Variant report

Variant	rs7188077
Chromosome Location	chr16:30770267-30770268
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr16:30770210-30770874	NB4	blood:	n/a	n/a
2	POLR2A	chr16:30770251-30770485	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr16:30770189-30770981	NB4	blood:	n/a	n/a
4	SPI1	chr16:30770031-30770998	HL-60	blood:	n/a	chr16:30770432-30770445
5	SPI1	chr16:30770249-30770402	GM12878	blood:	n/a	n/a
6	SPI1	chr16:30770227-30770493	GM12891	blood:	n/a	chr16:30770432-30770445
7	SPI1	chr16:30770157-30770958	HL-60	blood:	n/a	chr16:30770432-30770445
8	POLR2A	chr16:30770212-30771229	GM12892	blood:	n/a	n/a
9	POLR2A	chr16:30770058-30771291	HL-60	blood:	n/a	n/a
10	ELF1	chr16:30770252-30770683	GM12878	blood:	n/a	n/a
11	POLR2A	chr16:30770106-30771174	K562	blood:	n/a	n/a
12	MTA3	chr16:30770075-30770609	GM12878	blood:	n/a	n/a
13	SPI1	chr16:30770223-30770539	GM12878	blood:	n/a	chr16:30770432-30770445
14	POLR2A	chr16:30770242-30771165	A549	lung:	n/a	n/a
15	POLR2A	chr16:30770018-30771086	HL-60	blood:	n/a	n/a
16	MAX	chr16:30770217-30771128	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:30708170..30712232-chr16:30770048..30773747,7	MCF-7	breast:
2	chr16:30750779..30752819-chr16:30767787..30770297,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHKG2-1	chr16:30770176-30772490	NONHSAT141810

Variant related genes	Relation type
RNF40	TF binding region
ENSG00000261840	Chromatin interaction
ENSG00000260899	Chromatin interaction
ENSG00000080603	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10782000	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs11150594	1.00[AMR][1000 genomes]
rs11150595	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs11648654	1.00[AMR][1000 genomes]
rs12596375	1.00[ASW][hapmap];1.00[LWK][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12596394	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12598056	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12931844	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12933849	1.00[AMR][1000 genomes]
rs1530203	0.89[ASW][hapmap];0.80[YRI][hapmap]
rs1550477	0.89[ASW][hapmap];1.00[LWK][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2053426	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2099754	0.89[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2099755	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919427	1.00[ASW][hapmap]
rs2919430	1.00[AMR][1000 genomes]
rs2919431	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2919432	1.00[AMR][1000 genomes]
rs2919433	1.00[AMR][1000 genomes]
rs2972804	1.00[AMR][1000 genomes]
rs2972815	1.00[AMR][1000 genomes]
rs4268760	0.81[AFR][1000 genomes]
rs4617878	0.89[ASW][hapmap];1.00[LWK][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889488	1.00[AMR][1000 genomes]
rs4889494	1.00[AMR][1000 genomes]
rs4889500	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889501	1.00[AMR][1000 genomes]
rs4889503	1.00[AMR][1000 genomes]
rs4889504	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889505	1.00[AMR][1000 genomes]
rs4889507	0.88[AFR][1000 genomes]
rs4889508	1.00[AMR][1000 genomes]
rs4889509	0.89[ASW][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap]
rs4889510	1.00[AMR][1000 genomes]
rs4889528	1.00[AMR][1000 genomes]
rs55635617	1.00[AMR][1000 genomes]
rs56038936	1.00[AMR][1000 genomes]
rs56209507	1.00[AMR][1000 genomes]
rs57225118	1.00[AMR][1000 genomes]
rs57643871	1.00[AMR][1000 genomes]
rs57877247	1.00[AMR][1000 genomes]
rs6565203	1.00[AMR][1000 genomes]
rs6565204	1.00[AMR][1000 genomes]
rs6565205	1.00[AMR][1000 genomes]
rs6565208	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs6565209	1.00[AMR][1000 genomes]
rs6565210	1.00[AMR][1000 genomes]
rs71380412	0.81[AFR][1000 genomes]
rs7185136	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7193412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7194763	1.00[AMR][1000 genomes]
rs7195583	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7195612	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs73524581	1.00[AMR][1000 genomes]
rs73524584	1.00[AMR][1000 genomes]
rs73536457	1.00[AMR][1000 genomes]
rs73536466	1.00[AMR][1000 genomes]
rs73536474	1.00[AMR][1000 genomes]
rs73536488	1.00[AMR][1000 genomes]
rs73536498	1.00[AMR][1000 genomes]
rs73536499	1.00[AMR][1000 genomes]
rs8045484	0.89[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap]
rs8045550	1.00[AMR][1000 genomes]
rs8045624	0.89[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8046609	1.00[AMR][1000 genomes]
rs8047743	1.00[AMR][1000 genomes]
rs8048656	1.00[AMR][1000 genomes]
rs8049589	1.00[AMR][1000 genomes]
rs8050578	1.00[AMR][1000 genomes]
rs8056105	0.96[AFR][1000 genomes]
rs8058475	1.00[AMR][1000 genomes]
rs893926	0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs893927	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9319586	0.87[AFR][1000 genomes]
rs9921630	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926855	0.91[AFR][1000 genomes]
rs9934046	1.00[AMR][1000 genomes]
rs9941201	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9941300	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
7	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
8	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
9	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
10	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
11	nsv9438	chr16:30770203-30799442	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30760000-30772400	Weak transcription	Stomach Mucosa	stomach
2	chr16:30760200-30772200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr16:30760400-30772200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr16:30760400-30772200	Weak transcription	Fetal Heart	heart
5	chr16:30760400-30772200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:30760400-30772200	Weak transcription	Small Intestine	intestine
7	chr16:30760600-30772200	Weak transcription	Psoas Muscle	Psoas
8	chr16:30760600-30772600	Weak transcription	Right Atrium	heart
9	chr16:30760800-30771200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr16:30761000-30772000	Strong transcription	Fetal Intestine Small	intestine
11	chr16:30761200-30771200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr16:30761200-30771200	Strong transcription	Placenta Amnion	Placenta Amnion
13	chr16:30761200-30771400	Strong transcription	Fetal Stomach	stomach
14	chr16:30761200-30771600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr16:30761200-30771800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:30761200-30771800	Strong transcription	NHLF	lung
17	chr16:30761200-30772000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr16:30761200-30772200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr16:30761400-30771200	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr16:30761400-30771200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr16:30761400-30771400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr16:30761400-30772000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr16:30761800-30770800	Strong transcription	Brain Anterior Caudate	brain
24	chr16:30761800-30771000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr16:30761800-30771400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr16:30761800-30771400	Strong transcription	Stomach Smooth Muscle	stomach
27	chr16:30762000-30772000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:30762200-30770600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr16:30762200-30771000	Strong transcription	Dnd41	blood
30	chr16:30762200-30772000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr16:30762400-30770400	Strong transcription	Duodenum Mucosa	Duodenum
32	chr16:30762400-30771000	Strong transcription	Brain Angular Gyrus	brain
33	chr16:30762400-30771200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr16:30762400-30771600	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr16:30762600-30770600	Strong transcription	Fetal Intestine Large	intestine
36	chr16:30762600-30770800	Strong transcription	Brain Hippocampus Middle	brain
37	chr16:30763000-30770600	Weak transcription	K562	blood
38	chr16:30764200-30771600	Strong transcription	Fetal Brain Female	brain
39	chr16:30765200-30772200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:30765800-30772200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr16:30766200-30771800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr16:30766400-30772000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr16:30766400-30772000	Weak transcription	HSMM	muscle
44	chr16:30766400-30772200	Weak transcription	Fetal Kidney	kidney
45	chr16:30766600-30770800	Strong transcription	Liver	Liver
46	chr16:30766600-30772200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr16:30766800-30771600	Weak transcription	Hela-S3	cervix
48	chr16:30766800-30772200	Weak transcription	NH-A	brain
49	chr16:30767600-30771200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr16:30767600-30771800	Weak transcription	Fetal Brain Male	brain

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