Variant report

Variant	rs33634
Chromosome Location	chr16:11993717-11993718
allele	G/T
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	POLR2A	chr16:11993707-11993742	K562	blood:	n/a	n/a
2	POLR2A	chr16:11993605-11993896	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:11988100..11996073-chr16:12007143..12011577,10	MCF-7	breast:
2	chr16:11988764..11995180-chr16:12006980..12012068,9	MCF-7	breast:
3	chr16:11993027..11995387-chr16:11999081..12000852,2	MCF-7	breast:

Variant related genes	Relation type
GSPT1	TF binding region
ENSG00000103342	Chromatin interaction
ENSG00000266163	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs14817	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs153026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs153027	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1794329	1.00[AMR][1000 genomes]
rs251725	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs33628	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs33632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs33656	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs33658	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs370768	1.00[AMR][1000 genomes]
rs379936	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs386606	1.00[AMR][1000 genomes]
rs419029	1.00[AMR][1000 genomes]
rs419040	1.00[AMR][1000 genomes]
rs426424	1.00[AMR][1000 genomes]
rs432140	1.00[AMR][1000 genomes]
rs434806	1.00[AMR][1000 genomes]
rs469657	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs636664	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs677507	1.00[AMR][1000 genomes]
rs73513691	1.00[AMR][1000 genomes]
rs73515603	1.00[AMR][1000 genomes]
rs73515605	1.00[AMR][1000 genomes]
rs73515607	1.00[AMR][1000 genomes]
rs73515608	1.00[AMR][1000 genomes]
rs73515629	1.00[AMR][1000 genomes]
rs73515632	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043909	chr16:11839910-12007435	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS 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 miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv1735	chr16:11986963-12031597	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:11962000-11994600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr16:11962400-11995000	Strong transcription	Dnd41	blood
3	chr16:11962600-12004000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:11965800-11995000	Strong transcription	HepG2	liver
5	chr16:11966200-12006200	Weak transcription	Fetal Heart	heart
6	chr16:11971600-11995000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr16:11976600-12004800	Weak transcription	Esophagus	oesophagus
8	chr16:11977000-12007200	Weak transcription	Colonic Mucosa	Colon
9	chr16:11977200-12004600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr16:11979800-12003200	Weak transcription	Small Intestine	intestine
11	chr16:11981200-12004000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr16:11981600-11994400	Weak transcription	Psoas Muscle	Psoas
13	chr16:11981800-12001000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr16:11982000-12007400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr16:11984600-12006800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr16:11985000-12007000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr16:11986200-11996400	Weak transcription	Spleen	Spleen
18	chr16:11986200-11999600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr16:11986200-12003800	Weak transcription	Brain Substantia Nigra	brain
20	chr16:11986400-11995600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:11987400-11994000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr16:11987600-12004000	Weak transcription	Brain Angular Gyrus	brain
23	chr16:11987800-11994400	Weak transcription	Stomach Mucosa	stomach
24	chr16:11987800-11994800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr16:11987800-11996600	Weak transcription	Right Ventricle	heart
26	chr16:11987800-12004200	Weak transcription	Fetal Brain Female	brain
27	chr16:11987800-12007600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr16:11987800-12008400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:11988000-12004200	Weak transcription	Fetal Kidney	kidney
30	chr16:11988200-11994400	Weak transcription	Gastric	stomach
31	chr16:11988200-12000000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr16:11989000-11995000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr16:11989200-11994400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr16:11989200-11996800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr16:11989200-12004000	Weak transcription	Fetal Lung	lung
36	chr16:11989600-12000200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr16:11989800-11994800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:11989800-11997000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr16:11989800-11999200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:11989800-12000000	Weak transcription	Ovary	ovary
41	chr16:11989800-12007200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr16:11989800-12007400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr16:11990000-12001000	Weak transcription	Fetal Muscle Leg	muscle
44	chr16:11990000-12007400	Weak transcription	Lung	lung
45	chr16:11990200-11995200	Strong transcription	K562	blood
46	chr16:11990600-11995400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr16:11990600-11996800	Weak transcription	Fetal Intestine Small	intestine
48	chr16:11990600-12004200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr16:11990600-12006600	Weak transcription	Brain Germinal Matrix	brain
50	chr16:11990800-11994400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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