Variant report

Variant	rs12673205
Chromosome Location	chr7:5430388-5430389
allele	C/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	chr7:5430015-5430470	HL-60	blood:	n/a	n/a
2	POLR2A	chr7:5430024-5430904	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr7:5430057-5430938	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:5429619..5431536-chr7:5464762..5466326,2	K562	blood:
2	chr7:5427419..5438627-chr7:5461902..5471481,26	MCF-7	breast:
3	chr7:5406257..5408361-chr7:5427751..5430730,2	MCF-7	breast:
4	chr7:5426046..5429721-chr7:5429735..5433041,4	K562	blood:

Variant related genes	Relation type
TNRC18	TF binding region
ENSG00000234432	Chromatin interaction
ENSG00000182095	Chromatin interaction
ENSG00000273084	Chromatin interaction
ENSG00000272953	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10258331	0.85[EUR][1000 genomes]
rs4724667	0.95[EUR][1000 genomes]
rs56327832	0.81[EUR][1000 genomes]
rs56339818	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59848349	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73673126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796767	0.81[EUR][1000 genomes]
rs7810692	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv887391	chr7:5224407-5572132	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	292 gene(s)	inside rSNPs	diseases
5	nsv823996	chr7:5285503-5465988	Flanking Active TSS Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv887396	chr7:5305297-5475409	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
8	nsv887397	chr7:5315557-5450031	Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
9	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
10	nsv533965	chr7:5370746-5548397	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
11	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
12	nsv887400	chr7:5393243-5441337	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv887401	chr7:5393243-5539958	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
14	nsv887402	chr7:5394951-5494677	Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
15	nsv887403	chr7:5399044-5450031	Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
17	nsv887405	chr7:5409059-5552436	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
18	esv1849077	chr7:5409569-5434107	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv887406	chr7:5414602-5552436	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
20	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
21	esv3390705	chr7:5425826-5430724	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	esv1817740	chr7:5427128-5436368	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5413600-5435000	Weak transcription	HSMM	muscle
2	chr7:5416800-5430400	Weak transcription	GM12878-XiMat	blood
3	chr7:5422600-5431800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:5423000-5431600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:5423000-5434000	Strong transcription	Fetal Thymus	thymus
6	chr7:5423200-5435200	Strong transcription	Fetal Intestine Large	intestine
7	chr7:5423200-5436400	Weak transcription	Right Atrium	heart
8	chr7:5423400-5436400	Strong transcription	Fetal Intestine Small	intestine
9	chr7:5423400-5436400	Weak transcription	Psoas Muscle	Psoas
10	chr7:5423600-5434800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:5423600-5443600	Weak transcription	Fetal Brain Male	brain
12	chr7:5424000-5434200	Strong transcription	Thymus	Thymus
13	chr7:5424000-5437600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:5424400-5439200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:5424600-5434200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:5424800-5432600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr7:5424800-5432600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr7:5424800-5432800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:5424800-5432800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:5424800-5433000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:5424800-5433600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr7:5424800-5433800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:5424800-5433800	Strong transcription	Lung	lung
24	chr7:5424800-5434000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:5424800-5434200	Strong transcription	Gastric	stomach
26	chr7:5424800-5434600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:5424800-5434600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:5424800-5435400	Strong transcription	Fetal Muscle Leg	muscle
29	chr7:5424800-5436200	Strong transcription	Fetal Stomach	stomach
30	chr7:5424800-5447000	Weak transcription	Fetal Heart	heart
31	chr7:5425800-5434000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:5425800-5434200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:5425800-5434200	Strong transcription	Adipose Nuclei	Adipose
34	chr7:5425800-5434200	Strong transcription	Dnd41	blood
35	chr7:5425800-5434400	Strong transcription	Fetal Brain Female	brain
36	chr7:5425800-5435000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:5425800-5436200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:5425800-5447000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:5426000-5433800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr7:5426000-5435000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:5426000-5435000	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr7:5426000-5444200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:5426200-5434000	Strong transcription	Liver	Liver
44	chr7:5426200-5434200	Strong transcription	Ovary	ovary
45	chr7:5426200-5434600	Strong transcription	Brain Germinal Matrix	brain
46	chr7:5426400-5433400	Strong transcription	Brain Anterior Caudate	brain
47	chr7:5426400-5434200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr7:5426600-5431000	Strong transcription	Primary hematopoietic stem cells	blood
49	chr7:5426600-5434200	Strong transcription	Pancreas	Pancrea
50	chr7:5426800-5430400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links