Variant report

Variant	rs798940
Chromosome Location	chr7:120748775-120748776
allele	A/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:120747233..120749938-chr7:120774365..120776379,3	K562	blood:
2	chr7:120598328..120601764-chr7:120747067..120750480,4	K562	blood:
3	chr7:120732885..120735517-chr7:120747045..120751097,5	K562	blood:
4	chr7:120626686..120628740-chr7:120746587..120749245,2	K562	blood:
5	chr7:120745612..120749676-chr7:120751128..120754629,5	K562	blood:
6	chr7:120627349..120628383-chr7:120747676..120749167,11	K562	blood:
7	chr7:120628746..120630644-chr7:120748164..120750985,2	K562	blood:
8	chr7:120748117..120751439-chr7:120760191..120762453,3	K562	blood:
9	chr7:120739132..120740761-chr7:120746818..120749642,2	K562	blood:
10	chr7:120744759..120747111-chr7:120748384..120750272,2	K562	blood:
11	chr7:120633517..120635365-chr7:120747821..120749395,2	K562	blood:
12	chr7:120561753..120563679-chr7:120747463..120748993,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10228942	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1024743	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10248019	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10268570	1.00[JPT][hapmap]
rs11979342	0.87[EUR][1000 genomes]
rs11981613	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs11983939	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12706322	1.00[CEU][hapmap]
rs13221538	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13229354	1.00[CEU][hapmap]
rs13233295	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs13235373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13238393	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap]
rs1404267	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17143194	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17283542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2160013	0.92[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs2192289	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2402554	1.00[JPT][hapmap]
rs2402561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2538491	1.00[JPT][hapmap]
rs2538492	0.83[CHD][hapmap]
rs2721349	1.00[JPT][hapmap]
rs2721375	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2908572	1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs2908574	0.93[EUR][1000 genomes]
rs2968344	0.95[EUR][1000 genomes]
rs34143330	0.84[EUR][1000 genomes]
rs34269514	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34362455	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34385410	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34638154	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35370706	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35411566	0.86[EUR][1000 genomes]
rs4140913	1.00[JPT][hapmap]
rs4144090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs4593468	0.89[EUR][1000 genomes]
rs6956851	1.00[JPT][hapmap]
rs6962260	1.00[JPT][hapmap]
rs6976513	0.84[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs73433997	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73436037	0.86[EUR][1000 genomes]
rs759157	0.83[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs7790569	0.83[CEU][hapmap];0.91[EUR][1000 genomes]
rs798932	0.92[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs798937	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs798938	0.86[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs798939	0.92[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs798942	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs798944	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs798945	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs798947	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs798948	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs798950	0.89[ASN][1000 genomes]
rs9641653	1.00[JPT][hapmap]
rs9690143	1.00[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS 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	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1019025	chr7:120667937-120918696	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	9 gene(s)	inside rSNPs	diseases
10	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv889118	chr7:120683751-120800837	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv889119	chr7:120688463-120800837	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv889120	chr7:120691417-120800837	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv428506	chr7:120719434-120891759	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
16	nsv523626	chr7:120738269-120763212	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv528485	chr7:120746209-120763212	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv889121	chr7:120747228-120869464	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs798940	FAM3C	cis	lymphoblastoid	seeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120711400-120790600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:120725800-120761800	Weak transcription	Fetal Stomach	stomach
3	chr7:120727800-120756400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:120735400-120784000	Weak transcription	Right Ventricle	heart
5	chr7:120738200-120749200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:120740400-120753000	Weak transcription	Osteobl	bone
7	chr7:120740600-120758800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:120740800-120786000	Weak transcription	Fetal Lung	lung
9	chr7:120741400-120782200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:120741800-120765600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:120742000-120810000	Weak transcription	Psoas Muscle	Psoas
12	chr7:120742800-120752000	Weak transcription	Aorta	Aorta
13	chr7:120742800-120765000	Weak transcription	NHDF-Ad	bronchial
14	chr7:120742800-120771800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:120743000-120750600	Weak transcription	Ovary	ovary
16	chr7:120743000-120765400	Weak transcription	Left Ventricle	heart
17	chr7:120743000-120784200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:120743400-120778200	Strong transcription	K562	blood
19	chr7:120743600-120749000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:120743600-120752800	Weak transcription	HMEC	breast
21	chr7:120743800-120748800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:120743800-120753200	Weak transcription	HSMMtube	muscle
23	chr7:120743800-120765600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:120745600-120749200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:120746200-120768000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:120746200-120777800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:120746400-120750200	Weak transcription	NHLF	lung
28	chr7:120747400-120752000	Weak transcription	Liver	Liver
29	chr7:120748000-120748800	Weak transcription	HSMM	muscle
30	chr7:120748000-120749800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr7:120748000-120750000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:120748200-120749200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:120748200-120752600	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links