Variant report

Variant	rs11997273
Chromosome Location	chr8:110309382-110309383
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr8:110308988-110309472	GM12878	blood:	n/a	n/a
2	RUNX3	chr8:110309089-110309482	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110302918..110306043-chr8:110308192..110310489,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250267	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11985483	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11990328	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11997627	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11998117	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16879252	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs16879260	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs16879306	0.93[ASW][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs16879659	1.00[MEX][hapmap]
rs16918465	1.00[MEX][hapmap]
rs6469251	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6992830	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6993440	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7008315	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7018461	0.85[ASW][hapmap]
rs7813597	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7820368	0.80[AMR][1000 genomes]
rs7825760	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7842107	0.84[AFR][1000 genomes];0.80[AMR][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	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv891275	chr8:110224047-110319234	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv891279	chr8:110268104-110450092	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11997273	NUDCD1	cis	lymphoblastoid	seeQTL
rs11997273	CML66	cis	multi-tissue	Pritchard
rs11997273	NUDCD1	cis	multi-tissue	Pritchard

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110211200-110311600	Weak transcription	Right Ventricle	heart
2	chr8:110236600-110344200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:110238000-110311600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:110247000-110311400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:110258400-110311200	Weak transcription	Lung	lung
6	chr8:110278200-110311200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:110284400-110344400	Weak transcription	Fetal Lung	lung
8	chr8:110285600-110311400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:110286400-110311400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:110288200-110311800	Weak transcription	K562	blood
11	chr8:110288600-110344200	Weak transcription	Ovary	ovary
12	chr8:110289200-110311200	Weak transcription	Gastric	stomach
13	chr8:110292000-110333200	Weak transcription	HepG2	liver
14	chr8:110292800-110311400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:110293000-110343600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:110294200-110311000	Weak transcription	Fetal Intestine Small	intestine
17	chr8:110294200-110311600	Weak transcription	HSMM	muscle
18	chr8:110294600-110311200	Weak transcription	Esophagus	oesophagus
19	chr8:110294600-110314600	Weak transcription	Pancreas	Pancrea
20	chr8:110296000-110311400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:110296200-110310400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:110296800-110311200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr8:110297800-110311400	Weak transcription	Small Intestine	intestine
24	chr8:110300000-110310000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr8:110300000-110311000	Weak transcription	Fetal Intestine Large	intestine
26	chr8:110300000-110311200	Weak transcription	Adipose Nuclei	Adipose
27	chr8:110300000-110311400	Weak transcription	Left Ventricle	heart
28	chr8:110302600-110312000	Weak transcription	Placenta	Placenta
29	chr8:110303000-110313200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:110304600-110313200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:110305200-110318200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:110305600-110317800	Weak transcription	Osteobl	bone
33	chr8:110305600-110318200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:110305800-110310800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:110305800-110311000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr8:110305800-110311400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:110306000-110309800	Weak transcription	Primary T cells from cord blood	blood
38	chr8:110306200-110310600	Weak transcription	A549	lung
39	chr8:110306200-110312200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr8:110306200-110314000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:110306200-110316600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:110306400-110312400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr8:110306600-110324800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr8:110306800-110311200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr8:110307200-110310200	Weak transcription	HUVEC	blood vessel
46	chr8:110307200-110311600	Weak transcription	Psoas Muscle	Psoas
47	chr8:110307200-110311600	Weak transcription	NHEK	skin
48	chr8:110307200-110311800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:110307200-110314000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:110307400-110311400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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