Variant report

Variant	rs2244226
Chromosome Location	chr7:65598939-65598940
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	chr7:65549975..65551527-chr7:65598587..65601084,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10950028	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs160640	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs160641	0.85[EUR][1000 genomes]
rs2451953	0.85[EUR][1000 genomes]
rs313817	0.83[EUR][1000 genomes]
rs313818	0.85[EUR][1000 genomes]
rs313823	0.85[EUR][1000 genomes]
rs316316	0.83[EUR][1000 genomes]
rs316320	0.81[EUR][1000 genomes]
rs316323	0.81[EUR][1000 genomes]
rs316324	0.82[EUR][1000 genomes]
rs316328	0.85[EUR][1000 genomes]
rs4441996	0.84[EUR][1000 genomes]
rs73136346	0.83[EUR][1000 genomes]
rs73378304	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv607408	chr7:65590561-65599196	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv971489	chr7:65590579-65614004	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv607413	chr7:65591081-65599196	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2244226	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs2244226	GS1-124K5.4	cis	Esophagus Mucosa	GTEx
rs2244226	RNU6-96P	cis	Thyroid	GTEx
rs2244226	GS1-124K5.11	cis	Thyroid	GTEx
rs2244226	GTF2IRD1P1	cis	Thyroid	GTEx
rs2244226	RP4-756H11.3	cis	Thyroid	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65580600-65600600	Weak transcription	Aorta	Aorta
2	chr7:65580800-65606800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:65581000-65617200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:65581600-65604800	Weak transcription	Colonic Mucosa	Colon
5	chr7:65582400-65608200	Weak transcription	Fetal Brain Male	brain
6	chr7:65585400-65604400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:65587800-65606600	Weak transcription	Stomach Mucosa	stomach
8	chr7:65589800-65599600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:65590800-65613400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:65591600-65599800	Weak transcription	HSMMtube	muscle
11	chr7:65591600-65607200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:65592400-65599200	Weak transcription	Fetal Heart	heart
13	chr7:65594000-65603400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:65594600-65604000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:65594600-65604000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:65594600-65610800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:65594800-65606200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr7:65594800-65612200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:65594800-65614400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr7:65595000-65604000	Weak transcription	HUVEC	blood vessel
21	chr7:65595000-65614400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr7:65595000-65614600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:65595000-65615200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:65595200-65600600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:65595200-65602000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:65595200-65602200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:65595200-65602400	Strong transcription	Fetal Intestine Large	intestine
28	chr7:65595200-65605000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:65595200-65606200	Strong transcription	Fetal Muscle Leg	muscle
30	chr7:65595200-65613600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr7:65595200-65614000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:65595200-65622000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:65595400-65599400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:65595400-65599600	Strong transcription	Liver	Liver
35	chr7:65595400-65603600	Strong transcription	Fetal Thymus	thymus
36	chr7:65595600-65600400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:65595600-65600400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:65595600-65603400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:65595600-65623200	Strong transcription	Dnd41	blood
40	chr7:65595600-65623800	Strong transcription	Primary T cells from cord blood	blood
41	chr7:65595800-65599800	Strong transcription	GM12878-XiMat	blood
42	chr7:65595800-65601400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr7:65595800-65603400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:65595800-65603600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:65595800-65605600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:65595800-65608200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr7:65595800-65617200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:65595800-65620000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr7:65596000-65599800	Strong transcription	Left Ventricle	heart
50	chr7:65596200-65600600	Strong transcription	NHDF-Ad	bronchial

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