Variant report

Variant	rs12216212
Chromosome Location	chr6:144903831-144903832
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	EP300	chr6:144902391-144904894	SK-N-SH	brain:	n/a	chr6:144903652-144903660 chr6:144904875-144904889 chr6:144902630-144902640
2	MXI1	chr6:144902889-144905090	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
UTRN	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10457762	1.00[CEU][hapmap]
rs11155358	1.00[EUR][1000 genomes]
rs11155364	1.00[YRI][hapmap]
rs11155365	1.00[YRI][hapmap]
rs12192454	1.00[AMR][1000 genomes]
rs12194050	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12196635	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12200994	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12204715	1.00[CEU][hapmap]
rs12205085	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs12206968	1.00[AMR][1000 genomes]
rs12207034	1.00[AMR][1000 genomes]
rs12208806	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12209027	1.00[YRI][hapmap]
rs12210449	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12210566	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12211195	1.00[AMR][1000 genomes]
rs12212215	1.00[AMR][1000 genomes]
rs12212750	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12215350	1.00[CEU][hapmap]
rs17074004	1.00[YRI][hapmap]
rs28362044	1.00[AMR][1000 genomes]
rs28733692	1.00[AMR][1000 genomes]
rs6923012	1.00[CEU][hapmap]
rs7749416	1.00[CEU][hapmap]
rs9496992	1.00[CEU][hapmap]
rs9496993	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144807400-144904000	Weak transcription	Brain Substantia Nigra	brain
2	chr6:144850400-144904200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:144857200-144904000	Weak transcription	Psoas Muscle	Psoas
4	chr6:144874000-144904200	Weak transcription	Placenta	Placenta
5	chr6:144877000-144904200	Weak transcription	Fetal Stomach	stomach
6	chr6:144879200-144904000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:144881800-144937800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:144885800-144943400	Weak transcription	Ovary	ovary
9	chr6:144888800-144904000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:144895200-144904000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:144897400-144904000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:144898400-144904200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:144898600-144904000	Weak transcription	Right Ventricle	heart
14	chr6:144898600-144904400	Weak transcription	Fetal Intestine Large	intestine
15	chr6:144898600-144912800	Weak transcription	Gastric	stomach
16	chr6:144899600-144904000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr6:144899600-144904200	Weak transcription	Small Intestine	intestine
18	chr6:144899600-144904200	Weak transcription	Spleen	Spleen
19	chr6:144899600-144909000	Weak transcription	Aorta	Aorta
20	chr6:144899600-144913800	Weak transcription	Lung	lung
21	chr6:144899600-144931800	Weak transcription	Esophagus	oesophagus
22	chr6:144899800-144914400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:144899800-144914400	Weak transcription	Fetal Intestine Small	intestine
24	chr6:144899800-144917400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr6:144900000-144904000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr6:144900000-144904000	Weak transcription	Left Ventricle	heart
27	chr6:144900000-144904000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:144900000-144904200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:144900000-144915400	Weak transcription	Pancreas	Pancrea
30	chr6:144901800-144904200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:144902200-144904200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:144902400-144908400	Weak transcription	HUVEC	blood vessel
33	chr6:144902600-144904000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:144902800-144904000	Enhancers	Adipose Nuclei	Adipose
35	chr6:144902800-144904000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr6:144903000-144904000	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr6:144903000-144904000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr6:144903000-144904000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:144903000-144904000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:144903000-144904000	Enhancers	Colon Smooth Muscle	Colon
41	chr6:144903000-144904000	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr6:144903000-144904000	Enhancers	Fetal Thymus	thymus
43	chr6:144903000-144904000	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr6:144903000-144904200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:144903000-144904200	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr6:144903000-144904800	Enhancers	Liver	Liver
47	chr6:144903000-144905000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:144903200-144904000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr6:144903200-144904000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:144903200-144904000	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links