Variant report

Variant	rs6748927
Chromosome Location	chr2:98391414-98391415
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98382337..98383997-chr2:98389933..98392351,2	K562	blood:
2	chr2:98381256..98384438-chr2:98386709..98392114,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075568	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10176201	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10182941	0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs10200949	0.91[ASN][1000 genomes]
rs10211231	0.91[ASN][1000 genomes]
rs1071885	0.91[ASN][1000 genomes]
rs10865055	0.83[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs11123924	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11123949	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11123966	0.85[ASN][1000 genomes]
rs11690482	0.85[ASN][1000 genomes]
rs11693874	0.81[ASN][1000 genomes]
rs11888323	0.85[ASN][1000 genomes]
rs11899171	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12712123	0.99[ASN][1000 genomes]
rs12712174	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs13003978	0.85[ASN][1000 genomes]
rs13006817	0.85[ASN][1000 genomes]
rs13008503	0.82[ASN][1000 genomes]
rs13010946	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs13022778	0.85[ASN][1000 genomes]
rs13034644	0.92[ASN][1000 genomes]
rs1317178	0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.91[ASN][1000 genomes]
rs13405546	0.94[ASN][1000 genomes]
rs1466020	0.83[CHB][hapmap]
rs1466924	0.91[ASN][1000 genomes]
rs1503200	0.85[ASN][1000 genomes]
rs1922280	0.91[ASN][1000 genomes]
rs1922282	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2017028	0.83[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.81[ASN][1000 genomes]
rs2091772	0.89[ASN][1000 genomes]
rs2100058	0.99[ASN][1000 genomes]
rs2141862	0.94[ASN][1000 genomes]
rs2279826	0.81[ASN][1000 genomes]
rs2305142	0.88[JPT][hapmap]
rs2309316	0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2309317	0.95[ASN][1000 genomes]
rs2309356	0.83[ASN][1000 genomes]
rs3762593	0.98[ASN][1000 genomes]
rs4274643	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4560167	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs5865	0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs6543108	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6543109	1.00[ASN][1000 genomes]
rs6543161	0.96[ASN][1000 genomes]
rs6543177	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6543202	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6543210	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs6707924	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6709571	0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs6710813	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6719556	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6723466	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6723653	0.93[ASN][1000 genomes]
rs6744331	0.96[ASN][1000 genomes]
rs6748809	0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7558931	0.83[CHB][hapmap]
rs7561104	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7562695	0.93[ASN][1000 genomes]
rs7567397	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7574437	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7577886	0.84[ASN][1000 genomes]
rs7582664	0.97[ASN][1000 genomes]
rs7586210	0.81[ASN][1000 genomes]
rs7598116	0.85[ASN][1000 genomes]
rs7602412	0.81[ASN][1000 genomes]
rs7605180	0.85[ASN][1000 genomes]
rs930607	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9308862	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs956696	0.91[ASN][1000 genomes]
rs9973416	0.98[ASN][1000 genomes]

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	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98352200-98398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:98366200-98400000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:98368000-98393800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr2:98368600-98413000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:98369600-98398800	Strong transcription	Fetal Muscle Leg	muscle
6	chr2:98370200-98392600	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:98370600-98392400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:98370600-98393800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:98370600-98407600	Weak transcription	HUVEC	blood vessel
10	chr2:98371200-98398600	Strong transcription	Primary B cells from cord blood	blood
11	chr2:98377200-98394400	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr2:98377400-98408000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:98377400-98410600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:98378600-98421400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:98380800-98393800	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:98381400-98397600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:98382600-98391600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:98382800-98398600	Weak transcription	Small Intestine	intestine
19	chr2:98382800-98419800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:98383000-98408600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:98383200-98408800	Weak transcription	Fetal Brain Male	brain
22	chr2:98383200-98420200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr2:98383400-98391600	Weak transcription	Fetal Kidney	kidney
24	chr2:98383400-98405600	Weak transcription	A549	lung
25	chr2:98383600-98391600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:98384000-98398800	Weak transcription	Stomach Mucosa	stomach
27	chr2:98385400-98392600	Strong transcription	Fetal Lung	lung
28	chr2:98385400-98399200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr2:98385800-98392400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:98385800-98398800	Strong transcription	Fetal Stomach	stomach
31	chr2:98386000-98392400	Strong transcription	Placenta	Placenta
32	chr2:98386000-98392400	Strong transcription	HMEC	breast
33	chr2:98386000-98392600	Strong transcription	Primary T cells from cord blood	blood
34	chr2:98386000-98398800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:98386200-98398000	Strong transcription	Fetal Intestine Large	intestine
36	chr2:98386200-98398800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr2:98386400-98391600	Weak transcription	HSMMtube	muscle
38	chr2:98386400-98395600	Weak transcription	Right Atrium	heart
39	chr2:98386600-98398200	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:98386800-98393800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr2:98386800-98395600	Weak transcription	Fetal Heart	heart
42	chr2:98387200-98392400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr2:98387200-98393600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:98387400-98391800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:98387400-98392400	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr2:98387400-98393800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr2:98387400-98394200	Strong transcription	Left Ventricle	heart
48	chr2:98387400-98394400	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:98387600-98392400	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:98387600-98392600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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