Variant report

Variant	rs7129527
Chromosome Location	chr11:108044995-108044996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:108044148..108046642-chr11:108057882..108060353,3	K562	blood:
2	chr11:108033017..108035255-chr11:108043610..108046015,2	K562	blood:
3	chr11:108006690..108008938-chr11:108043099..108044997,2	K562	blood:
4	chr11:108043561..108046117-chr11:108048946..108050489,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10890825	0.83[ASN][1000 genomes]
rs11212538	0.89[ASN][1000 genomes]
rs11212542	0.86[ASN][1000 genomes]
rs11212543	0.81[ASN][1000 genomes]
rs11212546	0.86[ASN][1000 genomes]
rs1850730	0.82[ASN][1000 genomes]
rs1893812	0.81[ASN][1000 genomes]
rs1973723	0.83[ASN][1000 genomes]
rs228595	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs228606	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3781868	0.81[ASN][1000 genomes]
rs3781869	0.88[ASN][1000 genomes]
rs4623864	0.82[ASN][1000 genomes]
rs4753833	0.88[ASN][1000 genomes]
rs4754301	0.82[ASN][1000 genomes]
rs61913701	0.83[ASN][1000 genomes]
rs651030	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6589007	0.82[ASN][1000 genomes]
rs7395528	0.81[ASN][1000 genomes]
rs7932972	0.82[ASN][1000 genomes]
rs920679	0.84[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	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1040522	chr11:107969357-108049672	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7129527	KDELC2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107993200-108069600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:108002200-108069600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:108002800-108048000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:108009200-108071000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:108009400-108062600	Strong transcription	Primary T cells from cord blood	blood
6	chr11:108009400-108068400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:108009600-108049000	Strong transcription	Placenta	Placenta
8	chr11:108009600-108068200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:108009800-108048000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr11:108010600-108071200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:108010800-108049200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:108011800-108047800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:108015600-108045000	Weak transcription	Stomach Mucosa	stomach
14	chr11:108017000-108075000	Strong transcription	Dnd41	blood
15	chr11:108022800-108052600	Weak transcription	Spleen	Spleen
16	chr11:108023000-108053000	Weak transcription	Pancreas	Pancrea
17	chr11:108023000-108055400	Weak transcription	Esophagus	oesophagus
18	chr11:108023800-108053200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:108024600-108047600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:108024800-108070400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:108026200-108072200	Strong transcription	Fetal Thymus	thymus
22	chr11:108026600-108047200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr11:108026800-108071000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:108027000-108069800	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr11:108028800-108068000	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:108029200-108067800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:108030000-108048800	Strong transcription	Fetal Intestine Large	intestine
28	chr11:108032600-108045000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr11:108032600-108075000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:108032800-108051800	Weak transcription	Gastric	stomach
31	chr11:108033400-108051800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:108033400-108053200	Weak transcription	Aorta	Aorta
33	chr11:108035400-108059600	Weak transcription	HSMMtube	muscle
34	chr11:108037200-108046800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr11:108037200-108052800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:108038400-108052200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:108039400-108068200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:108039800-108049000	Strong transcription	K562	blood
39	chr11:108040200-108057400	Weak transcription	Hela-S3	cervix
40	chr11:108040400-108053200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr11:108040400-108074000	Weak transcription	Fetal Brain Male	brain
42	chr11:108040600-108047200	Weak transcription	Brain Hippocampus Middle	brain
43	chr11:108040600-108048600	Weak transcription	HepG2	liver
44	chr11:108040600-108051200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:108040600-108051800	Weak transcription	Right Ventricle	heart
46	chr11:108040600-108053000	Weak transcription	Fetal Heart	heart
47	chr11:108040600-108053400	Weak transcription	Colon Smooth Muscle	Colon
48	chr11:108040800-108053000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:108040800-108069600	Weak transcription	Psoas Muscle	Psoas
50	chr11:108041000-108046200	Weak transcription	Fetal Lung	lung

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