Variant report

Variant	rs11860636
Chromosome Location	chr16:46648261-46648262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10902629	1.00[AMR][1000 genomes]
rs12598707	1.00[AMR][1000 genomes]
rs1436435	1.00[ASW][hapmap];1.00[LWK][hapmap];0.87[YRI][hapmap]
rs1530895	1.00[AMR][1000 genomes]
rs1641120	1.00[AMR][1000 genomes]
rs1645939	1.00[ASW][hapmap];1.00[LWK][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1651658	1.00[AMR][1000 genomes]
rs1651659	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs166096	1.00[AMR][1000 genomes]
rs168745	1.00[AMR][1000 genomes]
rs1698957	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs185213	1.00[MKK][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs1865837	1.00[ASW][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1865838	1.00[AMR][1000 genomes]
rs194054	1.00[AMR][1000 genomes]
rs194055	1.00[AMR][1000 genomes]
rs1992075	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1992078	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2011677	0.85[AFR][1000 genomes]
rs2033673	1.00[AMR][1000 genomes]
rs2164516	1.00[AFR][1000 genomes]
rs2334116	0.87[YRI][hapmap]
rs250420	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs250421	0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252723	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs252724	1.00[AMR][1000 genomes]
rs252725	1.00[AMR][1000 genomes]
rs252727	1.00[ASW][hapmap];1.00[LWK][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs252728	1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs252732	1.00[AMR][1000 genomes]
rs252733	1.00[AMR][1000 genomes]
rs252734	1.00[AMR][1000 genomes]
rs28185	1.00[AMR][1000 genomes]
rs36309	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36311	1.00[AMR][1000 genomes]
rs36313	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36314	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36317	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36459	1.00[AMR][1000 genomes]
rs36460	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap]
rs36461	1.00[AMR][1000 genomes]
rs36463	1.00[AMR][1000 genomes]
rs36465	1.00[AMR][1000 genomes]
rs36466	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs36467	1.00[AMR][1000 genomes]
rs36470	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs36473	1.00[AMR][1000 genomes]
rs36474	1.00[AMR][1000 genomes]
rs36475	1.00[AMR][1000 genomes]
rs36477	1.00[AMR][1000 genomes]
rs36480	1.00[MKK][hapmap];0.87[YRI][hapmap]
rs36482	1.00[AMR][1000 genomes]
rs40164	1.00[AMR][1000 genomes]
rs408906	0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41232	1.00[AMR][1000 genomes]
rs414928	1.00[AMR][1000 genomes]
rs420560	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs425556	1.00[AMR][1000 genomes]
rs438275	1.00[AMR][1000 genomes]
rs449778	1.00[AMR][1000 genomes]
rs4640213	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap]
rs4966488	0.87[YRI][hapmap]
rs4966571	1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4966603	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4967248	0.83[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4967259	0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4967594	1.00[AMR][1000 genomes]
rs4967595	1.00[AMR][1000 genomes]
rs62057622	1.00[AMR][1000 genomes]
rs633699	1.00[AMR][1000 genomes]
rs637583	1.00[AMR][1000 genomes]
rs6598600	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap]
rs6598601	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap]
rs6598661	1.00[AMR][1000 genomes]
rs6598679	0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs695997	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs698417	0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs698419	1.00[AMR][1000 genomes]
rs700580	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs700581	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7187176	0.83[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap]
rs7198683	1.00[AMR][1000 genomes]
rs7206393	1.00[AMR][1000 genomes]
rs794283	1.00[AMR][1000 genomes]
rs794557	1.00[AMR][1000 genomes]
rs794558	1.00[AMR][1000 genomes]
rs794559	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs797016	1.00[AMR][1000 genomes]
rs8044120	1.00[AMR][1000 genomes]
rs8046818	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs8047302	1.00[AMR][1000 genomes]
rs8048535	1.00[AMR][1000 genomes]
rs8049734	1.00[AMR][1000 genomes]
rs8059285	1.00[AMR][1000 genomes]
rs808078	0.87[YRI][hapmap]
rs808428	1.00[AMR][1000 genomes]
rs808436	1.00[AMR][1000 genomes]
rs811196	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs811267	1.00[AMR][1000 genomes]
rs811734	1.00[MKK][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs937659	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9922581	1.00[AMR][1000 genomes]
rs9924386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9925083	0.87[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9935045	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799780	chr16:46386457-46875496	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv1848852	chr16:46463746-46659554	Strong transcription Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv917899	chr16:46463769-46669332	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1056162	chr16:46463770-46655516	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1066221	chr16:46463770-46699143	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1060734	chr16:46463770-46768102	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv1064289	chr16:46463770-46801977	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
9	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	esv1806429	chr16:46468179-46659554	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	esv1847767	chr16:46474763-46659354	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	esv1815153	chr16:46474763-46672206	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
13	esv1797185	chr16:46489836-46731413	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	nsv917049	chr16:46500615-46653014	Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
15	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
16	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
17	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
18	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
19	nsv833216	chr16:46501297-46671860	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
20	nsv916976	chr16:46505597-46801868	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
21	nsv526656	chr16:46539392-46846663	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
22	nsv428327	chr16:46556968-46718490	Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
23	nsv974810	chr16:46642280-46653079	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46608000-46654200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr16:46614200-46650000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr16:46615200-46654400	Weak transcription	Fetal Kidney	kidney
4	chr16:46620000-46654600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:46620800-46649800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:46625200-46652400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:46625200-46653600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:46625400-46652200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr16:46625400-46652800	Strong transcription	Dnd41	blood
10	chr16:46625600-46654600	Weak transcription	Left Ventricle	heart
11	chr16:46626600-46652200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:46627200-46651800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr16:46627600-46654400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr16:46628200-46654600	Weak transcription	Esophagus	oesophagus
15	chr16:46628600-46654000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr16:46629000-46654600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr16:46629400-46654600	Weak transcription	Fetal Intestine Small	intestine
18	chr16:46630800-46653400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:46631200-46654200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr16:46632000-46654200	Weak transcription	Fetal Brain Female	brain
21	chr16:46632200-46654800	Weak transcription	Pancreas	Pancrea
22	chr16:46633000-46649800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr16:46633400-46654200	Weak transcription	Primary B cells from cord blood	blood
24	chr16:46633400-46654600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr16:46635600-46654200	Weak transcription	Placenta	Placenta
26	chr16:46638000-46649200	Weak transcription	Fetal Thymus	thymus
27	chr16:46638000-46649800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr16:46638000-46649800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr16:46638000-46654600	Weak transcription	Fetal Intestine Large	intestine
30	chr16:46638200-46648600	Weak transcription	Hela-S3	cervix
31	chr16:46638200-46649800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr16:46638600-46648600	Weak transcription	NH-A	brain
33	chr16:46640400-46651000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr16:46640600-46654400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr16:46643200-46648600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr16:46643600-46654600	Weak transcription	Gastric	stomach
37	chr16:46643800-46652400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr16:46643800-46653200	Strong transcription	K562	blood
39	chr16:46644000-46652800	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr16:46644200-46651800	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr16:46644200-46652200	Strong transcription	HepG2	liver
42	chr16:46644600-46651800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr16:46644600-46652000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr16:46644600-46652200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr16:46644800-46651800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr16:46644800-46651800	Strong transcription	HMEC	breast
47	chr16:46644800-46652200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr16:46644800-46652800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr16:46644800-46653400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr16:46645000-46651400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links