Variant report

Variant	rs57068944
Chromosome Location	chr13:80067003-80067004
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:80066505..80068962-chr13:80069682..80071575,2	MCF-7	breast:
2	chr13:80054534..80056612-chr13:80065501..80067277,2	MCF-7	breast:
3	chr13:80063503..80065640-chr13:80065674..80068573,2	MCF-7	breast:
4	chr13:80054213..80059626-chr13:80061919..80068879,9	K562	blood:

Variant related genes	Relation type
ENSG00000102471	Chromatin interaction
ENSG00000232132	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs17071373	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17071564	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17071576	1.00[AMR][1000 genomes]
rs17071581	1.00[AMR][1000 genomes]
rs17071592	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17071596	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17071599	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17071601	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17071609	1.00[AMR][1000 genomes]
rs17071610	1.00[AMR][1000 genomes]
rs17071613	1.00[AMR][1000 genomes]
rs17071624	1.00[AMR][1000 genomes]
rs55887763	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56737007	1.00[AMR][1000 genomes]
rs56823234	1.00[AMR][1000 genomes]
rs57066341	1.00[AMR][1000 genomes]
rs57560404	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57603166	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57615648	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57863151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58006070	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58088304	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58260634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58322995	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58325260	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58379158	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58833188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58930697	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59105864	1.00[AMR][1000 genomes]
rs59232955	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59245717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59331936	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59604922	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59945183	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60119719	0.99[AFR][1000 genomes]
rs60183984	1.00[AMR][1000 genomes]
rs60240323	1.00[AMR][1000 genomes]
rs60575675	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60827595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61216430	1.00[AMR][1000 genomes]
rs61368443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61464969	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7139938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7323341	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7324225	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7328479	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7332059	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7332241	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7337248	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548917	1.00[AMR][1000 genomes]
rs73548923	1.00[AMR][1000 genomes]
rs73548924	1.00[AMR][1000 genomes]
rs73548926	1.00[AMR][1000 genomes]
rs73548938	1.00[AMR][1000 genomes]
rs73548941	1.00[AMR][1000 genomes]
rs73548942	1.00[AMR][1000 genomes]
rs73549001	1.00[AMR][1000 genomes]
rs73551505	1.00[AMR][1000 genomes]
rs73551522	1.00[AMR][1000 genomes]
rs73551530	1.00[AMR][1000 genomes]
rs73551537	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551544	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551547	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551548	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551551	1.00[AMR][1000 genomes]
rs73551555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551567	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551569	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551570	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551575	1.00[AMR][1000 genomes]
rs73551578	1.00[AMR][1000 genomes]
rs73551581	1.00[AMR][1000 genomes]
rs73551583	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551589	1.00[AMR][1000 genomes]
rs73551592	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551599	1.00[AMR][1000 genomes]
rs73553407	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73553414	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73553416	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73553419	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73553423	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73553442	1.00[AMR][1000 genomes]
rs73553454	1.00[AMR][1000 genomes]
rs73553459	1.00[AMR][1000 genomes]
rs73564691	1.00[AMR][1000 genomes]
rs73566444	1.00[AMR][1000 genomes]
rs74098262	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74100736	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7983904	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7988143	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7990488	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80056200-80077400	Weak transcription	Right Ventricle	heart
2	chr13:80059000-80077200	Weak transcription	Small Intestine	intestine
3	chr13:80059600-80068800	Weak transcription	Brain Substantia Nigra	brain
4	chr13:80060000-80075600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr13:80061200-80071200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr13:80062000-80075800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr13:80063400-80077200	Weak transcription	K562	blood
8	chr13:80063600-80067600	Enhancers	Duodenum Mucosa	Duodenum
9	chr13:80064600-80067200	Enhancers	NH-A	brain
10	chr13:80064600-80067400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr13:80064600-80069000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr13:80064600-80069000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr13:80064800-80067200	Enhancers	HSMM	muscle
14	chr13:80064800-80069000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr13:80064800-80069000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr13:80064800-80069800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:80064800-80084800	Weak transcription	Fetal Intestine Small	intestine
18	chr13:80065000-80067800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr13:80065000-80068400	Flanking Active TSS	Dnd41	blood
20	chr13:80065000-80068800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:80065200-80067600	Enhancers	Adipose Nuclei	Adipose
22	chr13:80065200-80067800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr13:80065400-80067200	Flanking Active TSS	Hela-S3	cervix
24	chr13:80065400-80068000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr13:80065400-80068400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr13:80065800-80067600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr13:80065800-80067600	Enhancers	Fetal Lung	lung
28	chr13:80065800-80068000	Enhancers	Primary T cells from cord blood	blood
29	chr13:80066000-80067200	Enhancers	Osteobl	bone
30	chr13:80066000-80067800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr13:80066000-80068000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr13:80066000-80068000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr13:80066200-80067200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr13:80066200-80067200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr13:80066200-80067200	Flanking Active TSS	HMEC	breast
36	chr13:80066200-80067400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr13:80066200-80067400	Enhancers	Stomach Smooth Muscle	stomach
38	chr13:80066200-80067800	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr13:80066400-80067400	Enhancers	HSMMtube	muscle
40	chr13:80066400-80067800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr13:80066400-80069400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr13:80066600-80067600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr13:80066600-80067800	Enhancers	A549	lung
44	chr13:80066600-80068000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:80066600-80068000	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr13:80066600-80068600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr13:80066600-80069000	Enhancers	Brain Angular Gyrus	brain
48	chr13:80066600-80069200	Flanking Active TSS	NHEK	skin
49	chr13:80066800-80067200	Enhancers	HUVEC	blood vessel
50	chr13:80066800-80067400	Enhancers	Muscle Satellite Cultured Cells	--

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