Variant report

Variant	rs12199670
Chromosome Location	chr6:33874000-33874001
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr6:33873884-33874119	SH-SY5Y	brain:	n/a	n/a
2	GATA2	chr6:33873849-33874171	SH-SY5Y	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33871240..33875960-chr6:33876004..33878253,4	K562	blood:
2	chr6:33867717..33870484-chr6:33872080..33874838,5	MCF-7	breast:
3	chr6:33871826..33874776-chr6:33875956..33877869,2	MCF-7	breast:
4	chr6:33854576..33856833-chr6:33873252..33875998,2	K562	blood:
5	chr6:33872397..33874588-chr6:33952350..33955132,2	MCF-7	breast:
6	chr6:33678377..33680727-chr6:33873373..33875041,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233183	TF binding region
ENSG00000233183	Chromatin interaction
ENSG00000137288	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12216193	0.91[YRI][hapmap]
rs16869677	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56334904	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73744913	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9469624	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9469625	0.83[YRI][hapmap]
rs9469627	0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs9469631	0.82[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	nsv916210	chr6:33804111-34144062	Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33865600-33883000	Weak transcription	Esophagus	oesophagus
2	chr6:33868200-33877800	Enhancers	Primary hematopoietic stem cells	blood
3	chr6:33870800-33875200	Enhancers	Primary B cells from peripheral blood	blood
4	chr6:33870800-33876600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:33871400-33875400	Enhancers	Thymus	Thymus
6	chr6:33871600-33874000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:33871600-33874000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:33871600-33874600	Enhancers	GM12878-XiMat	blood
9	chr6:33871600-33876400	Enhancers	Fetal Intestine Small	intestine
10	chr6:33871800-33875600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr6:33872200-33874400	Flanking Active TSS	Liver	Liver
12	chr6:33872400-33874200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:33872400-33874800	Weak transcription	Pancreas	Pancrea
14	chr6:33872800-33874800	Weak transcription	Fetal Kidney	kidney
15	chr6:33872800-33878000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr6:33872800-33878800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:33873000-33876400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:33873000-33876400	Enhancers	Duodenum Mucosa	Duodenum
19	chr6:33873000-33884000	Enhancers	Fetal Thymus	thymus
20	chr6:33873200-33874600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr6:33873200-33875200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr6:33873200-33876000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:33873200-33876600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr6:33873200-33877400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:33873200-33878200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:33873400-33874400	Enhancers	K562	blood
27	chr6:33873400-33875400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:33873400-33875600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr6:33873400-33876800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr6:33873400-33878000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr6:33873400-33878000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:33873400-33878400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr6:33873400-33883800	Enhancers	Primary T cells fromperipheralblood	blood
34	chr6:33873600-33874200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:33873600-33874600	Weak transcription	Fetal Intestine Large	intestine
36	chr6:33873600-33876400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr6:33873800-33874000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:33873800-33874200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr6:33873800-33874600	Enhancers	Primary B cells from cord blood	blood
40	chr6:33873800-33877000	Enhancers	Primary T cells from cord blood	blood
41	chr6:33873800-33879000	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr6:33873800-33882000	Weak transcription	Spleen	Spleen
43	chr6:33874000-33881800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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