Variant report

Variant	rs57380316
Chromosome Location	chr11:72124287-72124288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72061368..72063035-chr11:72123475..72125545,2	MCF-7	breast:
2	chr11:72122262..72124847-chr11:72125756..72129287,3	K562	blood:
3	chr11:72124108..72125861-chr11:72145694..72147831,2	K562	blood:
4	chr11:72119833..72122174-chr11:72123210..72126120,3	K562	blood:
5	chr11:72122257..72124769-chr11:72127877..72129539,2	MCF-7	breast:
6	chr11:71950757..71953451-chr11:72123602..72126207,2	K562	blood:
7	chr11:72000816..72003151-chr11:72122294..72124568,2	K562	blood:
8	chr11:72119428..72121403-chr11:72123210..72125318,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256739	Chromatin interaction
ENSG00000165462	Chromatin interaction
ENSG00000256403	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11235499	0.90[ASN][1000 genomes]
rs1160142	1.00[EUR][1000 genomes]
rs11821309	0.85[ASN][1000 genomes]
rs11828128	0.85[ASN][1000 genomes]
rs12295464	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17160018	0.95[EUR][1000 genomes]
rs17162150	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1864322	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57402767	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58058345	1.00[EUR][1000 genomes]
rs58515298	1.00[EUR][1000 genomes]
rs58571741	1.00[EUR][1000 genomes]
rs7107422	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7109307	1.00[EUR][1000 genomes]
rs7109466	0.97[EUR][1000 genomes]
rs7111173	0.85[EUR][1000 genomes]
rs7118089	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7118697	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7120137	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7129526	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7927430	1.00[EUR][1000 genomes]
rs7938979	0.87[EUR][1000 genomes]
rs7939212	0.85[EUR][1000 genomes]
rs7940087	0.87[EUR][1000 genomes]
rs7947482	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7950298	0.95[EUR][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	nsv832206	chr11:72006573-72176017	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72099600-72125000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:72099600-72125000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:72105400-72124800	Weak transcription	A549	lung
4	chr11:72106800-72136800	Weak transcription	Esophagus	oesophagus
5	chr11:72106800-72136800	Weak transcription	NHLF	lung
6	chr11:72107600-72125000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:72107800-72125000	Weak transcription	Fetal Heart	heart
8	chr11:72109600-72137000	Weak transcription	Osteobl	bone
9	chr11:72109800-72139200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:72110000-72134600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:72110600-72139000	Weak transcription	Colonic Mucosa	Colon
12	chr11:72111800-72138400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:72112000-72124800	Weak transcription	HSMMtube	muscle
14	chr11:72113000-72125000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:72113000-72125000	Weak transcription	HSMM	muscle
16	chr11:72113200-72124800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:72114000-72125000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:72114000-72125000	Weak transcription	Psoas Muscle	Psoas
19	chr11:72114000-72130000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:72114000-72132000	Weak transcription	Dnd41	blood
21	chr11:72114000-72138000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr11:72114200-72124800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:72114200-72125000	Weak transcription	Left Ventricle	heart
24	chr11:72114200-72138600	Weak transcription	Ovary	ovary
25	chr11:72114400-72125000	Weak transcription	Primary T cells from cord blood	blood
26	chr11:72114600-72125000	Weak transcription	Hela-S3	cervix
27	chr11:72115200-72136600	Weak transcription	Aorta	Aorta
28	chr11:72117200-72128600	Enhancers	HepG2	liver
29	chr11:72117800-72129200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:72118400-72125000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:72118400-72125000	Weak transcription	Right Atrium	heart
32	chr11:72118400-72125400	Weak transcription	NHEK	skin
33	chr11:72118400-72128800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:72121600-72124800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:72121800-72125200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr11:72122400-72125000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr11:72122800-72125000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:72123000-72124800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr11:72123000-72125000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:72123000-72125000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr11:72123000-72125200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr11:72123200-72124800	Weak transcription	Fetal Muscle Leg	muscle
43	chr11:72123200-72125000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:72123200-72125000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:72123200-72125000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:72123200-72125000	Weak transcription	Right Ventricle	heart
47	chr11:72123200-72125000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr11:72123400-72124800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:72123400-72124800	Weak transcription	Adipose Nuclei	Adipose
50	chr11:72123400-72124800	Weak transcription	Brain Anterior Caudate	brain

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