Variant report

Variant	rs28478615
Chromosome Location	chr7:104532206-104532207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104530363..104532505-chr7:104533626..104535586,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10226456	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10235696	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10236552	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10237433	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238498	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10247944	0.92[ASN][1000 genomes]
rs10253341	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10257360	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10266362	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10273609	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10274240	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10280365	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10281485	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10953457	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12534673	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12537945	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12670275	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12672211	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13225632	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2285533	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28546781	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28587189	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34083033	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34171467	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35756879	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35894637	0.82[ASN][1000 genomes]
rs35988800	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6949139	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968540	0.80[ASN][1000 genomes]
rs7779117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv981792	chr7:104524351-104538104	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104524800-104534600	Weak transcription	Fetal Kidney	kidney
2	chr7:104524800-104535200	Weak transcription	Colonic Mucosa	Colon
3	chr7:104524800-104540800	Weak transcription	Brain Anterior Caudate	brain
4	chr7:104525400-104534600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:104525400-104540400	Weak transcription	Brain Substantia Nigra	brain
6	chr7:104525600-104534400	Strong transcription	Fetal Intestine Small	intestine
7	chr7:104527800-104539600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:104530400-104532400	Strong transcription	Fetal Intestine Large	intestine
9	chr7:104530800-104532800	Strong transcription	Duodenum Mucosa	Duodenum
10	chr7:104531400-104541800	Weak transcription	Pancreas	Pancrea
11	chr7:104531400-104542000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:104531800-104532400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr7:104531800-104532800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:104532000-104532600	Flanking Active TSS	GM12878-XiMat	blood
15	chr7:104532000-104532800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:104532000-104532800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:104532200-104532600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr7:104532200-104532600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:104532200-104532600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:104532200-104532800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:104532200-104533000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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