Variant report

Variant	rs134600
Chromosome Location	chr22:29472884-29472885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29467730..29470328-chr22:29471275..29475318,5	MCF-7	breast:
2	chr22:29191243..29192935-chr22:29470969..29473140,2	MCF-7	breast:
3	chr22:29467048..29472637-chr22:29472832..29480427,12	K562	blood:
4	chr22:29467955..29472236-chr22:29472275..29474803,7	K562	blood:

Variant related genes	Relation type
ENSG00000183762	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs134561	0.94[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134567	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs134569	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs134579	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs134594	1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134601	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134602	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134603	0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134604	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134605	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134607	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134609	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134613	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs134619	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134620	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134621	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134623	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134624	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134625	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134626	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134629	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134630	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134632	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134635	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134637	1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134638	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134639	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134645	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs20037	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2049939	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5762980	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs783	1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs134600	KREMEN1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29469800-29474200	Weak transcription	K562	blood
2	chr22:29470000-29474000	Weak transcription	HSMMtube	muscle
3	chr22:29470000-29477600	Weak transcription	Aorta	Aorta
4	chr22:29470400-29474800	Weak transcription	Lung	lung
5	chr22:29470400-29474800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr22:29470400-29475000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr22:29470400-29475400	Weak transcription	Brain Angular Gyrus	brain
8	chr22:29470400-29476400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr22:29470400-29485800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr22:29470600-29474000	Weak transcription	Spleen	Spleen
11	chr22:29470600-29474400	Weak transcription	Brain Hippocampus Middle	brain
12	chr22:29470600-29474800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr22:29470600-29474800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr22:29470600-29474800	Weak transcription	Left Ventricle	heart
15	chr22:29470600-29474800	Weak transcription	Stomach Mucosa	stomach
16	chr22:29470600-29475000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr22:29470600-29475000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr22:29470600-29475200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr22:29470600-29475200	Weak transcription	Adipose Nuclei	Adipose
20	chr22:29470600-29475200	Weak transcription	Colon Smooth Muscle	Colon
21	chr22:29470600-29475400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr22:29470600-29476200	Weak transcription	Psoas Muscle	Psoas
23	chr22:29470600-29478400	Weak transcription	Gastric	stomach
24	chr22:29470600-29478400	Weak transcription	Pancreas	Pancrea
25	chr22:29470800-29474800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:29470800-29474800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr22:29470800-29475000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr22:29470800-29475200	Weak transcription	Fetal Stomach	stomach
29	chr22:29470800-29475400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr22:29470800-29475600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr22:29470800-29476200	Weak transcription	Liver	Liver
32	chr22:29471000-29474800	Weak transcription	Fetal Brain Male	brain
33	chr22:29471000-29474800	Weak transcription	Placenta	Placenta
34	chr22:29471000-29476200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr22:29471200-29473200	Weak transcription	Brain Germinal Matrix	brain
36	chr22:29471200-29473200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr22:29471200-29474000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr22:29471200-29474800	Weak transcription	Brain Substantia Nigra	brain
39	chr22:29471200-29476200	Weak transcription	Brain Anterior Caudate	brain
40	chr22:29471400-29473200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr22:29471400-29474000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr22:29471400-29474000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr22:29471400-29474200	Weak transcription	Fetal Brain Female	brain
44	chr22:29471400-29474600	Weak transcription	Colonic Mucosa	Colon
45	chr22:29471400-29474800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr22:29471400-29474800	Weak transcription	Fetal Kidney	kidney
47	chr22:29471400-29474800	Weak transcription	Ovary	ovary
48	chr22:29471400-29474800	Weak transcription	Right Atrium	heart
49	chr22:29471400-29476000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:29471400-29476200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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