Variant report

Variant	rs9613819
Chromosome Location	chr22:29517987-29517988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr22:29517976-29518605	SK-N-SH	brain:	n/a	n/a
2	RFX5	chr22:29517901-29518530	IMR90	lung:	n/a	n/a
3	CREB1	chr22:29517984-29518384	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
KREMEN1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12329960	0.83[AMR][1000 genomes]
rs134657	0.81[AMR][1000 genomes]
rs134660	0.81[AMR][1000 genomes]
rs134669	0.83[AMR][1000 genomes]
rs134670	0.84[AMR][1000 genomes]
rs134672	0.84[AMR][1000 genomes]
rs134676	0.84[AMR][1000 genomes]
rs134677	0.84[AMR][1000 genomes]
rs6005997	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9613819	KREMEN1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr22:29486600-29519000	Weak transcription	Fetal Brain Male	brain
3	chr22:29488400-29521200	Weak transcription	Lung	lung
4	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
5	chr22:29491200-29521200	Weak transcription	Colonic Mucosa	Colon
6	chr22:29491600-29522200	Weak transcription	Liver	Liver
7	chr22:29493200-29521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr22:29493200-29521200	Weak transcription	Pancreas	Pancrea
9	chr22:29493200-29536400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr22:29504800-29521800	Weak transcription	NHEK	skin
11	chr22:29505000-29521000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr22:29505800-29533000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr22:29506000-29521000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr22:29506400-29520000	Weak transcription	Fetal Thymus	thymus
15	chr22:29506400-29521000	Weak transcription	Right Ventricle	heart
16	chr22:29506400-29522200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr22:29506400-29522400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr22:29507000-29520200	Weak transcription	Thymus	Thymus
19	chr22:29508200-29537200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr22:29509400-29524400	Weak transcription	NHDF-Ad	bronchial
21	chr22:29509400-29525000	Weak transcription	Osteobl	bone
22	chr22:29510000-29519800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr22:29510000-29525400	Weak transcription	Brain Anterior Caudate	brain
24	chr22:29510000-29528200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr22:29510000-29530800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr22:29510000-29531000	Weak transcription	Brain Hippocampus Middle	brain
27	chr22:29510200-29521000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr22:29510200-29531000	Weak transcription	Brain Substantia Nigra	brain
29	chr22:29512400-29522200	Weak transcription	Small Intestine	intestine
30	chr22:29512600-29519800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr22:29512600-29533000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr22:29514200-29521200	Weak transcription	Left Ventricle	heart
33	chr22:29514200-29521400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr22:29514200-29522200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr22:29514400-29532800	Weak transcription	Gastric	stomach
36	chr22:29514600-29521000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr22:29514600-29521800	Weak transcription	Placenta	Placenta
38	chr22:29514600-29522200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:29514800-29521600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr22:29515000-29519600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr22:29515000-29521000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr22:29515000-29533000	Weak transcription	Colon Smooth Muscle	Colon
43	chr22:29515600-29533800	Weak transcription	Brain Germinal Matrix	brain
44	chr22:29516600-29521800	Weak transcription	Brain Angular Gyrus	brain
45	chr22:29516600-29522000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr22:29516600-29531000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr22:29516800-29519400	Weak transcription	Fetal Intestine Small	intestine
48	chr22:29516800-29519600	Weak transcription	Fetal Stomach	stomach
49	chr22:29516800-29521000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr22:29516800-29521000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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