Variant report

Variant	rs16896856
Chromosome Location	chr8:99312920-99312921
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99302730..99307131-chr8:99308409..99313645,6	K562	blood:
2	chr8:99312344..99314652-chr8:99343314..99345193,2	MCF-7	breast:
3	chr8:99174807..99177067-chr8:99310705..99313318,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104361	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56110415	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010064	1.00[JPT][hapmap]
rs72664850	1.00[ASN][1000 genomes]
rs7461545	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7819047	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7819152	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7831149	1.00[JPT][hapmap]
rs7836665	1.00[ASN][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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16896856	NPAL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99306800-99317000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:99306800-99317200	Weak transcription	Esophagus	oesophagus
3	chr8:99309800-99315000	Weak transcription	Right Atrium	heart
4	chr8:99310000-99316800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr8:99310200-99324200	Weak transcription	Fetal Heart	heart
6	chr8:99310400-99315200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:99310400-99317200	Weak transcription	Osteobl	bone
8	chr8:99310800-99317200	Weak transcription	HepG2	liver
9	chr8:99311400-99316000	Enhancers	Fetal Intestine Small	intestine
10	chr8:99311600-99314200	Enhancers	Primary B cells from peripheral blood	blood
11	chr8:99311800-99313400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:99311800-99313400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr8:99311800-99316000	Enhancers	Fetal Intestine Large	intestine
14	chr8:99312400-99313000	Enhancers	Stomach Mucosa	stomach
15	chr8:99312400-99313200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr8:99312400-99313400	Enhancers	Gastric	stomach
17	chr8:99312400-99314000	Enhancers	Primary B cells from cord blood	blood
18	chr8:99312400-99314000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:99312400-99314000	Enhancers	Duodenum Mucosa	Duodenum
20	chr8:99312400-99316200	Enhancers	K562	blood
21	chr8:99312600-99313000	Enhancers	Primary hematopoietic stem cells	blood
22	chr8:99312600-99313000	Enhancers	Pancreas	Pancrea
23	chr8:99312600-99313000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr8:99312600-99313400	Enhancers	Spleen	Spleen
25	chr8:99312600-99313800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr8:99312600-99313800	Enhancers	GM12878-XiMat	blood
27	chr8:99312600-99314000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:99312800-99313000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr8:99312800-99313000	Enhancers	Ovary	ovary
30	chr8:99312800-99313000	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr8:99312800-99313400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:99312800-99313600	Enhancers	Monocytes-CD14+_RO01746	blood

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