Variant report

Variant	rs9988823
Chromosome Location	chr11:46345665-46345666
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46258591..46261411-chr11:46342947..46346169,4	K562	blood:
2	chr11:46338683..46341557-chr11:46343415..46346648,3	MCF-7	breast:
3	chr11:46128096..46131028-chr11:46343420..46346390,2	K562	blood:
4	chr11:46270181..46272559-chr11:46343400..46346346,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254639	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1044796	0.82[ASN][1000 genomes]
rs12285419	0.88[ASN][1000 genomes]
rs12294928	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6485675	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7952650	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS 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	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46319400-46346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:46329200-46346800	Weak transcription	Fetal Kidney	kidney
3	chr11:46330200-46349400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:46330600-46346200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:46330600-46348200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:46330600-46348800	Strong transcription	Fetal Stomach	stomach
7	chr11:46330800-46348200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:46334400-46346000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:46336800-46346800	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:46337600-46346000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr11:46338800-46351400	Weak transcription	Fetal Heart	heart
12	chr11:46340200-46348200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:46340600-46348400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:46340600-46349000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:46340800-46346800	Weak transcription	Fetal Lung	lung
16	chr11:46341000-46348200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:46341200-46346000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:46342000-46351000	Weak transcription	Primary T cells from cord blood	blood
19	chr11:46342200-46348600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:46342400-46352000	Weak transcription	Right Ventricle	heart
21	chr11:46342600-46347200	Weak transcription	Colonic Mucosa	Colon
22	chr11:46342600-46347400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:46342600-46348400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr11:46342600-46352200	Weak transcription	Ovary	ovary
25	chr11:46342600-46353200	Weak transcription	Spleen	Spleen
26	chr11:46343000-46347400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:46343200-46353800	Weak transcription	Pancreas	Pancrea
28	chr11:46343400-46351200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:46343600-46348200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:46343800-46346200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:46343800-46346400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:46343800-46349200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:46343800-46349400	Weak transcription	NHLF	lung
34	chr11:46344000-46346200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr11:46344000-46346200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr11:46344000-46346800	Weak transcription	Fetal Intestine Large	intestine
37	chr11:46344000-46347400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr11:46344000-46351400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:46344000-46352000	Weak transcription	Left Ventricle	heart
40	chr11:46344000-46354000	Weak transcription	Gastric	stomach
41	chr11:46344200-46347000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr11:46344200-46349000	Weak transcription	Osteobl	bone
43	chr11:46344200-46349600	Weak transcription	NHDF-Ad	bronchial
44	chr11:46344200-46351400	Weak transcription	HSMMtube	muscle
45	chr11:46344400-46347200	Weak transcription	Fetal Muscle Leg	muscle
46	chr11:46344600-46346200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:46344800-46347400	Weak transcription	Fetal Intestine Small	intestine
48	chr11:46344800-46349400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr11:46344800-46351000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr11:46344800-46351600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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