Variant report

Variant	rs55684976
Chromosome Location	chr6:144618860-144618861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144613353..144615831-chr6:144616673..144618969,2	MCF-7	breast:
2	chr6:144605120..144606682-chr6:144616870..144619155,2	K562	blood:
3	chr6:144611475..144613339-chr6:144617031..144618906,2	K562	blood:

Variant related genes	Relation type
ENSG00000152818	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs11962764	0.80[ASN][1000 genomes]
rs12660406	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12660513	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12660531	1.00[EUR][1000 genomes]
rs12660596	1.00[EUR][1000 genomes]
rs12661781	1.00[EUR][1000 genomes]
rs12661969	1.00[EUR][1000 genomes]
rs12662267	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12662696	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12662724	1.00[EUR][1000 genomes]
rs12662786	1.00[EUR][1000 genomes]
rs12662872	1.00[EUR][1000 genomes]
rs12662904	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12662914	0.87[AMR][1000 genomes]
rs12663172	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12663380	1.00[EUR][1000 genomes]
rs12663605	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12663851	1.00[EUR][1000 genomes]
rs12664200	1.00[EUR][1000 genomes]
rs12664245	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12664298	1.00[EUR][1000 genomes]
rs12664304	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12665589	1.00[EUR][1000 genomes]
rs12665850	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17073442	1.00[EUR][1000 genomes]
rs17073463	1.00[EUR][1000 genomes]
rs17073482	1.00[EUR][1000 genomes]
rs17073498	1.00[EUR][1000 genomes]
rs17073506	1.00[EUR][1000 genomes]
rs17073524	1.00[EUR][1000 genomes]
rs17073528	1.00[EUR][1000 genomes]
rs17073529	1.00[EUR][1000 genomes]
rs17073544	1.00[EUR][1000 genomes]
rs17073571	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073578	0.80[ASN][1000 genomes]
rs17073580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073598	1.00[EUR][1000 genomes]
rs17073602	1.00[EUR][1000 genomes]
rs17073610	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17073623	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17073629	1.00[EUR][1000 genomes]
rs17073631	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17073672	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17073678	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17840301	1.00[EUR][1000 genomes]
rs1998367	1.00[EUR][1000 genomes]
rs34140249	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34502493	1.00[EUR][1000 genomes]
rs35325795	1.00[EUR][1000 genomes]
rs35681372	1.00[EUR][1000 genomes]
rs36007040	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3811097	1.00[EUR][1000 genomes]
rs4301321	1.00[EUR][1000 genomes]
rs4896714	1.00[EUR][1000 genomes]
rs4896715	1.00[EUR][1000 genomes]
rs4896717	1.00[EUR][1000 genomes]
rs56820385	1.00[EUR][1000 genomes]
rs56897751	1.00[EUR][1000 genomes]
rs57069580	1.00[EUR][1000 genomes]
rs57380483	1.00[EUR][1000 genomes]
rs57485302	1.00[EUR][1000 genomes]
rs57592921	1.00[EUR][1000 genomes]
rs57679521	1.00[EUR][1000 genomes]
rs57704478	1.00[EUR][1000 genomes]
rs57712072	1.00[EUR][1000 genomes]
rs57751197	1.00[EUR][1000 genomes]
rs58084770	1.00[EUR][1000 genomes]
rs58396690	1.00[EUR][1000 genomes]
rs58590469	1.00[EUR][1000 genomes]
rs58847604	1.00[EUR][1000 genomes]
rs58849686	1.00[EUR][1000 genomes]
rs58857193	1.00[EUR][1000 genomes]
rs59003501	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59612420	1.00[EUR][1000 genomes]
rs59614628	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59718967	1.00[EUR][1000 genomes]
rs59803839	1.00[EUR][1000 genomes]
rs59810504	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59892317	0.87[AMR][1000 genomes]
rs59936141	1.00[EUR][1000 genomes]
rs60053855	1.00[EUR][1000 genomes]
rs60188478	1.00[EUR][1000 genomes]
rs60234245	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60345197	1.00[EUR][1000 genomes]
rs60439721	1.00[EUR][1000 genomes]
rs60484357	1.00[EUR][1000 genomes]
rs60559108	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60634096	1.00[EUR][1000 genomes]
rs60661533	0.87[AMR][1000 genomes]
rs60762289	1.00[EUR][1000 genomes]
rs60811448	1.00[EUR][1000 genomes]
rs60857439	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60859726	1.00[EUR][1000 genomes]
rs61087655	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61211447	1.00[EUR][1000 genomes]
rs61249035	1.00[EUR][1000 genomes]
rs61327932	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6914753	1.00[EUR][1000 genomes]
rs6915621	1.00[EUR][1000 genomes]
rs6917261	1.00[EUR][1000 genomes]
rs6922109	1.00[EUR][1000 genomes]
rs6922608	1.00[EUR][1000 genomes]
rs6927798	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73589002	1.00[EUR][1000 genomes]
rs73591113	1.00[EUR][1000 genomes]
rs73594934	1.00[EUR][1000 genomes]
rs73780508	1.00[EUR][1000 genomes]
rs73780540	1.00[EUR][1000 genomes]
rs7741466	1.00[EUR][1000 genomes]
rs7745240	1.00[EUR][1000 genomes]
rs7747486	1.00[EUR][1000 genomes]
rs7751351	1.00[EUR][1000 genomes]
rs7751876	1.00[EUR][1000 genomes]
rs7754883	1.00[EUR][1000 genomes]
rs7766883	1.00[EUR][1000 genomes]
rs7768531	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7774175	1.00[EUR][1000 genomes]
rs9484874	1.00[EUR][1000 genomes]
rs9496932	1.00[EUR][1000 genomes]
rs9496935	1.00[EUR][1000 genomes]
rs9496938	1.00[EUR][1000 genomes]
rs9496944	1.00[EUR][1000 genomes]
rs9496955	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144608400-144626600	Weak transcription	Spleen	Spleen
2	chr6:144608600-144619400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:144608600-144626800	Weak transcription	Esophagus	oesophagus
4	chr6:144608600-144629800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:144608600-144631400	Weak transcription	Colonic Mucosa	Colon
6	chr6:144609200-144623800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:144609200-144623800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:144609200-144626800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:144609200-144641600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:144609600-144628800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:144609600-144629000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:144609600-144629800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:144611400-144626800	Weak transcription	Fetal Thymus	thymus
14	chr6:144612400-144624000	Weak transcription	Ovary	ovary
15	chr6:144613800-144626800	Weak transcription	Thymus	Thymus
16	chr6:144615400-144630200	Weak transcription	Hela-S3	cervix
17	chr6:144615800-144623800	Weak transcription	HMEC	breast
18	chr6:144616200-144620200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:144616400-144619600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:144616400-144619800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:144616400-144648000	Weak transcription	NHEK	skin
22	chr6:144616800-144619800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:144616800-144619800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr6:144616800-144620200	Genic enhancers	HepG2	liver
25	chr6:144617000-144619000	Strong transcription	HSMMtube	muscle
26	chr6:144617000-144620400	Strong transcription	HSMM	muscle
27	chr6:144617000-144623800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:144617200-144619600	Enhancers	Psoas Muscle	Psoas
29	chr6:144617200-144629400	Weak transcription	Placenta	Placenta
30	chr6:144617200-144636400	Weak transcription	A549	lung
31	chr6:144617400-144619400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:144617400-144619800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:144617400-144619800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr6:144617400-144620800	Enhancers	Adipose Nuclei	Adipose
35	chr6:144617400-144623800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr6:144617400-144625600	Weak transcription	Fetal Kidney	kidney
37	chr6:144617400-144626800	Weak transcription	Aorta	Aorta
38	chr6:144617400-144628600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr6:144617400-144628800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:144617400-144629000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr6:144617400-144630200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:144617400-144632800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr6:144617600-144619200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr6:144617600-144619800	Enhancers	Small Intestine	intestine
45	chr6:144617600-144623800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:144617600-144629000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr6:144617600-144629800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:144617800-144619000	Enhancers	Fetal Intestine Large	intestine
49	chr6:144617800-144619200	Genic enhancers	Osteobl	bone
50	chr6:144617800-144619800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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