Variant report

Variant	rs41418
Chromosome Location	chr2:72402994-72402995
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DYSF-12	chr2:72402989-72405839	NONHSAT071575

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

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]
rs10181899	1.00[CHB][hapmap]
rs10190799	0.87[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];0.80[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	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];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	0.80[ASN][1000 genomes]
rs13395204	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs13416674	1.00[CHB][hapmap]
rs13417114	1.00[CHB][hapmap]
rs13418637	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs13423761	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs13430254	1.00[CHB][hapmap]
rs17673916	1.00[CHB][hapmap]
rs17724205	1.00[CHB][hapmap]
rs17724860	1.00[CHB][hapmap]
rs17725024	1.00[CHB][hapmap]
rs194235	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs194236	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs194237	0.86[ASN][1000 genomes]
rs194238	0.86[ASN][1000 genomes]
rs194240	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs194241	0.86[ASN][1000 genomes]
rs194242	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs194243	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2041563	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs2041564	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs2080044	1.00[CHB][hapmap]
rs2109963	0.80[ASN][1000 genomes]
rs2159823	1.00[CHB][hapmap]
rs28278	0.97[EUR][1000 genomes];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[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41391	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41392	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs41393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41395	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs41396	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs41397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41399	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs41400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41401	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs41402	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs41403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41406	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs41407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41408	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs41409	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41410	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs41411	0.94[ASN][1000 genomes]
rs41412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41413	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs41414	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41415	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41417	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41419	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41420	0.93[ASN][1000 genomes]
rs4852285	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs4852861	0.80[ASN][1000 genomes]
rs55877105	0.80[ASN][1000 genomes]
rs62147579	0.80[ASN][1000 genomes]
rs6546752	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6546753	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs6546755	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs6719255	1.00[CHB][hapmap]
rs6748607	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs6751276	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs6760895	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs7565922	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs768042	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs768043	0.80[ASN][1000 genomes]
rs9309463	1.00[CHB][hapmap];0.86[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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72393400-72407600	Weak transcription	HMEC	breast
2	chr2:72393600-72414800	Weak transcription	NHEK	skin
3	chr2:72394400-72403000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:72394400-72409800	Weak transcription	A549	lung
5	chr2:72397200-72403400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:72398400-72407400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:72399600-72403600	Weak transcription	Brain Germinal Matrix	brain
8	chr2:72399600-72405800	Weak transcription	Esophagus	oesophagus
9	chr2:72400000-72403000	Weak transcription	HSMMtube	muscle
10	chr2:72400000-72403400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:72400000-72404400	Weak transcription	Liver	Liver
12	chr2:72400600-72404600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:72400600-72405600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:72400600-72406400	Weak transcription	Fetal Brain Male	brain
15	chr2:72400800-72414000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:72401000-72404600	Weak transcription	Gastric	stomach
17	chr2:72401000-72404600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:72401000-72405600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:72401000-72407000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:72401000-72407800	Strong transcription	Fetal Stomach	stomach
21	chr2:72401200-72403000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:72401200-72403400	Weak transcription	Fetal Intestine Large	intestine
23	chr2:72401200-72403600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:72401200-72403800	Weak transcription	Brain Substantia Nigra	brain
25	chr2:72401200-72403800	Weak transcription	Right Ventricle	heart
26	chr2:72401200-72403800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:72401200-72404600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:72401200-72404600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:72401200-72404800	Weak transcription	Ovary	ovary
30	chr2:72401200-72405000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:72401200-72406000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:72401200-72406000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:72401200-72407600	Strong transcription	Fetal Brain Female	brain
34	chr2:72401200-72409600	Weak transcription	Spleen	Spleen
35	chr2:72401400-72404200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr2:72401400-72409000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:72401600-72404600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:72401600-72404800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:72401600-72405000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:72401600-72407200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:72401600-72409400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:72401600-72411600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:72401600-72414000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:72401600-72415200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr2:72401800-72403000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:72401800-72404600	Weak transcription	Fetal Intestine Small	intestine
47	chr2:72401800-72405200	Weak transcription	NH-A	brain
48	chr2:72401800-72407000	Strong transcription	Brain Hippocampus Middle	brain
49	chr2:72401800-72407600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:72401800-72407600	Strong transcription	Left Ventricle	heart

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