Variant report

Variant	rs34785684
Chromosome Location	chr12:48193306-48193307
allele	A/G
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	chr12:48193017-48194842	K562	blood:	n/a	n/a
2	POLR2A	chr12:48192878-48194202	ECC-1	luminal epithelium:	n/a	n/a
3	ZNF263	chr12:48192781-48193418	HEK293-T-REx	kidney:	n/a	chr12:48193010-48193031
4	POLR2A	chr12:48192912-48193642	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:48193054-48193407	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48177447..48181370-chr12:48191436..48194487,4	K562	blood:

Variant related genes	Relation type
HDAC7	TF binding region
ENSG00000061273	Chromatin interaction
ENSG00000268069	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11837686	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12814620	1.00[ASN][1000 genomes]
rs12820931	1.00[ASN][1000 genomes]
rs12828203	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828577	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122326	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34248545	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34379708	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35392237	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580638	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71462981	1.00[ASN][1000 genomes]
rs7299689	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303453	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971594	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980930	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
2	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
3	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
4	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
5	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
7	nsv899060	chr12:48180508-48231430	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	esv3693398	chr12:48186738-48215749	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48168200-48195200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:48173800-48193800	Strong transcription	Gastric	stomach
3	chr12:48173800-48195400	Strong transcription	Fetal Stomach	stomach
4	chr12:48174600-48193400	Strong transcription	Brain Germinal Matrix	brain
5	chr12:48174600-48195600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:48174800-48194600	Strong transcription	Fetal Intestine Large	intestine
7	chr12:48175000-48193400	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:48175200-48193600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:48175600-48195000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:48175600-48195800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:48176400-48193400	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr12:48177400-48193400	Strong transcription	HUVEC	blood vessel
13	chr12:48177800-48196000	Strong transcription	NHEK	skin
14	chr12:48178600-48199200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:48179600-48194800	Weak transcription	Small Intestine	intestine
16	chr12:48179600-48195400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:48179800-48201000	Weak transcription	Dnd41	blood
18	chr12:48181200-48199800	Strong transcription	Fetal Intestine Small	intestine
19	chr12:48182000-48195800	Weak transcription	GM12878-XiMat	blood
20	chr12:48182000-48206400	Weak transcription	HepG2	liver
21	chr12:48182400-48193600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:48182400-48202000	Weak transcription	Fetal Brain Male	brain
23	chr12:48183000-48204000	Weak transcription	Fetal Kidney	kidney
24	chr12:48186000-48195600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:48186400-48194800	Weak transcription	HMEC	breast
26	chr12:48186400-48195400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:48188400-48193400	Weak transcription	Fetal Heart	heart
28	chr12:48188400-48193400	Weak transcription	HSMM	muscle
29	chr12:48188400-48193400	Weak transcription	HSMMtube	muscle
30	chr12:48188400-48194200	Weak transcription	Stomach Mucosa	stomach
31	chr12:48188400-48195400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:48188600-48196600	Weak transcription	K562	blood
33	chr12:48188800-48195200	Weak transcription	Fetal Lung	lung
34	chr12:48189000-48195200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:48189000-48201000	Weak transcription	NH-A	brain
36	chr12:48189600-48193400	Weak transcription	NHDF-Ad	bronchial
37	chr12:48189800-48193600	Genic enhancers	Right Ventricle	heart
38	chr12:48189800-48194800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:48190800-48193600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:48190800-48201400	Genic enhancers	Fetal Thymus	thymus
41	chr12:48191000-48194200	Weak transcription	Hela-S3	cervix
42	chr12:48191000-48197200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:48191000-48201200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:48191200-48195200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:48191200-48195400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr12:48191400-48193400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:48191400-48193600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr12:48191400-48193600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:48191400-48194000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:48191400-48197200	Enhancers	Brain Angular Gyrus	brain

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