Variant report

Variant	rs7955370
Chromosome Location	chr12:4658562-4658563
allele	A/C
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	chr12:4658096-4659643	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4656468..4659385-chr12:4664305..4666078,2	K562	blood:
2	chr12:4651774..4653608-chr12:4656748..4658795,2	K562	blood:

Variant related genes	Relation type
RAD51AP1	TF binding region
ENSG00000111247	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10492053	0.92[AFR][1000 genomes]
rs12818485	1.00[ASN][1000 genomes]
rs12831479	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16931447	1.00[ASN][1000 genomes]
rs2909376	1.00[ASN][1000 genomes]
rs2970831	1.00[ASN][1000 genomes]
rs2970832	1.00[ASN][1000 genomes]
rs2970833	1.00[ASN][1000 genomes]
rs35467270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35711623	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35924298	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56857065	0.85[AFR][1000 genomes]
rs57308816	0.87[AFR][1000 genomes]
rs71459907	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71459908	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71459911	1.00[ASN][1000 genomes]
rs7296957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302664	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061919	0.85[AFR][1000 genomes]
rs74061923	0.85[AFR][1000 genomes]
rs7962626	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1038332	chr12:4627992-4689300	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv541362	chr12:4627992-4689300	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4648400-4670200	Weak transcription	Left Ventricle	heart
2	chr12:4648400-4671200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:4648400-4671400	Weak transcription	Esophagus	oesophagus
4	chr12:4648600-4671200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:4648800-4659600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:4648800-4664800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:4648800-4669600	Weak transcription	Fetal Brain Male	brain
8	chr12:4648800-4670800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:4648800-4671000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:4649000-4664600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:4649000-4666000	Weak transcription	Placenta	Placenta
12	chr12:4649000-4671000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:4649000-4671000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr12:4649000-4671000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:4649000-4671200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:4649200-4663200	Weak transcription	Fetal Brain Female	brain
17	chr12:4649200-4670800	Weak transcription	Fetal Intestine Small	intestine
18	chr12:4649400-4661600	Weak transcription	Fetal Lung	lung
19	chr12:4649400-4671000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:4649400-4671000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:4649400-4671000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:4649600-4659000	Weak transcription	Primary T cells from cord blood	blood
23	chr12:4649600-4666200	Weak transcription	NHLF	lung
24	chr12:4649600-4671000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:4649600-4671000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:4649600-4671000	Weak transcription	Fetal Kidney	kidney
27	chr12:4649600-4671200	Weak transcription	NHEK	skin
28	chr12:4649800-4659600	Weak transcription	Fetal Stomach	stomach
29	chr12:4650200-4668600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:4650200-4670600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:4650400-4670000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:4650400-4670200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:4651000-4660400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:4651000-4670400	Strong transcription	Fetal Thymus	thymus
35	chr12:4651200-4661000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr12:4651200-4668200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:4651400-4660200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:4651400-4660600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:4651400-4666600	Strong transcription	A549	lung
40	chr12:4651600-4668400	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr12:4651800-4662800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:4651800-4666200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:4652000-4671800	Strong transcription	Dnd41	blood
44	chr12:4653000-4660200	Strong transcription	Primary B cells from cord blood	blood
45	chr12:4653000-4660200	Strong transcription	HUVEC	blood vessel
46	chr12:4653000-4660400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr12:4653400-4660000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:4653800-4661600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:4654400-4666000	Weak transcription	HMEC	breast
50	chr12:4654400-4671000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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