Variant report

Variant	rs558768
Chromosome Location	chr11:63421243-63421244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63419879..63422599-chr11:63437502..63439876,2	K562	blood:
2	chr11:63420251..63422552-chr11:63423247..63425956,2	K562	blood:

Variant related genes	Relation type
ENSG00000184743	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11826418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2030727	1.00[EUR][1000 genomes]
rs2030728	1.00[EUR][1000 genomes]
rs520908	0.84[AFR][1000 genomes]
rs592416	1.00[EUR][1000 genomes]
rs59485568	1.00[EUR][1000 genomes]
rs60027303	1.00[EUR][1000 genomes]
rs615155	1.00[EUR][1000 genomes]
rs652233	1.00[EUR][1000 genomes]
rs663053	1.00[EUR][1000 genomes]
rs672974	0.81[AFR][1000 genomes]
rs683904	1.00[EUR][1000 genomes]
rs684865	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7109362	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv353	chr11:63411216-63428498	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv832183	chr11:63416678-63564565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63393800-63426600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:63395000-63426800	Strong transcription	Dnd41	blood
3	chr11:63397800-63430800	Weak transcription	Fetal Brain Male	brain
4	chr11:63398800-63421400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:63398800-63426800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:63399000-63434000	Weak transcription	Small Intestine	intestine
7	chr11:63399200-63433800	Weak transcription	Fetal Heart	heart
8	chr11:63399800-63437800	Weak transcription	Fetal Brain Female	brain
9	chr11:63400400-63437600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:63400600-63431000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:63403400-63431000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:63403800-63427200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:63404000-63424400	Weak transcription	Esophagus	oesophagus
14	chr11:63407800-63421600	Strong transcription	Fetal Muscle Leg	muscle
15	chr11:63407800-63423400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:63407800-63426800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:63407800-63426800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr11:63407800-63427400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:63408200-63423400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:63408400-63421600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:63408400-63426800	Strong transcription	Hela-S3	cervix
22	chr11:63409600-63425600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:63409800-63423600	Strong transcription	Liver	Liver
24	chr11:63410200-63425600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:63410800-63435000	Weak transcription	Stomach Mucosa	stomach
26	chr11:63411000-63435200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr11:63411000-63437800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:63411200-63424800	Weak transcription	Fetal Kidney	kidney
29	chr11:63411200-63437000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:63411400-63424400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:63411800-63430200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr11:63414400-63422600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:63414400-63422600	Weak transcription	Fetal Thymus	thymus
34	chr11:63414600-63424400	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:63414600-63424800	Weak transcription	Aorta	Aorta
36	chr11:63414600-63435600	Weak transcription	Thymus	Thymus
37	chr11:63414600-63437400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr11:63414800-63426200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:63415600-63423600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr11:63415800-63424200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr11:63416000-63427800	Weak transcription	Brain Angular Gyrus	brain
42	chr11:63417000-63427000	Strong transcription	Osteobl	bone
43	chr11:63417200-63422800	Strong transcription	NHDF-Ad	bronchial
44	chr11:63417400-63421400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:63417400-63421600	Strong transcription	NHLF	lung
46	chr11:63417600-63421400	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr11:63417600-63421600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:63417600-63421600	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:63417600-63421600	Strong transcription	HMEC	breast
50	chr11:63417600-63421600	Strong transcription	HSMM	muscle

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