Variant report

Variant	rs56124224
Chromosome Location	chr5:126376016-126376017
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	chr5:126367428..126369102-chr5:126374872..126376584,2	K562	blood:
2	chr5:126373053..126375255-chr5:126375735..126378534,4	MCF-7	breast:

Extended variants
information (count: 219 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:217)

rs_ID	r²[population]
rs10040840	0.82[EUR][1000 genomes]
rs10075097	0.96[ASN][1000 genomes]
rs10519919	1.00[EUR][1000 genomes]
rs10519920	0.96[ASN][1000 genomes]
rs10519922	1.00[EUR][1000 genomes]
rs10519923	1.00[EUR][1000 genomes]
rs11241915	0.86[AFR][1000 genomes]
rs12518420	1.00[EUR][1000 genomes]
rs12651864	1.00[EUR][1000 genomes]
rs12652019	0.91[EUR][1000 genomes]
rs12652390	1.00[EUR][1000 genomes]
rs12652417	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12653000	1.00[EUR][1000 genomes]
rs12653290	1.00[EUR][1000 genomes]
rs12653444	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12653823	0.96[ASN][1000 genomes]
rs12654313	0.91[EUR][1000 genomes]
rs12654717	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12654725	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12654808	0.82[EUR][1000 genomes]
rs12655006	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12655199	1.00[EUR][1000 genomes]
rs12655223	0.82[EUR][1000 genomes]
rs12655258	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12655319	1.00[EUR][1000 genomes]
rs12655435	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12655605	1.00[EUR][1000 genomes]
rs12655699	0.96[ASN][1000 genomes]
rs12655726	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12655928	1.00[EUR][1000 genomes]
rs12655991	0.82[EUR][1000 genomes]
rs12656223	1.00[ASN][1000 genomes]
rs12656236	1.00[EUR][1000 genomes]
rs12656537	1.00[EUR][1000 genomes]
rs12656837	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12658138	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12658174	0.82[EUR][1000 genomes]
rs12658599	1.00[EUR][1000 genomes]
rs12658608	0.84[EUR][1000 genomes]
rs12658816	1.00[EUR][1000 genomes]
rs12658821	1.00[EUR][1000 genomes]
rs12658822	0.82[EUR][1000 genomes]
rs12659476	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12659607	1.00[EUR][1000 genomes]
rs12659614	1.00[EUR][1000 genomes]
rs12659633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165192	1.00[EUR][1000 genomes]
rs17165194	1.00[EUR][1000 genomes]
rs17165211	1.00[EUR][1000 genomes]
rs17165228	1.00[EUR][1000 genomes]
rs17165234	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17165236	0.96[ASN][1000 genomes]
rs17165239	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17165244	0.96[ASN][1000 genomes]
rs17165248	0.96[ASN][1000 genomes]
rs17165249	1.00[EUR][1000 genomes]
rs17165251	0.96[ASN][1000 genomes]
rs17762544	0.91[EUR][1000 genomes]
rs17839703	0.92[EUR][1000 genomes]
rs34416835	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34738240	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35566904	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35627668	1.00[EUR][1000 genomes]
rs36091921	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3812061	0.82[EUR][1000 genomes]
rs4141169	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4141170	0.96[ASN][1000 genomes]
rs55792418	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55802546	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56073877	0.96[ASN][1000 genomes]
rs56094173	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56122855	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56171951	0.92[EUR][1000 genomes]
rs56272610	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56279346	0.94[ASN][1000 genomes]
rs56688052	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56689722	1.00[EUR][1000 genomes]
rs56786115	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57031083	0.82[EUR][1000 genomes]
rs57032367	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57052202	1.00[EUR][1000 genomes]
rs57081850	1.00[EUR][1000 genomes]
rs57113926	0.82[EUR][1000 genomes]
rs57285842	0.96[ASN][1000 genomes]
rs57485054	0.82[EUR][1000 genomes]
rs57627287	1.00[EUR][1000 genomes]
rs57700815	1.00[EUR][1000 genomes]
rs57833976	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57906418	0.92[EUR][1000 genomes]
rs57915728	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58030771	0.96[ASN][1000 genomes]
rs58164143	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58249730	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58262537	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58527455	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58646561	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58754116	0.96[ASN][1000 genomes]
rs58838495	0.82[EUR][1000 genomes]
rs58894799	1.00[EUR][1000 genomes]
rs59459356	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59489123	1.00[EUR][1000 genomes]
rs59584486	0.93[AFR][1000 genomes]
rs59643871	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59676931	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59770843	0.96[ASN][1000 genomes]
rs59814275	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60045571	0.82[EUR][1000 genomes]
rs60138815	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60244211	0.82[EUR][1000 genomes]
rs60503756	0.93[AFR][1000 genomes]
rs60615137	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60636815	1.00[EUR][1000 genomes]
rs60781824	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60889784	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60892581	0.95[ASN][1000 genomes]
rs61031864	1.00[EUR][1000 genomes]
rs61258380	1.00[EUR][1000 genomes]
rs61279308	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61463824	0.82[EUR][1000 genomes]
rs61496590	0.82[EUR][1000 genomes]
rs61544197	0.96[ASN][1000 genomes]
rs61563838	0.91[AFR][1000 genomes]
rs61653213	1.00[EUR][1000 genomes]
rs61679093	0.96[ASN][1000 genomes]
rs61685918	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61697996	0.96[ASN][1000 genomes]
rs6595747	1.00[ASN][1000 genomes]
rs6860581	1.00[ASN][1000 genomes]
rs6862462	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6864607	0.82[EUR][1000 genomes]
rs6872893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6882025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6883181	1.00[EUR][1000 genomes]
rs6886131	1.00[ASN][1000 genomes]
rs6888532	1.00[EUR][1000 genomes]
rs6892168	1.00[ASN][1000 genomes]
rs6893763	1.00[EUR][1000 genomes]
rs6899030	1.00[EUR][1000 genomes]
rs72505648	0.82[EUR][1000 genomes]
rs73335426	0.82[EUR][1000 genomes]
rs73335444	0.82[EUR][1000 genomes]
rs73335447	0.82[EUR][1000 genomes]
rs73335461	0.82[EUR][1000 genomes]
rs73335474	0.82[EUR][1000 genomes]
rs73335490	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73335494	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73335498	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73335501	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73337225	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73337229	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73337233	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73337299	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73339248	1.00[ASN][1000 genomes]
rs73339251	0.96[ASN][1000 genomes]
rs73339283	0.96[ASN][1000 genomes]
rs73339293	0.96[ASN][1000 genomes]
rs73783476	0.82[EUR][1000 genomes]
rs73783496	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73783501	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73783503	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73783504	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73783506	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73783507	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73783529	0.96[ASN][1000 genomes]
rs73786207	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786209	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786212	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786239	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786240	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786241	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786242	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786244	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786246	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786247	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786249	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786250	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786251	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786252	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786253	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786255	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786259	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786260	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786261	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786262	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786264	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786265	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786266	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786267	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786268	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786269	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786270	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786271	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73786272	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73786276	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786277	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786278	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786280	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786281	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786282	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786283	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786284	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786285	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786287	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786288	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786290	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786294	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786295	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73786298	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73787403	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73787404	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73787406	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7701976	0.82[EUR][1000 genomes]
rs7709865	0.89[ASN][1000 genomes]
rs7715377	0.82[EUR][1000 genomes]
rs7727719	0.82[EUR][1000 genomes]
rs9918233	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126367600-126376600	Weak transcription	Right Atrium	heart
2	chr5:126367600-126382000	Weak transcription	Primary B cells from cord blood	blood
3	chr5:126367600-126391800	Weak transcription	GM12878-XiMat	blood
4	chr5:126367800-126376600	Weak transcription	Pancreas	Pancrea
5	chr5:126368000-126376400	Weak transcription	K562	blood
6	chr5:126368000-126387200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr5:126370200-126379000	Weak transcription	Primary T cells from cord blood	blood
8	chr5:126372200-126391600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:126373400-126376400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:126374400-126376600	Weak transcription	Right Ventricle	heart
11	chr5:126374400-126385000	Weak transcription	Small Intestine	intestine
12	chr5:126374600-126376600	Weak transcription	Fetal Muscle Leg	muscle
13	chr5:126374600-126408400	Weak transcription	Psoas Muscle	Psoas
14	chr5:126374800-126376200	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr5:126374800-126376400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr5:126375000-126376200	Weak transcription	Fetal Heart	heart
17	chr5:126375000-126376400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:126375600-126377400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr5:126375800-126376200	Enhancers	Duodenum Mucosa	Duodenum
20	chr5:126375800-126376400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:126375800-126376600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:126375800-126376600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:126375800-126376600	Enhancers	HUVEC	blood vessel
24	chr5:126375800-126377400	Enhancers	Fetal Intestine Large	intestine
25	chr5:126375800-126377600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr5:126375800-126378000	Enhancers	Fetal Intestine Small	intestine
27	chr5:126375800-126378400	Enhancers	HMEC	breast
28	chr5:126376000-126376200	Enhancers	Stomach Mucosa	stomach
29	chr5:126376000-126376400	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr5:126376000-126376400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:126376000-126376400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr5:126376000-126377000	Weak transcription	Colonic Mucosa	Colon
33	chr5:126376000-126377400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:126376000-126377400	Enhancers	Left Ventricle	heart
35	chr5:126376000-126378000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:126376000-126391800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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