Variant report

Variant	rs2299998
Chromosome Location	chr7:107876804-107876805
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107872529..107874064-chr7:107876673..107878987,2	K562	blood:
2	chr7:107872262..107874064-chr7:107876673..107879792,3	K562	blood:
3	chr7:107876262..107880228-chr7:107881890..107885799,6	MCF-7	breast:
4	chr7:107867953..107871248-chr7:107875494..107877512,3	K562	blood:
5	chr7:107876529..107879004-chr7:107987282..107988913,2	MCF-7	breast:
6	chr7:107874811..107876975-chr7:107889006..107891244,2	K562	blood:
7	chr7:107875919..107879623-chr7:107880084..107882583,5	K562	blood:

Variant related genes	Relation type
ENSG00000091129	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10224607	1.00[CEU][hapmap]
rs10257555	1.00[CEU][hapmap]
rs10464622	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10464623	0.95[EUR][1000 genomes]
rs10464625	0.95[EUR][1000 genomes]
rs10464626	0.95[EUR][1000 genomes]
rs10464627	0.90[EUR][1000 genomes]
rs10464628	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs12531903	1.00[CEU][hapmap]
rs12665964	0.91[EUR][1000 genomes]
rs12667098	0.95[EUR][1000 genomes]
rs12667131	0.95[EUR][1000 genomes]
rs12667151	0.95[EUR][1000 genomes]
rs12667206	0.95[EUR][1000 genomes]
rs12669568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12671199	0.85[EUR][1000 genomes]
rs12672376	0.90[EUR][1000 genomes]
rs12674151	0.95[EUR][1000 genomes]
rs12674313	0.81[EUR][1000 genomes]
rs16872446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16872448	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872465	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16872472	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16872481	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17155207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17155253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17155277	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]
rs17155280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17155301	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17155316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17155345	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17155362	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17155369	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17155400	1.00[YRI][hapmap]
rs2072320	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2272618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284279	1.00[CEU][hapmap]
rs2284281	1.00[CEU][hapmap]
rs2299988	1.00[CEU][hapmap]
rs2300001	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2300004	1.00[EUR][1000 genomes]
rs2300005	1.00[EUR][1000 genomes]
rs2300006	1.00[EUR][1000 genomes]
rs2300007	0.95[EUR][1000 genomes]
rs2300008	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2300009	0.95[EUR][1000 genomes]
rs2300010	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs2300011	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs3750140	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3753152	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3801929	1.00[CEU][hapmap]
rs3817670	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730303	1.00[YRI][hapmap]
rs55772998	1.00[EUR][1000 genomes]
rs58432175	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58523350	1.00[EUR][1000 genomes]
rs58799340	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59173255	1.00[EUR][1000 genomes]
rs60368937	0.90[AMR][1000 genomes]
rs60503554	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61040788	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61057696	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67456250	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67592649	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67940074	0.95[EUR][1000 genomes]
rs6956041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6956711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964394	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6966259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6970634	0.86[EUR][1000 genomes]
rs6978117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73197646	0.80[AMR][1000 genomes]
rs73199578	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73199594	0.95[EUR][1000 genomes]
rs73199595	0.95[EUR][1000 genomes]
rs73199599	0.95[EUR][1000 genomes]
rs73199600	0.95[EUR][1000 genomes]
rs73201503	1.00[EUR][1000 genomes]
rs73201504	1.00[EUR][1000 genomes]
rs73201511	1.00[EUR][1000 genomes]
rs73201512	1.00[EUR][1000 genomes]
rs73201513	1.00[EUR][1000 genomes]
rs73201515	1.00[EUR][1000 genomes]
rs73414373	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73727511	0.95[EUR][1000 genomes]
rs73727512	0.95[EUR][1000 genomes]
rs7777092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7777322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7783944	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796457	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9641405	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv831089	chr7:107687618-107877240	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	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	chr7:107830400-107886400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:107860600-107886600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:107863800-107877200	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:107867800-107878000	Weak transcription	Brain Angular Gyrus	brain
5	chr7:107871200-107880000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:107871200-107886400	Weak transcription	Brain Anterior Caudate	brain
7	chr7:107871600-107879800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:107873800-107877000	Enhancers	HSMM	muscle
9	chr7:107874400-107879200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:107874600-107877000	Enhancers	HMEC	breast
11	chr7:107874600-107878000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:107874800-107886200	Weak transcription	HSMMtube	muscle
13	chr7:107875000-107877600	Enhancers	Primary hematopoietic stem cells	blood
14	chr7:107875200-107877000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:107875200-107877600	Enhancers	HUVEC	blood vessel
16	chr7:107875200-107881200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:107875600-107877000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:107875600-107877800	Enhancers	Fetal Intestine Small	intestine
19	chr7:107875600-107879600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:107875800-107877000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr7:107875800-107877000	Flanking Active TSS	K562	blood
22	chr7:107875800-107877800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr7:107875800-107881600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:107876000-107877800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr7:107876000-107877800	Enhancers	Placenta	Placenta
26	chr7:107876000-107877800	Enhancers	Pancreas	Pancrea
27	chr7:107876000-107878000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:107876000-107878400	Enhancers	Fetal Intestine Large	intestine
29	chr7:107876000-107881000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:107876000-107881200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:107876200-107877000	Enhancers	Small Intestine	intestine
32	chr7:107876200-107877400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:107876200-107878000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:107876200-107878200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr7:107876200-107878600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr7:107876200-107880800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr7:107876200-107881200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr7:107876200-107881200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:107876200-107881200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr7:107876400-107877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:107876400-107886400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:107876600-107877600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:107876600-107877600	Weak transcription	GM12878-XiMat	blood
44	chr7:107876600-107877800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:107876800-107877000	Flanking Active TSS	A549	lung

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