Variant report

Variant	rs9933647
Chromosome Location	chr16:71518949-71518950
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:71517208-71519054	IMR90	lung:	n/a	n/a
2	GABPA	chr16:71517924-71519007	SK-N-SH	brain:	n/a	n/a
3	CREB1	chr16:71517772-71518971	HepG2	liver:	n/a	n/a
4	MTA3	chr16:71517732-71518985	GM12878	blood:	n/a	n/a
5	GATA3	chr16:71518258-71518975	MCF-7	breast:	n/a	n/a
6	BCLAF1	chr16:71518092-71518950	GM12878	blood:	n/a	chr16:71518519-71518528 chr16:71518357-71518366
7	GABPA	chr16:71517874-71519024	A549	lung:	n/a	n/a
8	POLR2A	chr16:71517737-71518956	H1-neurons	neurons:	n/a	n/a
9	GABPA	chr16:71517878-71518967	MCF-7	breast:	n/a	n/a
10	MXI1	chr16:71517308-71519058	SK-N-SH	brain:	n/a	chr16:71518046-71518055
11	POLR2A	chr16:71517160-71519168	U87	brain:	n/a	n/a
12	MYBL2	chr16:71517810-71519022	HepG2	liver:	n/a	n/a
13	RUNX3	chr16:71517856-71519051	GM12878	blood:	n/a	n/a
14	POLR2A	chr16:71517063-71518973	MCF10A-Er-Src	breast:	n/a	n/a
15	REST	chr16:71517613-71519211	H1-neurons	neurons:	n/a	chr16:71518360-71518370
16	SP2	chr16:71518106-71518951	HepG2	liver:	n/a	n/a
17	GABPA	chr16:71518057-71518959	HL-60	blood:	n/a	n/a
18	POLR2A	chr16:71517159-71519193	U87	brain:	n/a	n/a
19	POLR2A	chr16:71517675-71518987	U87	brain:	n/a	n/a
20	GABPA	chr16:71517942-71519059	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr16:71517547-71519009	PBDE	blood:	n/a	n/a
22	HCFC1	chr16:71518059-71518996	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr16:71517772-71518951	H1-neurons	neurons:	n/a	n/a
24	TBP	chr16:71517769-71518949	GM12878	blood:	n/a	n/a
25	CREB1	chr16:71517861-71518967	HepG2	liver:	n/a	n/a
26	GABPA	chr16:71517790-71519123	MCF-7	breast:	n/a	n/a
27	SP2	chr16:71517944-71519055	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71490751..71498047-chr16:71514421..71521729,20	MCF-7	breast:
2	chr16:71516946..71520167-chr16:71520825..71527785,6	MCF-7	breast:
3	chr16:71495690..71496577-chr16:71518159..71519385,6	MCF-7	breast:
4	chr16:71492243..71500079-chr16:71512817..71521299,31	MCF-7	breast:
5	chr16:71515385..71518984-chr16:71658944..71661712,3	MCF-7	breast:
6	chr16:71494034..71497645-chr16:71516569..71520102,12	K562	blood:
7	chr16:71321486..71324307-chr16:71517654..71519525,2	MCF-7	breast:
8	chr16:71492651..71498511-chr16:71515020..71523604,17	K562	blood:
9	chr16:71517404..71519756-chr16:71521184..71524689,3	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF19	TF binding region
ENSG00000260593	Chromatin interaction
ENSG00000180917	Chromatin interaction
ENSG00000247324	Chromatin interaction
ENSG00000140832	Chromatin interaction
ENSG00000157429	Chromatin interaction
ENSG00000261611	Chromatin interaction
ENSG00000167377	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10438561	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13330287	0.84[AFR][1000 genomes]
rs13333851	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13336790	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13339307	0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13339390	0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28620690	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28676959	0.87[AFR][1000 genomes]
rs28709366	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28754484	0.90[AFR][1000 genomes]
rs9923065	0.83[AMR][1000 genomes]
rs9930102	0.84[AFR][1000 genomes]
rs9930279	1.00[AMR][1000 genomes]
rs9930642	0.81[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71517400-71519200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:71517400-71519200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr16:71517600-71519000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:71517600-71519000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr16:71517600-71519000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:71517600-71519000	Active TSS	Brain Angular Gyrus	brain
7	chr16:71517600-71519000	Active TSS	Brain Germinal Matrix	brain
8	chr16:71517600-71519000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr16:71517600-71519000	Active TSS	Thymus	Thymus
10	chr16:71517600-71519000	Active TSS	HSMM	muscle
11	chr16:71517600-71519200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:71517600-71519200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:71517800-71519000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr16:71517800-71519000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr16:71517800-71519000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr16:71517800-71519000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr16:71517800-71519000	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr16:71517800-71519000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr16:71517800-71519000	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr16:71517800-71519000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr16:71517800-71519000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr16:71517800-71519000	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr16:71517800-71519000	Active TSS	Aorta	Aorta
24	chr16:71517800-71519000	Active TSS	Colonic Mucosa	Colon
25	chr16:71517800-71519000	Active TSS	Left Ventricle	heart
26	chr16:71517800-71519000	Active TSS	Ovary	ovary
27	chr16:71517800-71519000	Active TSS	Psoas Muscle	Psoas
28	chr16:71517800-71519000	Active TSS	Right Atrium	heart
29	chr16:71517800-71519000	Active TSS	Right Ventricle	heart
30	chr16:71517800-71519200	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr16:71517800-71519200	Active TSS	H9 Cell Line	embryonic stem cell
32	chr16:71517800-71519200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:71517800-71519200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:71517800-71519200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:71517800-71519200	Active TSS	Hela-S3	cervix
36	chr16:71518000-71519000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr16:71518000-71519000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr16:71518000-71519000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr16:71518000-71519000	Active TSS	Fetal Brain Female	brain
40	chr16:71518000-71519000	Active TSS	Fetal Intestine Large	intestine
41	chr16:71518000-71519000	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr16:71518000-71519000	Active TSS	Fetal Muscle Leg	muscle
43	chr16:71518000-71519000	Active TSS	Fetal Stomach	stomach
44	chr16:71518000-71519000	Active TSS	Stomach Mucosa	stomach
45	chr16:71518000-71519000	Active TSS	GM12878-XiMat	blood
46	chr16:71518000-71519000	Active TSS	K562	blood
47	chr16:71518000-71519000	Active TSS	NHDF-Ad	bronchial
48	chr16:71518000-71519200	Active TSS	H1 Cell Line	embryonic stem cell
49	chr16:71518000-71519200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr16:71518000-71519200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links