Variant report

Variant	rs7690818
Chromosome Location	chr4:99928912-99928913
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:99915640..99918575-chr4:99928207..99929960,2	MCF-7	breast:
2	chr4:99916096..99918907-chr4:99926368..99931117,8	K562	blood:
3	chr4:99928910..99931471-chr4:99936382..99940065,3	K562	blood:
4	chr4:99927191..99931184-chr4:100009864..100011723,3	MCF-7	breast:
5	chr4:99928450..99930560-chr4:99946443..99948928,2	K562	blood:
6	chr4:99927753..99929345-chr4:99929639..99931295,2	K562	blood:
7	chr4:99923178..99925511-chr4:99928281..99930397,2	MCF-7	breast:
8	chr4:99849534..99851426-chr4:99927160..99929411,2	MCF-7	breast:
9	chr4:99924386..99926113-chr4:99926387..99929039,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265213	Chromatin interaction
ENSG00000164024	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000238449	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000246090	Chromatin interaction
ENSG00000197894	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10014193	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10016255	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10023577	0.85[CEU][hapmap]
rs10035037	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1037475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10433890	0.85[CEU][hapmap]
rs11097643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097645	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721765	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11723037	0.85[CEU][hapmap]
rs11725932	0.82[CEU][hapmap]
rs11730116	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11940529	0.81[EUR][1000 genomes]
rs11944824	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1230159	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs1230160	0.95[ASN][1000 genomes]
rs1230169	0.95[ASN][1000 genomes]
rs1230174	0.90[ASN][1000 genomes]
rs1230175	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs1230178	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs1230179	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs1230182	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs1230186	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs1230195	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs1230196	0.90[CHB][hapmap];0.81[JPT][hapmap];0.95[ASN][1000 genomes]
rs1230197	0.95[ASN][1000 genomes]
rs1230200	0.95[ASN][1000 genomes]
rs1230203	0.88[ASN][1000 genomes]
rs1230205	0.92[CHB][hapmap];0.91[ASN][1000 genomes]
rs1230206	0.92[CHB][hapmap];0.91[ASN][1000 genomes]
rs1230207	0.91[ASN][1000 genomes]
rs1230209	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs1234973	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs12374261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1238741	0.92[CHB][hapmap];0.91[ASN][1000 genomes]
rs12498533	0.84[CEU][hapmap]
rs12512420	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12644580	0.85[CEU][hapmap]
rs1453869	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1453871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1584838	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17028293	0.81[CEU][hapmap]
rs17216446	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1869459	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2123782	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602910	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs28539514	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2866032	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35203362	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3974876	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4699693	0.85[CEU][hapmap]
rs57098596	0.91[ASN][1000 genomes]
rs62323229	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6810489	0.81[CEU][hapmap]
rs6817991	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6822589	0.85[CEU][hapmap];0.82[ASN][1000 genomes]
rs6830125	0.85[CEU][hapmap]
rs6840282	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6840922	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6846221	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6848246	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6850128	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6850293	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6852715	0.85[CEU][hapmap]
rs6854386	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7656935	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7674742	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7676259	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9685029	0.81[EUR][1000 genomes]
rs9685062	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9992105	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99918200-99930200	Weak transcription	Fetal Brain Male	brain
2	chr4:99918200-99930200	Weak transcription	HSMM	muscle
3	chr4:99918200-99931000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:99918200-99931400	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:99918200-99935400	Weak transcription	Ovary	ovary
6	chr4:99918200-99935800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:99918200-99938000	Weak transcription	NHDF-Ad	bronchial
8	chr4:99918600-99930200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:99918600-99930400	Weak transcription	Primary B cells from cord blood	blood
10	chr4:99918600-99937800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:99918600-99938600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr4:99918800-99932200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:99918800-99937800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:99919000-99930200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:99919000-99930200	Weak transcription	Primary T cells from cord blood	blood
16	chr4:99919200-99929600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:99919200-99930400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:99919200-99940000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:99919200-99942000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr4:99919400-99931000	Weak transcription	Fetal Thymus	thymus
21	chr4:99919600-99930200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr4:99920000-99937800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:99920400-99929600	Weak transcription	GM12878-XiMat	blood
24	chr4:99922200-99929000	Weak transcription	Small Intestine	intestine
25	chr4:99923600-99929600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr4:99924000-99931200	Weak transcription	Fetal Intestine Small	intestine
27	chr4:99924000-99931600	Weak transcription	K562	blood
28	chr4:99924200-99941600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:99924200-99943600	Weak transcription	Gastric	stomach
30	chr4:99924600-99929200	Weak transcription	Stomach Mucosa	stomach
31	chr4:99924600-99930200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:99924600-99935400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:99924600-99942000	Weak transcription	Fetal Lung	lung
34	chr4:99925200-99932200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr4:99925400-99940000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:99925600-99939800	Weak transcription	Thymus	Thymus
37	chr4:99925600-99941200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:99925600-99941200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr4:99925800-99931400	Weak transcription	Left Ventricle	heart
40	chr4:99925800-99938800	Weak transcription	Fetal Intestine Large	intestine
41	chr4:99927200-99930400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:99927400-99930000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:99928000-99929000	Genic enhancers	HMEC	breast
44	chr4:99928200-99929200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:99928200-99929200	Strong transcription	Dnd41	blood
46	chr4:99928200-99930000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:99928400-99929000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr4:99928400-99929000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr4:99928400-99929000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr4:99928400-99929000	Enhancers	NHEK	skin

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