Variant report

Variant	rs134664
Chromosome Location	chr22:29494148-29494149
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	chr22:29492716..29496133-chr22:29496800..29499655,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12329960	0.85[AMR][1000 genomes]
rs134657	0.80[AMR][1000 genomes]
rs134660	0.80[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]

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
rs134664	KREMEN1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29475600-29505600	Weak transcription	Spleen	Spleen
2	chr22:29476800-29494800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:29478800-29498200	Weak transcription	Brain Germinal Matrix	brain
4	chr22:29480600-29498000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr22:29486600-29494800	Weak transcription	NHEK	skin
7	chr22:29486600-29519000	Weak transcription	Fetal Brain Male	brain
8	chr22:29488400-29521200	Weak transcription	Lung	lung
9	chr22:29488600-29494800	Weak transcription	Placenta	Placenta
10	chr22:29489000-29494800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:29489200-29494800	Weak transcription	Adipose Nuclei	Adipose
12	chr22:29489600-29499800	Strong transcription	Dnd41	blood
13	chr22:29490000-29501600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr22:29490000-29505200	Weak transcription	Aorta	Aorta
15	chr22:29490000-29514000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr22:29490200-29502800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr22:29490200-29503600	Weak transcription	HMEC	breast
18	chr22:29490400-29499000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:29490400-29501400	Weak transcription	Colon Smooth Muscle	Colon
20	chr22:29490400-29508000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
22	chr22:29490600-29495000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr22:29491200-29521200	Weak transcription	Colonic Mucosa	Colon
24	chr22:29491600-29495000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr22:29491600-29522200	Weak transcription	Liver	Liver
26	chr22:29491800-29494600	Weak transcription	Fetal Brain Female	brain
27	chr22:29491800-29494800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr22:29491800-29503600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr22:29491800-29504400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr22:29491800-29505400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr22:29492000-29494400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr22:29492000-29494400	Weak transcription	Fetal Thymus	thymus
33	chr22:29492000-29501000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr22:29492000-29503800	Weak transcription	NHDF-Ad	bronchial
35	chr22:29492200-29494600	Enhancers	Left Ventricle	heart
36	chr22:29492400-29494800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr22:29492400-29495000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr22:29492600-29494400	Weak transcription	Esophagus	oesophagus
39	chr22:29492800-29494800	Weak transcription	Thymus	Thymus
40	chr22:29493000-29494400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr22:29493000-29494400	Weak transcription	Right Atrium	heart
42	chr22:29493200-29494400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr22:29493200-29494600	Weak transcription	Fetal Lung	lung
44	chr22:29493200-29494800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr22:29493200-29494800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr22:29493200-29495000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr22:29493200-29498200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr22:29493200-29499000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr22:29493200-29501400	Weak transcription	Ovary	ovary
50	chr22:29493200-29501600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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