Variant report

Variant	rs7292708
Chromosome Location	chr22:29469130-29469131
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29279568..29281765-chr22:29467462..29470387,2	K562	blood:

Variant related genes	Relation type
ENSG00000183579	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12329960	0.81[EUR][1000 genomes]
rs134564	0.87[EUR][1000 genomes]
rs134577	0.87[EUR][1000 genomes]
rs134588	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs134592	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs134596	0.90[EUR][1000 genomes]
rs134598	0.87[EUR][1000 genomes]
rs134608	0.89[EUR][1000 genomes]
rs134622	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs134631	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs134636	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs134641	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs134644	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs134653	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs134657	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs134660	0.89[EUR][1000 genomes]
rs134666	0.81[EUR][1000 genomes]
rs134669	0.84[EUR][1000 genomes]
rs134670	0.84[EUR][1000 genomes]
rs134672	0.84[EUR][1000 genomes]
rs134676	0.80[EUR][1000 genomes]
rs134677	0.81[EUR][1000 genomes]
rs5752864	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs713861	0.89[EUR][1000 genomes];0.81[ASN][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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524259	chr22:29467221-29482221	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3350194	chr22:29468252-29470350	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7292708	KREMEN1	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29467000-29470400	Enhancers	Fetal Heart	heart
2	chr22:29467200-29470200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr22:29467200-29470400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr22:29467200-29470400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr22:29467200-29470600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr22:29467200-29471200	Active TSS	Ovary	ovary
7	chr22:29467400-29469600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr22:29467400-29469600	Active TSS	Right Ventricle	heart
9	chr22:29467400-29470000	Active TSS	Aorta	Aorta
10	chr22:29467400-29470200	Active TSS	Psoas Muscle	Psoas
11	chr22:29467400-29470200	Active TSS	Right Atrium	heart
12	chr22:29467600-29470400	Active TSS	HSMM	muscle
13	chr22:29467800-29470200	Active TSS	Brain Substantia Nigra	brain
14	chr22:29467800-29470400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr22:29468000-29470600	Flanking Active TSS	Colonic Mucosa	Colon
16	chr22:29468200-29469400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr22:29468400-29469200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr22:29468400-29469400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:29468400-29469800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr22:29468400-29469800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr22:29468400-29470000	Active TSS	HSMMtube	muscle
22	chr22:29468600-29469200	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr22:29468600-29469200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr22:29468600-29469800	Active TSS	A549	lung
25	chr22:29468600-29470200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr22:29468600-29470200	Active TSS	Brain Angular Gyrus	brain
27	chr22:29468600-29470200	Active TSS	Brain Anterior Caudate	brain
28	chr22:29468600-29470200	Active TSS	Left Ventricle	heart
29	chr22:29468600-29470600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr22:29468600-29470600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr22:29468600-29471400	Active TSS	Fetal Kidney	kidney
32	chr22:29468800-29469200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr22:29468800-29469200	Active TSS	Primary B cells from cord blood	blood
34	chr22:29468800-29469200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
35	chr22:29468800-29469200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr22:29468800-29469200	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
37	chr22:29468800-29469200	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
38	chr22:29468800-29469200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
39	chr22:29468800-29469200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr22:29468800-29469200	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
41	chr22:29468800-29469200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr22:29468800-29469200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
43	chr22:29468800-29469200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr22:29468800-29469200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr22:29468800-29469200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr22:29468800-29469200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr22:29468800-29469200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr22:29468800-29469200	Active TSS	Adipose Nuclei	Adipose
49	chr22:29468800-29469200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr22:29468800-29469200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle

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