Variant report

Variant	rs3008893
Chromosome Location	chr1:67376470-67376471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67376441..67378103-chr1:67389443..67391844,2	K562	blood:
2	chr1:67374136..67376779-chr1:67384902..67386423,2	K562	blood:
3	chr1:67374324..67377212-chr1:67396474..67398489,3	K562	blood:
4	chr1:67366082..67368708-chr1:67375984..67378961,2	K562	blood:
5	chr1:67372987..67375149-chr1:67375633..67379902,4	K562	blood:
6	chr1:67369227..67371783-chr1:67374860..67376638,2	K562	blood:

Variant related genes	Relation type
ENSG00000152763	Chromatin interaction
ENSG00000198160	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11799699	1.00[ASN][1000 genomes]
rs11802888	1.00[ASN][1000 genomes]
rs11803444	1.00[ASN][1000 genomes]
rs11806284	1.00[ASN][1000 genomes]
rs11810931	1.00[ASN][1000 genomes]
rs11810986	1.00[ASN][1000 genomes]
rs17129533	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129539	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129572	1.00[ASN][1000 genomes]
rs1983860	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985796	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2985823	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008872	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008887	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008889	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008891	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41286730	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57585878	1.00[ASN][1000 genomes]
rs61587608	1.00[ASN][1000 genomes]
rs66478764	1.00[ASN][1000 genomes]
rs66594421	1.00[ASN][1000 genomes]
rs66643151	1.00[ASN][1000 genomes]
rs66773274	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66979028	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67219200	1.00[ASN][1000 genomes]
rs67262874	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67563312	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67835314	1.00[ASN][1000 genomes]
rs72671702	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673722	1.00[ASN][1000 genomes]
rs72926093	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72927953	1.00[ASN][1000 genomes]
rs7528485	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv871720	chr1:67357596-67435161	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv947266	chr1:67358868-67399427	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3448405	chr1:67360980-67393830	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67348400-67389000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:67349400-67389600	Weak transcription	Aorta	Aorta
3	chr1:67352800-67385600	Weak transcription	Ovary	ovary
4	chr1:67359400-67389600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:67364000-67382000	Weak transcription	Fetal Intestine Small	intestine
6	chr1:67364000-67385800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:67364000-67389000	Weak transcription	Osteobl	bone
8	chr1:67364800-67388800	Weak transcription	NHDF-Ad	bronchial
9	chr1:67365000-67383200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:67366600-67389000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:67367800-67385400	Weak transcription	Fetal Stomach	stomach
12	chr1:67369600-67385600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:67374800-67377000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:67376400-67377200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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