Variant report

Variant	rs4985416
Chromosome Location	chr16:70722940-70722941
allele	A/C
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	MAZ	chr16:70721844-70723080	IMR90	lung:	n/a	n/a
2	POLR2A	chr16:70722883-70723171	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70696022..70698192-chr16:70722301..70724411,2	K562	blood:
2	chr16:70555634..70562342-chr16:70718026..70723686,6	MCF-7	breast:

Variant related genes	Relation type
MTSS1L	TF binding region
ENSG00000103051	Chromatin interaction
ENSG00000189091	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11075777	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11075778	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11075779	0.93[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11075780	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11640399	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11643085	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11646834	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11647479	0.93[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11649476	0.88[GIH][hapmap]
rs11864186	0.95[YRI][hapmap]
rs12597717	0.87[EUR][1000 genomes]
rs12599324	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12920683	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12921898	0.88[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2864755	0.88[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];0.80[MEX][hapmap];0.82[EUR][1000 genomes]
rs35874206	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3826272	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4985557	0.92[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4985560	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56264804	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6499333	0.88[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906874	chr16:70677785-70740707	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv906875	chr16:70677785-70742536	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv906876	chr16:70677785-70757555	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS 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	18 gene(s)	inside rSNPs	diseases
8	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv906882	chr16:70690989-70725815	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer 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
12	nsv572946	chr16:70694000-70740707	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	nsv471094	chr16:70694000-70749970	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv906884	chr16:70696009-70725815	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv906885	chr16:70696367-70742536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
16	nsv1059226	chr16:70708698-70779144	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
17	nsv906886	chr16:70712549-70727324	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
18	nsv906887	chr16:70714434-70727324	Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
19	nsv572947	chr16:70714434-70731870	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
20	nsv906888	chr16:70716742-70742536	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4985416	DKKL1	trans	cerebellum	SCAN
rs4985416	RLTPR	cis	cerebellum	SCAN
rs4985416	TMED6	cis	cerebellum	SCAN
rs4985416	IL34	cis	parietal	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70719400-70727800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr16:70719400-70729200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:70719400-70729400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr16:70719800-70732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr16:70720000-70732200	Enhancers	Fetal Brain Male	brain
6	chr16:70720200-70728200	Enhancers	Fetal Heart	heart
7	chr16:70720400-70723000	Enhancers	Liver	Liver
8	chr16:70720400-70723200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr16:70720400-70725400	Enhancers	Esophagus	oesophagus
10	chr16:70720400-70725400	Enhancers	Lung	lung
11	chr16:70720400-70727000	Enhancers	Colonic Mucosa	Colon
12	chr16:70720400-70729200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr16:70720400-70729600	Enhancers	Right Atrium	heart
14	chr16:70720400-70732400	Enhancers	Right Ventricle	heart
15	chr16:70720400-70733400	Enhancers	Left Ventricle	heart
16	chr16:70720400-70753200	Weak transcription	Primary B cells from cord blood	blood
17	chr16:70720600-70723200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr16:70720600-70723200	Enhancers	HUVEC	blood vessel
19	chr16:70720600-70724400	Enhancers	Ovary	ovary
20	chr16:70720600-70726200	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr16:70720600-70726800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr16:70720600-70728200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr16:70720600-70728600	Enhancers	Placenta	Placenta
24	chr16:70720600-70728800	Weak transcription	Primary T cells from cord blood	blood
25	chr16:70720600-70729000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr16:70720600-70729200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr16:70720600-70729600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr16:70720600-70729600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr16:70720600-70729800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr16:70720600-70730000	Enhancers	Psoas Muscle	Psoas
31	chr16:70720600-70731800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr16:70720800-70723200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:70720800-70723800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr16:70720800-70724400	Enhancers	Thymus	Thymus
35	chr16:70720800-70726600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr16:70720800-70727600	Enhancers	Brain Substantia Nigra	brain
37	chr16:70720800-70727600	Weak transcription	Dnd41	blood
38	chr16:70720800-70729800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr16:70720800-70730200	Enhancers	Adipose Nuclei	Adipose
40	chr16:70720800-70731800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr16:70720800-70732400	Genic enhancers	Fetal Stomach	stomach
42	chr16:70721000-70723800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr16:70721000-70725400	Enhancers	NHLF	lung
44	chr16:70721000-70727200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr16:70721000-70728800	Enhancers	Fetal Muscle Trunk	muscle
46	chr16:70721000-70732400	Genic enhancers	Fetal Intestine Small	intestine
47	chr16:70721200-70723000	Enhancers	Fetal Brain Female	brain
48	chr16:70721200-70723000	Enhancers	HepG2	liver
49	chr16:70721200-70723200	Enhancers	A549	lung
50	chr16:70721200-70724000	Enhancers	Skeletal Muscle Female	skeletal muscle

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