Variant report

Variant	rs6748868
Chromosome Location	chr2:11426089-11426090
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11425026..11427134-chr2:11483302..11485357,2	K562	blood:
2	chr2:11420942..11423564-chr2:11424238..11426360,2	K562	blood:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10183373	0.83[AFR][1000 genomes]
rs10201229	0.83[AFR][1000 genomes]
rs10205022	0.83[AFR][1000 genomes]
rs10495580	0.91[AFR][1000 genomes]
rs10495581	1.00[AFR][1000 genomes]
rs12329049	0.91[AFR][1000 genomes]
rs12329273	0.91[AFR][1000 genomes]
rs12329341	0.91[AFR][1000 genomes]
rs13388427	0.83[AFR][1000 genomes]
rs13416047	0.83[AFR][1000 genomes]
rs13420367	0.91[AFR][1000 genomes]
rs13431906	0.91[AFR][1000 genomes]
rs1375853	0.83[AFR][1000 genomes]
rs28441302	0.83[AFR][1000 genomes]
rs4267491	0.83[AFR][1000 genomes]
rs55931955	1.00[AFR][1000 genomes]
rs6705981	1.00[AFR][1000 genomes]
rs7583049	1.00[AFR][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	esv3395022	chr2:11316915-11426380	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv1827245	chr2:11385834-11442583	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
2	chr2:11378800-11428600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:11394800-11432800	Weak transcription	Right Ventricle	heart
4	chr2:11410400-11433000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:11410800-11432800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:11411200-11432800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:11411400-11426400	Weak transcription	Gastric	stomach
8	chr2:11413000-11427400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:11413000-11427800	Weak transcription	Aorta	Aorta
10	chr2:11413000-11431400	Weak transcription	Lung	lung
11	chr2:11415400-11428800	Strong transcription	HepG2	liver
12	chr2:11415600-11428600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:11416200-11426400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:11416200-11428000	Weak transcription	Stomach Mucosa	stomach
15	chr2:11418000-11431000	Weak transcription	Psoas Muscle	Psoas
16	chr2:11418800-11428400	Weak transcription	NHLF	lung
17	chr2:11420800-11430400	Weak transcription	Small Intestine	intestine
18	chr2:11420800-11433000	Weak transcription	Spleen	Spleen
19	chr2:11421000-11426600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:11422200-11427800	Weak transcription	HUVEC	blood vessel
21	chr2:11422800-11427200	Strong transcription	Fetal Intestine Large	intestine
22	chr2:11423600-11426600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:11423800-11426200	Strong transcription	Fetal Thymus	thymus
24	chr2:11423800-11426200	Strong transcription	HSMM	muscle
25	chr2:11423800-11426600	Strong transcription	Primary T cells from cord blood	blood
26	chr2:11423800-11426600	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:11423800-11426600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:11423800-11426600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:11423800-11426600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:11423800-11426600	Strong transcription	Placenta	Placenta
31	chr2:11423800-11426600	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr2:11423800-11426600	ZNF genes & repeats	GM12878-XiMat	blood
33	chr2:11423800-11426800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:11423800-11427200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:11423800-11427200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr2:11423800-11427200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr2:11424000-11426600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:11424000-11427200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:11424000-11428200	Weak transcription	Brain Angular Gyrus	brain
40	chr2:11424200-11426400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:11424200-11426600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:11424200-11426600	Strong transcription	Fetal Lung	lung
43	chr2:11424400-11426200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:11424400-11426400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:11424400-11426600	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:11424400-11427200	Weak transcription	Brain Substantia Nigra	brain
47	chr2:11424400-11428400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:11424400-11429600	Weak transcription	Fetal Brain Male	brain
49	chr2:11424400-11430200	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:11424600-11426200	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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