Variant report

Variant	rs7671198
Chromosome Location	chr4:143470929-143470930
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:143470903..143473181-chr4:143503452..143506011,2	MCF-7	breast:
2	chr4:143470148..143471805-chr4:143527645..143530325,2	MCF-7	breast:
3	chr4:143422833..143425725-chr4:143470115..143471682,2	MCF-7	breast:
4	chr4:143451539..143454827-chr4:143468974..143471578,3	MCF-7	breast:
5	chr4:143390493..143399629-chr4:143464669..143473703,24	MCF-7	breast:
6	chr4:143470482..143472862-chr4:143765653..143767436,2	MCF-7	breast:
7	chr4:143455514..143457916-chr4:143469730..143472176,3	MCF-7	breast:
8	chr4:143436234..143437895-chr4:143469778..143471517,2	MCF-7	breast:
9	chr4:143469458..143471257-chr4:143473239..143475404,2	MCF-7	breast:
10	chr4:143469197..143474225-chr4:143534708..143538333,6	MCF-7	breast:
11	chr4:143469254..143471063-chr4:143535925..143538743,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10013367	0.87[ASN][1000 genomes]
rs10519649	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11100748	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11100749	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11100750	0.87[ASN][1000 genomes]
rs1160379	0.82[ASN][1000 genomes]
rs11930912	0.80[EUR][1000 genomes]
rs11939291	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11943687	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12504375	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12504378	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12504770	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12645394	0.80[ASN][1000 genomes]
rs13144094	0.84[ASN][1000 genomes]
rs1425518	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1425519	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1476122	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1559709	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16998558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17016344	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17016354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17016379	0.88[ASN][1000 genomes]
rs17717651	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1963849	0.88[ASN][1000 genomes]
rs1974940	0.87[ASN][1000 genomes]
rs2059510	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2059511	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2059513	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2217016	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34007357	0.82[ASN][1000 genomes]
rs34223306	0.86[ASN][1000 genomes]
rs35854467	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4246729	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4524461	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4975306	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4975312	0.87[ASN][1000 genomes]
rs4975313	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975314	0.87[ASN][1000 genomes]
rs4975316	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4975317	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4975318	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57201046	0.88[ASN][1000 genomes]
rs57260347	0.88[ASN][1000 genomes]
rs58078405	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58899027	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59732892	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60951295	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61104737	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61142249	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6537109	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6537110	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67078907	0.87[ASN][1000 genomes]
rs67311549	0.88[ASN][1000 genomes]
rs67900719	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6814775	0.88[ASN][1000 genomes]
rs6816875	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6826090	0.87[ASN][1000 genomes]
rs7655599	0.87[ASN][1000 genomes]
rs890191	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs890192	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv461660	chr4:143437219-143538179	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv595605	chr4:143437219-143538179	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143461400-143471000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr4:143463000-143472200	Weak transcription	Aorta	Aorta
3	chr4:143465600-143472800	Weak transcription	Fetal Lung	lung
4	chr4:143466000-143471200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:143466600-143471000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:143468400-143473400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:143468600-143472600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:143468600-143473200	Enhancers	Fetal Intestine Small	intestine
9	chr4:143468800-143480000	Weak transcription	Left Ventricle	heart
10	chr4:143469000-143473400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:143469200-143472600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr4:143469400-143472400	Weak transcription	Small Intestine	intestine
13	chr4:143469400-143477200	Weak transcription	Psoas Muscle	Psoas
14	chr4:143469600-143471200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr4:143469600-143472400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:143469800-143471000	Weak transcription	NHDF-Ad	bronchial
17	chr4:143470000-143473200	Enhancers	NH-A	brain
18	chr4:143470200-143471400	Enhancers	A549	lung
19	chr4:143470200-143471600	Flanking Active TSS	NHEK	skin
20	chr4:143470200-143472600	Enhancers	Fetal Intestine Large	intestine
21	chr4:143470200-143472800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:143470200-143473600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:143470200-143474800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr4:143470200-143477400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr4:143470400-143471000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:143470400-143471000	Flanking Active TSS	HMEC	breast
27	chr4:143470400-143471200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr4:143470400-143471400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:143470400-143471400	Enhancers	Esophagus	oesophagus
30	chr4:143470400-143471600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:143470400-143471600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr4:143470400-143472200	Enhancers	Fetal Heart	heart
33	chr4:143470400-143472400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr4:143470400-143472400	Enhancers	Hela-S3	cervix
35	chr4:143470400-143472400	Enhancers	HUVEC	blood vessel
36	chr4:143470400-143472600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:143470400-143473200	Enhancers	HSMM	muscle
38	chr4:143470400-143478000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr4:143470600-143471400	Enhancers	Primary T cells from cord blood	blood
40	chr4:143470600-143471400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:143470600-143471400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:143470600-143471600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr4:143470600-143471600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr4:143470600-143471600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr4:143470600-143472600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr4:143470600-143473200	Enhancers	Osteobl	bone
47	chr4:143470600-143474200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:143470600-143475000	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr4:143470800-143471200	Enhancers	Primary hematopoietic stem cells	blood
50	chr4:143470800-143471200	Weak transcription	Placenta Amnion	Placenta Amnion

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