Variant report

Variant	rs7943699
Chromosome Location	chr11:46320022-46320023
allele	A/G
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	chr11:46317049..46320167-chr11:46328612..46332457,5	K562	blood:
2	chr11:46140899..46143047-chr11:46318181..46320083,2	K562	blood:
3	chr11:46258381..46272821-chr11:46315090..46322037,29	K562	blood:
4	chr11:46255391..46271183-chr11:46315085..46324739,29	K562	blood:
5	chr11:46292495..46300520-chr11:46315192..46320567,9	MCF-7	breast:
6	chr11:46293083..46308698-chr11:46310742..46320666,35	K562	blood:
7	chr11:46269923..46271809-chr11:46317327..46320786,3	MCF-7	breast:
8	chr11:46319743..46322548-chr11:46366934..46370497,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254639	Chromatin interaction
ENSG00000157613	Chromatin interaction
ENSG00000149091	Chromatin interaction
ENSG00000135365	Chromatin interaction
ENSG00000255007	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11038856	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3835060	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6485672	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6485673	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6485674	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46317000-46321800	Enhancers	Stomach Mucosa	stomach
2	chr11:46317600-46320400	Enhancers	A549	lung
3	chr11:46317800-46320800	Enhancers	Hela-S3	cervix
4	chr11:46318000-46320400	Enhancers	NHDF-Ad	bronchial
5	chr11:46318000-46320800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr11:46318000-46321000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:46318000-46321000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:46318200-46320200	Weak transcription	GM12878-XiMat	blood
9	chr11:46318200-46320800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:46318200-46320800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:46318200-46321200	Weak transcription	Gastric	stomach
12	chr11:46318200-46321200	Weak transcription	Spleen	Spleen
13	chr11:46318200-46330200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:46318600-46320200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:46318600-46320400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:46318600-46320400	Weak transcription	NHEK	skin
17	chr11:46318600-46320800	Enhancers	Osteobl	bone
18	chr11:46318800-46321200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:46318800-46321400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr11:46319000-46320600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:46319000-46320800	Weak transcription	Lung	lung
22	chr11:46319000-46326800	Weak transcription	Esophagus	oesophagus
23	chr11:46319000-46329200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:46319200-46320800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:46319200-46320800	Weak transcription	Pancreas	Pancrea
26	chr11:46319200-46320800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr11:46319200-46320800	Enhancers	NH-A	brain
28	chr11:46319200-46321000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr11:46319200-46321200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:46319200-46321200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr11:46319200-46321200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:46319200-46323800	Weak transcription	Fetal Lung	lung
33	chr11:46319200-46323800	Weak transcription	HSMMtube	muscle
34	chr11:46319200-46324000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:46319200-46326000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:46319200-46326600	Weak transcription	Placenta	Placenta
37	chr11:46319200-46328200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:46319200-46329200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:46319200-46330000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:46319200-46330000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr11:46319200-46330400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:46319200-46337600	Weak transcription	Right Ventricle	heart
43	chr11:46319200-46342000	Weak transcription	Ovary	ovary
44	chr11:46319400-46320800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr11:46319400-46320800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:46319400-46320800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:46319400-46320800	Weak transcription	Fetal Intestine Large	intestine
48	chr11:46319400-46321200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:46319400-46321200	Weak transcription	Fetal Intestine Small	intestine
50	chr11:46319400-46322800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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