Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30998699..31001313-chr22:31003661..31005659,2	K562	blood:
2	chr22:30934256..30936381-chr22:31000054..31002763,2	K562	blood:

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11912471	1.00[EUR][1000 genomes]
rs16988643	1.00[CEU][hapmap]
rs2072197	0.81[YRI][hapmap]
rs35032582	1.00[EUR][1000 genomes]
rs35838082	0.92[AFR][1000 genomes]
rs57114503	1.00[EUR][1000 genomes]
rs72558390	1.00[EUR][1000 genomes]
rs7286107	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73396364	1.00[EUR][1000 genomes]
rs73398315	1.00[EUR][1000 genomes]
rs73881489	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8141486	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8137501	TCN2	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30988000-31001400	Weak transcription	Lung	lung
2	chr22:30988600-31001400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr22:30988600-31001400	Weak transcription	Right Atrium	heart
4	chr22:30988600-31001400	Weak transcription	HUVEC	blood vessel
5	chr22:30993200-31002800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:30995200-31001400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:30997000-31001600	Weak transcription	NH-A	brain
8	chr22:30998200-31001200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr22:30998400-31001600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr22:30998800-31001600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr22:30999200-31001400	Weak transcription	Fetal Intestine Small	intestine
12	chr22:30999800-31001400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr22:31000000-31000600	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr22:31000000-31000600	Enhancers	Stomach Mucosa	stomach
15	chr22:31000000-31001200	Enhancers	K562	blood
16	chr22:31000200-31000400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr22:31000200-31000800	Weak transcription	Ovary	ovary
18	chr22:31000200-31001200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr22:31000200-31001400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr22:31000200-31001400	Enhancers	Adipose Nuclei	Adipose
21	chr22:31000200-31001400	Weak transcription	HepG2	liver

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