Variant report

Variant	rs2232815
Chromosome Location	chr1:171752798-171752799
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	MXI1	chr1:171749215-171752807	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:171749779..171754190-chr1:171762974..171767849,5	K562	blood:
2	chr1:171709343..171715185-chr1:171748592..171756289,15	K562	blood:
3	chr1:171752566..171754106-chr1:171760621..171762669,2	MCF-7	breast:

Variant related genes	Relation type
METTL13	TF binding region
ENSG00000010165	Chromatin interaction
ENSG00000117533	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10913650	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs10913759	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12062177	0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12087573	0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12087804	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12094855	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7535018	0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv872545	chr1:171735198-171805448	Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Weak 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	21 gene(s)	inside rSNPs	diseases
4	nsv522889	chr1:171749665-171755071	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171751400-171754400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr1:171751400-171755000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:171751600-171752800	Enhancers	Primary T cells fromperipheralblood	blood
4	chr1:171751600-171752800	Weak transcription	Left Ventricle	heart
5	chr1:171751600-171752800	Weak transcription	Lung	lung
6	chr1:171751600-171753000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:171751600-171753000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:171751600-171753000	Weak transcription	Esophagus	oesophagus
9	chr1:171751600-171753000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:171751600-171753000	Enhancers	Spleen	Spleen
11	chr1:171751600-171754800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:171751600-171770800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:171751800-171752800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:171751800-171753000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:171751800-171753200	Enhancers	Pancreas	Pancrea
16	chr1:171751800-171754200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:171752000-171752800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:171752000-171752800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:171752000-171752800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:171752000-171752800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:171752000-171752800	Weak transcription	Brain Germinal Matrix	brain
22	chr1:171752000-171752800	Enhancers	Fetal Intestine Large	intestine
23	chr1:171752000-171752800	Weak transcription	Placenta	Placenta
24	chr1:171752000-171752800	Weak transcription	Gastric	stomach
25	chr1:171752000-171752800	Weak transcription	Ovary	ovary
26	chr1:171752000-171752800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:171752000-171752800	Enhancers	Thymus	Thymus
28	chr1:171752000-171753000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:171752000-171753000	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr1:171752000-171753000	Weak transcription	Aorta	Aorta
31	chr1:171752000-171753000	Weak transcription	Colonic Mucosa	Colon
32	chr1:171752000-171753000	Weak transcription	Right Atrium	heart
33	chr1:171752000-171753000	Weak transcription	Right Ventricle	heart
34	chr1:171752000-171754600	Weak transcription	HSMMtube	muscle
35	chr1:171752000-171754800	Weak transcription	Small Intestine	intestine
36	chr1:171752000-171755000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr1:171752000-171773600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:171752200-171752800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:171752200-171752800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr1:171752200-171752800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:171752200-171752800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:171752200-171752800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:171752200-171752800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:171752200-171752800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:171752200-171752800	Enhancers	Colon Smooth Muscle	Colon
46	chr1:171752200-171752800	Enhancers	Fetal Brain Female	brain
47	chr1:171752200-171752800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:171752200-171752800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:171752200-171753000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:171752200-171753000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links