Variant report

Variant	rs6595747
Chromosome Location	chr5:126382521-126382522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARCH3-3	chr5:126381051-126383607	NONHSAT103607

Extended variants
information (count: 164 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs10040840	1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap]
rs10075097	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10519920	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12652390	0.81[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap]
rs12652417	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12653000	0.85[JPT][hapmap]
rs12653444	0.89[ASN][1000 genomes]
rs12653823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12654717	1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs12654725	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12654808	0.81[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap]
rs12655006	1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12655223	0.82[GIH][hapmap]
rs12655258	1.00[CHB][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12655319	0.85[JPT][hapmap]
rs12655435	0.89[ASN][1000 genomes]
rs12655699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12655726	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12655928	0.82[JPT][hapmap]
rs12655991	0.80[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap]
rs12656223	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[LWK][hapmap];0.92[MKK][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12656537	0.82[JPT][hapmap]
rs12656837	1.00[CHB][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12658138	1.00[CHB][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12658174	0.81[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap]
rs12658599	0.85[JPT][hapmap]
rs12658822	0.81[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap]
rs12659476	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12659614	0.81[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap]
rs12659633	1.00[ASN][1000 genomes]
rs17165213	0.89[GIH][hapmap]
rs17165228	0.81[CHD][hapmap];0.85[JPT][hapmap]
rs17165234	1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17165236	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17165239	0.96[ASN][1000 genomes]
rs17165244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17165248	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17165249	0.81[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap]
rs17165251	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34416835	0.86[ASN][1000 genomes]
rs34738240	0.86[ASN][1000 genomes]
rs35566904	0.86[ASN][1000 genomes]
rs36091921	0.86[ASN][1000 genomes]
rs3812061	0.81[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap]
rs4141169	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4141170	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55792418	0.86[ASN][1000 genomes]
rs55802546	0.89[ASN][1000 genomes]
rs56073877	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56094173	0.86[ASN][1000 genomes]
rs56122855	0.83[ASN][1000 genomes]
rs56124224	1.00[ASN][1000 genomes]
rs56272610	0.89[ASN][1000 genomes]
rs56279346	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56688052	0.86[ASN][1000 genomes]
rs56786115	0.86[ASN][1000 genomes]
rs57032367	0.86[ASN][1000 genomes]
rs57285842	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57833976	0.86[ASN][1000 genomes]
rs57915728	0.89[ASN][1000 genomes]
rs58030771	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58164143	1.00[ASN][1000 genomes]
rs58249730	0.86[ASN][1000 genomes]
rs58262537	0.86[ASN][1000 genomes]
rs58527455	0.89[ASN][1000 genomes]
rs58646561	0.86[ASN][1000 genomes]
rs58754116	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59459356	0.86[ASN][1000 genomes]
rs59643871	0.86[ASN][1000 genomes]
rs59676931	0.86[ASN][1000 genomes]
rs59770843	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59814275	0.86[ASN][1000 genomes]
rs60138815	0.86[ASN][1000 genomes]
rs60615137	0.86[ASN][1000 genomes]
rs60781824	0.86[ASN][1000 genomes]
rs60889784	0.86[ASN][1000 genomes]
rs60892581	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61279308	0.89[ASN][1000 genomes]
rs61544197	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61679093	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61685918	0.86[ASN][1000 genomes]
rs61697996	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6860157	1.00[CEU][hapmap]
rs6860581	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862462	0.80[ASN][1000 genomes]
rs6864607	1.00[CHB][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap]
rs6870711	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6872893	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6877692	1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6882025	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6886131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6892168	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73335490	0.82[ASN][1000 genomes]
rs73335494	0.82[ASN][1000 genomes]
rs73335498	0.85[ASN][1000 genomes]
rs73335501	0.85[ASN][1000 genomes]
rs73337225	0.85[ASN][1000 genomes]
rs73337229	0.86[ASN][1000 genomes]
rs73337233	0.86[ASN][1000 genomes]
rs73337299	0.89[ASN][1000 genomes]
rs73339248	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73339251	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73339283	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73339293	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73783496	0.86[ASN][1000 genomes]
rs73783501	0.86[ASN][1000 genomes]
rs73783503	0.89[ASN][1000 genomes]
rs73783504	0.89[ASN][1000 genomes]
rs73783506	0.89[ASN][1000 genomes]
rs73783507	0.89[ASN][1000 genomes]
rs73783529	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73786207	0.86[ASN][1000 genomes]
rs73786209	0.86[ASN][1000 genomes]
rs73786212	0.86[ASN][1000 genomes]
rs73786239	0.86[ASN][1000 genomes]
rs73786240	0.86[ASN][1000 genomes]
rs73786241	0.86[ASN][1000 genomes]
rs73786242	0.86[ASN][1000 genomes]
rs73786244	0.86[ASN][1000 genomes]
rs73786246	0.86[ASN][1000 genomes]
rs73786247	0.86[ASN][1000 genomes]
rs73786249	0.86[ASN][1000 genomes]
rs73786250	0.86[ASN][1000 genomes]
rs73786251	0.86[ASN][1000 genomes]
rs73786252	0.86[ASN][1000 genomes]
rs73786253	0.86[ASN][1000 genomes]
rs73786255	0.86[ASN][1000 genomes]
rs73786259	0.86[ASN][1000 genomes]
rs73786260	0.86[ASN][1000 genomes]
rs73786261	0.86[ASN][1000 genomes]
rs73786262	0.86[ASN][1000 genomes]
rs73786264	0.86[ASN][1000 genomes]
rs73786265	0.86[ASN][1000 genomes]
rs73786266	0.86[ASN][1000 genomes]
rs73786267	0.86[ASN][1000 genomes]
rs73786268	0.86[ASN][1000 genomes]
rs73786269	0.86[ASN][1000 genomes]
rs73786270	0.86[ASN][1000 genomes]
rs73786271	0.86[ASN][1000 genomes]
rs73786272	0.84[ASN][1000 genomes]
rs73786276	0.89[ASN][1000 genomes]
rs73786277	0.89[ASN][1000 genomes]
rs73786278	0.89[ASN][1000 genomes]
rs73786280	0.89[ASN][1000 genomes]
rs73786281	0.89[ASN][1000 genomes]
rs73786282	0.89[ASN][1000 genomes]
rs73786283	0.89[ASN][1000 genomes]
rs73786284	0.89[ASN][1000 genomes]
rs73786285	0.89[ASN][1000 genomes]
rs73786287	0.89[ASN][1000 genomes]
rs73786288	0.89[ASN][1000 genomes]
rs73786290	0.89[ASN][1000 genomes]
rs73786294	0.89[ASN][1000 genomes]
rs73786295	0.89[ASN][1000 genomes]
rs73786298	0.89[ASN][1000 genomes]
rs73787403	0.89[ASN][1000 genomes]
rs73787404	0.89[ASN][1000 genomes]
rs73787406	0.89[ASN][1000 genomes]
rs7701976	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap]
rs7709865	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7715377	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9918233	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126367600-126391800	Weak transcription	GM12878-XiMat	blood
2	chr5:126368000-126387200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr5:126372200-126391600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:126374400-126385000	Weak transcription	Small Intestine	intestine
5	chr5:126374600-126408400	Weak transcription	Psoas Muscle	Psoas
6	chr5:126376000-126391800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:126377200-126387200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr5:126377200-126391600	Weak transcription	Fetal Stomach	stomach
9	chr5:126377200-126391800	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:126377200-126395200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:126377200-126400000	Weak transcription	Gastric	stomach
12	chr5:126377200-126401400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:126377200-126409000	Weak transcription	Spleen	Spleen
14	chr5:126377400-126391600	Weak transcription	Pancreas	Pancrea
15	chr5:126377400-126395800	Weak transcription	Colonic Mucosa	Colon
16	chr5:126377400-126403800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:126377400-126404600	Weak transcription	Left Ventricle	heart
18	chr5:126377400-126408400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr5:126377600-126391600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:126378000-126391800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:126378000-126408000	Weak transcription	Fetal Intestine Small	intestine
22	chr5:126378000-126408400	Weak transcription	Right Ventricle	heart
23	chr5:126378200-126383000	Weak transcription	Stomach Mucosa	stomach
24	chr5:126378200-126384000	Weak transcription	K562	blood
25	chr5:126378200-126387600	Weak transcription	HSMM	muscle
26	chr5:126378200-126391200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:126378200-126408200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:126378400-126386200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:126378400-126408000	Weak transcription	HMEC	breast
30	chr5:126378800-126392600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:126379000-126382800	Strong transcription	Primary T cells from cord blood	blood
32	chr5:126379200-126404800	Weak transcription	Brain Germinal Matrix	brain
33	chr5:126379400-126388400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr5:126379400-126391000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:126379400-126404600	Weak transcription	Fetal Heart	heart
36	chr5:126380200-126391600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr5:126380200-126391800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:126380200-126391800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:126380400-126382600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:126380400-126408000	Weak transcription	HepG2	liver
41	chr5:126380600-126387800	Weak transcription	Thymus	Thymus
42	chr5:126380600-126391600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr5:126380800-126391800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:126381000-126397800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr5:126381400-126387600	Weak transcription	Liver	Liver
46	chr5:126381400-126391800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:126381400-126408400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr5:126381600-126396600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr5:126382000-126382800	Strong transcription	Fetal Intestine Large	intestine
50	chr5:126382000-126383000	Strong transcription	Duodenum Mucosa	Duodenum

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