Variant report

Variant	rs523617
Chromosome Location	chr11:75205776-75205777
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74956288..74958853-chr11:75205442..75207027,2	MCF-7	breast:
2	chr11:75109850..75112062-chr11:75204799..75207466,2	K562	blood:

Variant related genes	Relation type
ENSG00000206941	Chromatin interaction
ENSG00000149273	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10751243	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1557474	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1623440	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1631865	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1790145	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1790149	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1790153	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1790154	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1790155	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1790156	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1790158	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1790160	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1793411	0.82[EUR][1000 genomes]
rs1793412	0.83[EUR][1000 genomes]
rs1793415	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1894213	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs471857	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs473462	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs474056	0.88[EUR][1000 genomes]
rs482458	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs482503	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs486326	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs488305	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs492309	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs504685	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs518611	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs532454	0.87[EUR][1000 genomes]
rs535520	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs535523	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs546632	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs547844	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs550957	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs578840	0.80[EUR][1000 genomes]
rs609793	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs611449	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs623338	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs625938	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs653673	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs668727	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75190400-75207400	Weak transcription	Fetal Stomach	stomach
2	chr11:75199400-75207000	Weak transcription	Adipose Nuclei	Adipose
3	chr11:75199400-75209800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:75200000-75219600	Weak transcription	Fetal Brain Female	brain
5	chr11:75201400-75207000	Weak transcription	Fetal Intestine Large	intestine
6	chr11:75201800-75206800	Weak transcription	HepG2	liver
7	chr11:75202000-75207000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:75202000-75207000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:75202200-75207000	Weak transcription	HSMMtube	muscle
10	chr11:75202200-75207200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:75202200-75208800	Weak transcription	HSMM	muscle
12	chr11:75202400-75210000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:75202600-75206800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:75202600-75207000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:75203400-75207000	Weak transcription	Psoas Muscle	Psoas
16	chr11:75203600-75206600	Weak transcription	A549	lung
17	chr11:75203600-75206800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:75203600-75206800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:75203600-75206800	Weak transcription	Placenta	Placenta
20	chr11:75203600-75206800	Weak transcription	Lung	lung
21	chr11:75203600-75207000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr11:75203600-75207200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:75203600-75207200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:75203600-75209000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:75203800-75206800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:75203800-75206800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr11:75203800-75206800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:75203800-75207000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:75203800-75207000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:75203800-75207000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:75203800-75207200	Weak transcription	HUVEC	blood vessel
32	chr11:75203800-75208200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:75203800-75208800	Weak transcription	Hela-S3	cervix
34	chr11:75203800-75209200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:75203800-75209200	Weak transcription	HMEC	breast
36	chr11:75203800-75209800	Weak transcription	K562	blood
37	chr11:75203800-75210800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr11:75203800-75210800	Weak transcription	Colonic Mucosa	Colon
39	chr11:75203800-75217800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:75203800-75219200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr11:75204000-75216600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr11:75204200-75213400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:75204400-75207000	Weak transcription	Fetal Brain Male	brain
44	chr11:75204400-75210600	Weak transcription	Spleen	Spleen
45	chr11:75204600-75207200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:75205600-75206800	Weak transcription	Fetal Intestine Small	intestine
47	chr11:75205600-75206800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr11:75205600-75209800	Weak transcription	Right Ventricle	heart

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