Variant report

Variant	rs11206830
Chromosome Location	chr1:56960123-56960124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56958554..56961022-chr1:56963206..56965954,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10888975	0.88[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10888976	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11589246	0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1930761	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS 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 miRNA target site	20 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Eosinophilic esophagitis	25017104	GWAS catalog

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56944800-56960800	Weak transcription	Fetal Kidney	kidney
2	chr1:56948800-56965200	Weak transcription	Brain Angular Gyrus	brain
3	chr1:56955200-56961000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:56956000-56960800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:56956400-56961000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:56956600-56961200	Weak transcription	A549	lung
7	chr1:56957200-56962400	Genic enhancers	Placenta	Placenta
8	chr1:56957400-56963800	Genic enhancers	NHDF-Ad	bronchial
9	chr1:56957400-56971800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:56957600-56961000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:56957600-56961200	Weak transcription	NH-A	brain
12	chr1:56957600-56971800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:56957800-56961000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:56957800-56961600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:56957800-56963800	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:56957800-56963800	Weak transcription	Small Intestine	intestine
17	chr1:56957800-56971800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:56957800-56975600	Weak transcription	Fetal Brain Female	brain
19	chr1:56958000-56961000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:56958000-56961000	Weak transcription	Gastric	stomach
21	chr1:56958000-56961000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:56958000-56961000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:56958000-56975600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:56958000-56977000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:56958200-56960200	Weak transcription	Right Atrium	heart
26	chr1:56958200-56961000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:56958200-56961000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:56958200-56961000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:56958200-56963000	Weak transcription	Brain Anterior Caudate	brain
30	chr1:56958200-56963400	Strong transcription	Fetal Muscle Leg	muscle
31	chr1:56958200-56971600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:56958400-56960800	Enhancers	HepG2	liver
33	chr1:56958400-56961000	Weak transcription	Thymus	Thymus
34	chr1:56958400-56961000	Weak transcription	HUVEC	blood vessel
35	chr1:56958400-56961200	Weak transcription	Psoas Muscle	Psoas
36	chr1:56958400-56961600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:56958400-56968400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:56958600-56960800	Weak transcription	Colonic Mucosa	Colon
39	chr1:56958600-56962800	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr1:56958600-56968000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:56958800-56964000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:56958800-56971600	Strong transcription	Fetal Muscle Trunk	muscle
43	chr1:56959000-56966200	Strong transcription	HSMM	muscle
44	chr1:56959200-56962200	Strong transcription	Adipose Nuclei	Adipose
45	chr1:56959200-56962600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:56959200-56962600	Strong transcription	Colon Smooth Muscle	Colon
47	chr1:56959200-56962800	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:56959200-56968000	Strong transcription	Osteobl	bone
49	chr1:56959200-56968400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:56959200-56969000	Genic enhancers	Liver	Liver

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