Variant report

Variant	rs16940961
Chromosome Location	chr16:75654926-75654927
allele	C/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75496396..75498894-chr16:75652662..75656672,3	MCF-7	breast:
2	chr16:75653410..75664044-chr16:75674901..75683254,27	MCF-7	breast:
3	chr16:75635717..75638506-chr16:75654475..75657293,3	MCF-7	breast:
4	chr16:75575437..75578213-chr16:75652785..75655591,2	K562	blood:
5	chr16:75505427..75506354-chr16:75654710..75655557,4	MCF-7	breast:
6	chr16:75618900..75620910-chr16:75653881..75655616,2	K562	blood:
7	chr16:75647375..75649764-chr16:75653227..75655141,2	K562	blood:
8	chr16:75649115..75650926-chr16:75653662..75655747,3	MCF-7	breast:
9	chr16:75638796..75640828-chr16:75652296..75655145,2	MCF-7	breast:
10	chr16:75465910..75469192-chr16:75654368..75658890,6	K562	blood:
11	chr16:75654016..75659144-chr16:75660095..75666421,8	K562	blood:
12	chr16:75551190..75551731-chr16:75654745..75655449,2	K562	blood:
13	chr16:75601864..75604416-chr16:75653579..75655170,2	MCF-7	breast:
14	chr16:75587027..75591762-chr16:75651045..75658145,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000205084	Chromatin interaction
ENSG00000065427	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000166822	Chromatin interaction
ENSG00000261717	Chromatin interaction
ENSG00000065457	Chromatin interaction
ENSG00000166848	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11556641	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12922861	1.00[CEU][hapmap]
rs16940260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16940348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16940362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16940444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16941287	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16941301	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16941409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16941516	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16942032	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16975847	1.00[CHB][hapmap]
rs2164246	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550320	1.00[AMR][1000 genomes]
rs2550889	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550892	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs2550893	1.00[CEU][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs2550897	1.00[AMR][1000 genomes]
rs2550900	1.00[AMR][1000 genomes]
rs2550902	1.00[CEU][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs2550903	1.00[AMR][1000 genomes]
rs2550906	1.00[AMR][1000 genomes]
rs2550914	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550915	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2641803	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2641807	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2650410	1.00[AMR][1000 genomes]
rs2650411	1.00[CEU][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs2650413	0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs2738800	1.00[AMR][1000 genomes]
rs55714466	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55862257	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56030666	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56321575	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60919196	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7194333	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72563121	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024796	1.00[AMR][1000 genomes]
rs74027409	1.00[AMR][1000 genomes]
rs74027420	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027421	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027424	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027425	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027427	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027428	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027431	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027432	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027433	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027436	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027439	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027441	0.86[EUR][1000 genomes]
rs74027443	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8053257	1.00[CHD][hapmap]
rs8192515	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs920037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer 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	43 gene(s)	inside rSNPs	diseases
7	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75631400-75655200	Strong transcription	Fetal Muscle Trunk	muscle
2	chr16:75637400-75655200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:75637800-75655200	Weak transcription	Stomach Mucosa	stomach
4	chr16:75638000-75655000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:75640200-75655200	Strong transcription	Stomach Smooth Muscle	stomach
6	chr16:75646600-75655800	Weak transcription	Esophagus	oesophagus
7	chr16:75647000-75656200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr16:75647800-75655800	Weak transcription	Right Ventricle	heart
9	chr16:75648400-75656000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr16:75649800-75655800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:75651200-75656000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr16:75651400-75655600	Weak transcription	Brain Angular Gyrus	brain
13	chr16:75651400-75656000	Weak transcription	Fetal Kidney	kidney
14	chr16:75651400-75656200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr16:75651600-75655400	Weak transcription	Fetal Brain Male	brain
16	chr16:75651600-75656200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:75651800-75655600	Weak transcription	Psoas Muscle	Psoas
18	chr16:75652000-75656000	Weak transcription	Colonic Mucosa	Colon
19	chr16:75653000-75656000	Weak transcription	NHDF-Ad	bronchial
20	chr16:75653200-75655800	Weak transcription	Small Intestine	intestine
21	chr16:75653200-75656200	Weak transcription	Aorta	Aorta
22	chr16:75653600-75655200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr16:75654000-75656000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr16:75654000-75656200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr16:75654200-75655000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr16:75654200-75656200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr16:75654200-75656200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr16:75654400-75655000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr16:75654400-75655000	Weak transcription	Fetal Thymus	thymus
30	chr16:75654400-75655000	Weak transcription	Hela-S3	cervix
31	chr16:75654400-75655200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr16:75654400-75655200	Enhancers	HUVEC	blood vessel
33	chr16:75654400-75655600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr16:75654400-75655600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr16:75654400-75655600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr16:75654400-75655600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr16:75654400-75655800	Flanking Active TSS	K562	blood
38	chr16:75654400-75656000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr16:75654400-75656000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr16:75654400-75656000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr16:75654400-75656000	Enhancers	Fetal Heart	heart
42	chr16:75654400-75656000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr16:75654400-75656200	Weak transcription	Fetal Lung	lung
44	chr16:75654400-75656400	Weak transcription	Ovary	ovary
45	chr16:75654600-75655000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr16:75654600-75655000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr16:75654600-75655000	Weak transcription	Adipose Nuclei	Adipose
48	chr16:75654600-75655000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr16:75654600-75655000	Weak transcription	Brain Substantia Nigra	brain
50	chr16:75654600-75655000	Weak transcription	Fetal Intestine Small	intestine

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