Variant report

Variant	rs4964778
Chromosome Location	chr12:104686064-104686065
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104606650..104616346-chr12:104679108..104687347,18	K562	blood:

Variant related genes	Relation type
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11111937	1.00[ASN][1000 genomes]
rs11111942	1.00[ASN][1000 genomes]
rs11111969	1.00[ASN][1000 genomes]
rs11112015	1.00[ASN][1000 genomes]
rs11612813	1.00[ASN][1000 genomes]
rs12809773	1.00[ASN][1000 genomes]
rs12812451	1.00[ASN][1000 genomes]
rs12826196	1.00[ASN][1000 genomes]
rs12828655	1.00[ASN][1000 genomes]
rs2706272	1.00[ASN][1000 genomes]
rs34811234	1.00[ASN][1000 genomes]
rs35453744	1.00[ASN][1000 genomes]
rs35473944	1.00[ASN][1000 genomes]
rs35653685	1.00[ASN][1000 genomes]
rs35822062	1.00[ASN][1000 genomes]
rs35945288	1.00[ASN][1000 genomes]
rs4964733	1.00[ASN][1000 genomes]
rs61937668	1.00[ASN][1000 genomes]
rs6539127	1.00[ASN][1000 genomes]
rs66554757	1.00[ASN][1000 genomes]
rs71466293	1.00[ASN][1000 genomes]
rs71466302	1.00[ASN][1000 genomes]
rs7294701	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7305137	1.00[ASN][1000 genomes]
rs7311508	1.00[ASN][1000 genomes]
rs7313536	1.00[ASN][1000 genomes]
rs7978310	1.00[ASN][1000 genomes]
rs7979945	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers 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 target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104682000-104687400	Transcr. at gene 5' and 3'	A549	lung
2	chr12:104683200-104687400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:104683400-104686600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:104683400-104687800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
5	chr12:104683400-104688600	Weak transcription	Brain Substantia Nigra	brain
6	chr12:104683400-104696800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:104683600-104689000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:104683600-104690200	Weak transcription	Fetal Kidney	kidney
9	chr12:104683800-104686400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:104683800-104686400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:104683800-104686600	Strong transcription	NHDF-Ad	bronchial
12	chr12:104683800-104686800	Strong transcription	Fetal Intestine Small	intestine
13	chr12:104683800-104686800	Weak transcription	Psoas Muscle	Psoas
14	chr12:104683800-104687000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:104683800-104688400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:104683800-104688600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:104683800-104688800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:104683800-104688800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:104683800-104689000	Weak transcription	Spleen	Spleen
20	chr12:104683800-104690400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr12:104683800-104693800	Weak transcription	Fetal Heart	heart
22	chr12:104683800-104696600	Weak transcription	Brain Anterior Caudate	brain
23	chr12:104683800-104696800	Weak transcription	Fetal Brain Male	brain
24	chr12:104683800-104697000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:104683800-104723800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:104684000-104689000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:104684200-104686600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:104684200-104687400	Genic enhancers	NHEK	skin
29	chr12:104684200-104689600	Strong transcription	Fetal Stomach	stomach
30	chr12:104684200-104693400	Strong transcription	Fetal Thymus	thymus
31	chr12:104684200-104696600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr12:104684400-104686200	Genic enhancers	Dnd41	blood
33	chr12:104684400-104686600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:104684400-104686600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:104684400-104686800	Strong transcription	HMEC	breast
36	chr12:104684400-104687400	Genic enhancers	Muscle Satellite Cultured Cells	--
37	chr12:104684400-104687400	Strong transcription	K562	blood
38	chr12:104684400-104687400	Genic enhancers	Osteobl	bone
39	chr12:104684400-104687800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:104684400-104688600	Weak transcription	Stomach Mucosa	stomach
41	chr12:104684400-104689200	Weak transcription	Esophagus	oesophagus
42	chr12:104684400-104689200	Weak transcription	Pancreas	Pancrea
43	chr12:104684400-104696600	Weak transcription	Right Atrium	heart
44	chr12:104684600-104687400	Transcr. at gene 5' and 3'	Hela-S3	cervix
45	chr12:104684600-104687800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr12:104684600-104688400	Strong transcription	Placenta	Placenta
47	chr12:104684600-104694400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:104684600-104694800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:104684800-104686400	Strong transcription	Gastric	stomach
50	chr12:104684800-104687000	Strong transcription	Colon Smooth Muscle	Colon

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