.84[ASW][hapmap]
rs776582	0.91[MKK][hapmap]
rs776593	0.86[ASW][hapmap];1.00[MKK][hapmap]
rs776594	0.86[ASW][hapmap];1.00[MKK][hapmap]
rs776596	0.86[ASW][hapmap];0.91[MKK][hapmap]
rs776597	0.86[ASW][hapmap];1.00[MKK][hapmap]
rs938789	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv999203	chr4:48645887-48735512	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1013914	chr4:48652784-48728934	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv537090	chr4:48652784-48728934	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv1792683	chr4:48686817-48764009	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv1795181	chr4:48686817-48764009	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv1793455	chr4:48686817-48859142	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1010381	chr4:48701525-49309842	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
14	esv1803597	chr4:48719424-48726347	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv1792281	chr4:48719424-48764009	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv1794245	chr4:48719424-48764009	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv1794757	chr4:48719424-48764009	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
2	chr4:48700200-48730800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:48701000-48729600	Weak transcription	Aorta	Aorta
4	chr4:48705600-48728800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:48709000-48726400	Weak transcription	Ovary	ovary
6	chr4:48712400-48727200	Weak transcription	HSMM	muscle
7	chr4:48712800-48727800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:48712800-48728200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:48712800-48731000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:48713000-48727800	Weak transcription	HMEC	breast
11	chr4:48713000-48728200	Weak transcription	Primary B cells from cord blood	blood
12	chr4:48713000-48728200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr4:48720000-48727800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:48720000-48727800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:48720000-48737000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:48720200-48730000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:48721000-48729400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr4:48721200-48727600	Weak transcription	Small Intestine	intestine
19	chr4:48721200-48730800	Weak transcription	Fetal Intestine Small	intestine
20	chr4:48721400-48729400	Weak transcription	Right Atrium	heart
21	chr4:48721400-48729600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:48723200-48727200	Weak transcription	Pancreas	Pancrea
23	chr4:48723800-48726600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:48724000-48728400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:48724000-48731800	Enhancers	Brain Hippocampus Middle	brain
26	chr4:48724200-48729000	Enhancers	Brain Angular Gyrus	brain
27	chr4:48724400-48732800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr4:48724600-48728800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr4:48724800-48727000	Enhancers	Brain Substantia Nigra	brain
30	chr4:48724800-48727800	Weak transcription	A549	lung
31	chr4:48724800-48728200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr4:48724800-48728600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr4:48724800-48731000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:48725000-48726400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:48725000-48727600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:48725000-48727800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:48725000-48727800	Weak transcription	Primary T cells from cord blood	blood
38	chr4:48725000-48728200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:48725000-48728200	Weak transcription	NH-A	brain
40	chr4:48725200-48726400	Enhancers	Primary T cells fromperipheralblood	blood
41	chr4:48725200-48726400	Enhancers	Brain Cingulate Gyrus	brain
42	chr4:48725200-48726400	Enhancers	Left Ventricle	heart
43	chr4:48725200-48726600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr4:48725200-48726800	Enhancers	HUVEC	blood vessel
45	chr4:48725200-48728200	Weak transcription	HepG2	liver
46	chr4:48725400-48726400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr4:48725400-48726600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:48725400-48727600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:48725400-48727600	Weak transcription	NHEK	skin
50	chr4:48725400-48729400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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