Variant report

Variant	rs2077144
Chromosome Location	chr11:17427822-17427823
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr11:17426954-17427931	U2OS	brain:	n/a	chr11:17426998-17427006

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:17426991..17427860-chr11:17946039..17946557,2	MCF-7	breast:
2	chr11:17260522..17261598-chr11:17427013..17427898,6	MCF-7	breast:
3	chr11:17426978..17427915-chr11:17791365..17792205,5	MCF-7	breast:
4	chr11:17407926..17410738-chr11:17427633..17429679,2	MCF-7	breast:
5	chr11:17427090..17427897-chr18:46517244..46517764,2	MCF-7	breast:
6	chr11:17426978..17427915-chr11:17791365..17792221,7	MCF-7	breast:
7	chr11:17425857..17428826-chr11:17463749..17466704,2	K562	blood:
8	chr11:17427066..17427830-chr11:17464406..17465035,2	MCF-7	breast:
9	chr11:17418305..17421610-chr11:17424187..17428054,3	K562	blood:

No data

Variant related genes	Relation type
ABCC8	TF binding region
ENSG00000006071	Chromatin interaction
ENSG00000187486	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2073583	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237992	0.91[EUR][1000 genomes]
rs7947462	0.91[EUR][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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv517772	chr11:17401134-17427862	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv528959	chr11:17403639-17435214	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv467713	chr11:17408025-17440473	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv553584	chr11:17408025-17440473	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17411800-17435000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:17413200-17432400	Weak transcription	Dnd41	blood
3	chr11:17417800-17428200	Weak transcription	Gastric	stomach
4	chr11:17418600-17453600	Weak transcription	Fetal Brain Female	brain
5	chr11:17422000-17428600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:17422000-17435800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:17425200-17428000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:17425600-17428800	Enhancers	Adipose Nuclei	Adipose
9	chr11:17426000-17428000	Enhancers	HSMM	muscle
10	chr11:17426000-17428800	Enhancers	Lung	lung
11	chr11:17426200-17429000	Enhancers	Left Ventricle	heart
12	chr11:17426400-17428600	Enhancers	Psoas Muscle	Psoas
13	chr11:17426600-17429600	Enhancers	Pancreas	Pancrea
14	chr11:17426800-17428000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:17426800-17428000	Enhancers	NHDF-Ad	bronchial
16	chr11:17426800-17428200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr11:17426800-17428200	Enhancers	Fetal Intestine Small	intestine
18	chr11:17426800-17428200	Enhancers	HSMMtube	muscle
19	chr11:17426800-17428400	Enhancers	Brain Hippocampus Middle	brain
20	chr11:17426800-17428400	Enhancers	Fetal Muscle Leg	muscle
21	chr11:17426800-17428400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr11:17426800-17428600	Enhancers	Spleen	Spleen
23	chr11:17426800-17428800	Enhancers	Right Ventricle	heart
24	chr11:17427000-17428000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr11:17427000-17428000	Enhancers	Fetal Intestine Large	intestine
26	chr11:17427000-17428200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:17427000-17428400	Genic enhancers	Brain Inferior Temporal Lobe	brain
28	chr11:17427000-17428400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr11:17427200-17428000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:17427200-17428000	Enhancers	Stomach Mucosa	stomach
31	chr11:17427200-17428200	Enhancers	Colon Smooth Muscle	Colon
32	chr11:17427200-17428200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:17427400-17428000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:17427400-17428000	Enhancers	Fetal Lung	lung
35	chr11:17427400-17428400	Enhancers	Brain Substantia Nigra	brain
36	chr11:17427400-17428400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr11:17427400-17428600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:17427400-17428600	Enhancers	Liver	Liver
39	chr11:17427400-17428600	Enhancers	Right Atrium	heart
40	chr11:17427600-17428000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:17427600-17428000	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr11:17427600-17428000	Enhancers	A549	lung
43	chr11:17427600-17428000	Enhancers	GM12878-XiMat	blood
44	chr11:17427600-17428200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:17427600-17428200	Enhancers	Brain Cingulate Gyrus	brain
46	chr11:17427600-17428200	Enhancers	HepG2	liver
47	chr11:17427600-17428600	Enhancers	Brain Anterior Caudate	brain
48	chr11:17427800-17428000	Enhancers	Duodenum Mucosa	Duodenum
49	chr11:17427800-17428200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:17427800-17428200	Enhancers	Rectal Mucosa Donor 31	rectum

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