Variant report

Variant	rs41392
Chromosome Location	chr2:72426686-72426687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs1000523	1.00[CHB][hapmap]
rs1003672	0.86[ASN][1000 genomes]
rs10175915	1.00[CHB][hapmap]
rs10178138	1.00[CHB][hapmap]
rs10190799	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196589	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs10205108	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs10209861	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs10221767	1.00[CHB][hapmap]
rs10221769	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs10865390	0.86[ASN][1000 genomes]
rs11126362	0.93[ASN][1000 genomes]
rs11126363	0.86[ASN][1000 genomes]
rs1123199	1.00[CHB][hapmap]
rs1159763	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1159764	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1159765	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1159766	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs11681809	0.86[ASN][1000 genomes]
rs12466026	1.00[CHB][hapmap]
rs12466112	1.00[CHB][hapmap]
rs13389524	1.00[CHB][hapmap]
rs13391463	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13395204	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs13404369	0.86[ASN][1000 genomes]
rs13416674	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs13417114	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs13418637	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs13423761	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13430254	1.00[CHB][hapmap]
rs13432350	0.81[AFR][1000 genomes]
rs17673916	1.00[CHB][hapmap]
rs17724205	1.00[CHB][hapmap]
rs17724860	1.00[CHB][hapmap]
rs17725024	1.00[CHB][hapmap]
rs194235	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs194236	0.81[ASN][1000 genomes]
rs194237	0.86[ASN][1000 genomes]
rs194238	0.86[ASN][1000 genomes]
rs194239	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs194240	0.81[ASN][1000 genomes]
rs194241	0.86[ASN][1000 genomes]
rs194242	0.93[ASN][1000 genomes]
rs194243	0.93[ASN][1000 genomes]
rs2041563	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs2041564	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs2080044	1.00[CHB][hapmap]
rs2109963	0.93[ASN][1000 genomes]
rs2159823	1.00[CHB][hapmap]
rs28278	0.93[ASN][1000 genomes]
rs41386	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs41387	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs41388	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41389	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41390	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41391	0.93[ASN][1000 genomes]
rs41393	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41394	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41395	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41396	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41397	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs41398	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41399	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs41400	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41403	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41405	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs41409	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs41410	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41411	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41412	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs41413	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41414	0.87[ASN][1000 genomes]
rs41415	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs41416	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs41417	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs41418	0.87[ASN][1000 genomes]
rs41419	0.87[ASN][1000 genomes]
rs41420	0.80[ASN][1000 genomes]
rs4852285	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4852860	0.86[ASN][1000 genomes]
rs4852861	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4852862	0.86[ASN][1000 genomes]
rs55877105	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62147579	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6546750	0.81[ASN][1000 genomes]
rs6546752	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6546753	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs6546755	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs6719255	1.00[CHB][hapmap]
rs6748607	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs6751276	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs6760895	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs7565922	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs768042	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs768043	0.93[ASN][1000 genomes]
rs9309463	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs9679148	0.81[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	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72412800-72429800	Weak transcription	Right Ventricle	heart
2	chr2:72412800-72431000	Weak transcription	Left Ventricle	heart
3	chr2:72415400-72430800	Weak transcription	Placenta	Placenta
4	chr2:72419000-72430800	Weak transcription	Small Intestine	intestine
5	chr2:72419600-72429200	Weak transcription	Brain Substantia Nigra	brain
6	chr2:72422200-72430400	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:72424400-72427000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:72424600-72429600	Weak transcription	Right Atrium	heart
9	chr2:72425200-72426800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:72425200-72427000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:72425400-72426800	Enhancers	Stomach Mucosa	stomach
12	chr2:72425400-72427000	Enhancers	Osteobl	bone
13	chr2:72425800-72427000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:72425800-72427000	Enhancers	A549	lung
15	chr2:72426000-72426800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:72426000-72426800	Enhancers	HMEC	breast
17	chr2:72426000-72426800	Enhancers	NH-A	brain
18	chr2:72426000-72427000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:72426000-72427000	Enhancers	NHDF-Ad	bronchial
20	chr2:72426200-72430800	Weak transcription	HepG2	liver
21	chr2:72426200-72431000	Weak transcription	Gastric	stomach
22	chr2:72426200-72431400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:72426200-72431400	Weak transcription	NHLF	lung
24	chr2:72426400-72426800	Enhancers	Fetal Intestine Small	intestine
25	chr2:72426400-72427200	Enhancers	Esophagus	oesophagus
26	chr2:72426600-72430600	Weak transcription	Brain Anterior Caudate	brain
27	chr2:72426600-72430800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:72426600-72430800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:72426600-72430800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:72426600-72430800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:72426600-72430800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:72426600-72430800	Weak transcription	NHEK	skin
33	chr2:72426600-72432000	Weak transcription	HSMM	muscle

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