Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50540382..50543888-chr7:50545544..50548848,3	K562	blood:

Variant related genes	Relation type
ENSG00000132437	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10228056	1.00[CEU][hapmap]
rs1037351	0.82[JPT][hapmap]
rs11575383	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11575387	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11575388	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap]
rs11575450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11763051	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11771860	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17133853	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs17133881	1.00[CEU][hapmap]
rs17152014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2167363	1.00[CHB][hapmap]
rs2167364	0.82[JPT][hapmap]
rs2329364	1.00[CEU][hapmap]
rs35929700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3779084	0.90[JPT][hapmap]
rs4245549	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4947631	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6951648	0.90[JPT][hapmap]
rs7791875	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7792486	0.81[GIH][hapmap]
rs880028	0.90[JPT][hapmap]

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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17133842	ZNFN1A1	cis	multi-tissue	Pritchard
rs17133842	IKZF1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50535800-50546800	Weak transcription	Pancreas	Pancrea
2	chr7:50535800-50553200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:50536000-50542800	Weak transcription	Colonic Mucosa	Colon
4	chr7:50536200-50545400	Weak transcription	Right Atrium	heart
5	chr7:50536600-50543000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:50540600-50542800	Enhancers	Stomach Smooth Muscle	stomach
7	chr7:50540800-50543400	Strong transcription	Duodenum Mucosa	Duodenum
8	chr7:50540800-50543400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr7:50540800-50543400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr7:50541400-50542800	Enhancers	Colon Smooth Muscle	Colon
11	chr7:50541600-50542600	Enhancers	Placenta	Placenta
12	chr7:50541600-50543200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:50541800-50543600	Enhancers	Liver	Liver
14	chr7:50541800-50543800	Weak transcription	Fetal Intestine Large	intestine
15	chr7:50542000-50543000	Enhancers	Adipose Nuclei	Adipose
16	chr7:50542000-50543400	Enhancers	Spleen	Spleen
17	chr7:50542000-50549600	Weak transcription	Stomach Mucosa	stomach
18	chr7:50542200-50542800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:50542200-50543400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:50542200-50545000	Weak transcription	HepG2	liver
21	chr7:50542200-50546000	Genic enhancers	Fetal Intestine Small	intestine

Quick Search: