Variant report

Variant	rs549304
Chromosome Location	chr11:75081480-75081481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75061282..75063321-chr11:75080294..75083043,2	K562	blood:
2	chr11:75056296..75059058-chr11:75079339..75081796,2	MCF-7	breast:
3	chr11:75060299..75064917-chr11:75081328..75085491,12	MCF-7	breast:
4	chr11:75081448..75083350-chr11:75141892..75143831,2	MCF-7	breast:
5	chr11:75062502..75064069-chr11:75081133..75083149,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137486	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs3016303	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs477837	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568556	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs580077	0.84[ASN][1000 genomes]
rs657270	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs658573	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75064200-75086800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:75077200-75083000	Weak transcription	Fetal Lung	lung
3	chr11:75077600-75083200	Weak transcription	Adipose Nuclei	Adipose
4	chr11:75077800-75081600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:75078200-75082800	Weak transcription	K562	blood
6	chr11:75079200-75083000	Weak transcription	Placenta	Placenta
7	chr11:75080600-75081600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr11:75080600-75083600	Enhancers	Primary hematopoietic stem cells	blood
9	chr11:75080800-75081800	Enhancers	Stomach Mucosa	stomach
10	chr11:75081000-75082400	Weak transcription	Colonic Mucosa	Colon
11	chr11:75081000-75083200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:75081200-75081800	Bivalent Enhancer	A549	lung
13	chr11:75081200-75082000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:75081200-75082800	Weak transcription	Hela-S3	cervix
15	chr11:75081200-75083000	Weak transcription	Liver	Liver
16	chr11:75081200-75083000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:75081200-75083000	Weak transcription	Spleen	Spleen
18	chr11:75081200-75083400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:75081200-75083600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:75081200-75084000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr11:75081200-75086600	Weak transcription	Gastric	stomach
22	chr11:75081200-75095200	Weak transcription	Dnd41	blood
23	chr11:75081400-75081800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr11:75081400-75082600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr11:75081400-75082600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:75081400-75083200	Weak transcription	HUVEC	blood vessel
27	chr11:75081400-75083600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:75081400-75091800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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