Variant report

Variant	rs2416944
Chromosome Location	chr12:12016045-12016046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:11990610..11993968-chr12:12013101..12016369,3	K562	blood:
2	chr12:11990610..11993601-chr12:12013404..12016369,2	K562	blood:
3	chr12:12003194..12007907-chr12:12014129..12016810,4	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10772510	0.85[CEU][hapmap]
rs17819115	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2238121	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs2238122	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs2238123	0.84[EUR][1000 genomes]
rs2238124	0.89[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs2238129	0.96[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2710266	0.96[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2710269	0.86[ASN][1000 genomes]
rs2723803	0.96[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2723804	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2855707	0.96[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2855709	0.89[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs6488463	0.96[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs928936	1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv516796	chr12:12013985-12027745	Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11980800-12022600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:11987600-12038000	Weak transcription	Hela-S3	cervix
3	chr12:11989400-12023000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:11993000-12019000	Weak transcription	A549	lung
5	chr12:11996400-12022600	Weak transcription	HSMM	muscle
6	chr12:12004600-12016600	Weak transcription	Ovary	ovary
7	chr12:12005000-12022400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:12008800-12018600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:12009000-12018800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:12009400-12017000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:12009400-12017800	Strong transcription	Primary B cells from peripheral blood	blood
12	chr12:12009400-12030800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:12009600-12016400	Weak transcription	Colonic Mucosa	Colon
14	chr12:12009600-12019400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:12010400-12016200	Weak transcription	Brain Angular Gyrus	brain
16	chr12:12010400-12019200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:12010600-12019000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:12011000-12018800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:12011400-12017000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:12012400-12017200	Enhancers	Left Ventricle	heart
21	chr12:12012400-12017400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:12012600-12016200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr12:12012600-12016600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:12012600-12017200	Enhancers	Fetal Heart	heart
25	chr12:12012600-12017800	Enhancers	Adipose Nuclei	Adipose
26	chr12:12013000-12016600	Enhancers	Liver	Liver
27	chr12:12013000-12017200	Enhancers	Right Atrium	heart
28	chr12:12013000-12017600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr12:12013200-12017200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:12013400-12016600	Weak transcription	Gastric	stomach
31	chr12:12013400-12019000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:12013800-12016400	Enhancers	HUVEC	blood vessel
33	chr12:12013800-12016600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr12:12013800-12017200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:12013800-12017200	Enhancers	Right Ventricle	heart
36	chr12:12013800-12017400	Genic enhancers	Primary hematopoietic stem cells	blood
37	chr12:12014000-12016600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:12014000-12017200	Enhancers	Psoas Muscle	Psoas
39	chr12:12014000-12017400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:12014000-12017400	Enhancers	Fetal Muscle Leg	muscle
41	chr12:12014000-12019400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:12014200-12017400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:12014200-12017400	Genic enhancers	Fetal Stomach	stomach
44	chr12:12014400-12017200	Enhancers	Pancreas	Pancrea
45	chr12:12014400-12017400	Strong transcription	Primary T cells from cord blood	blood
46	chr12:12014400-12017800	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr12:12014400-12020600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:12014600-12016400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr12:12014600-12016800	Strong transcription	Dnd41	blood
50	chr12:12014600-12017200	Strong transcription	Thymus	Thymus

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