Variant report

Variant	rs11993219
Chromosome Location	chr8:92085986-92085987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91992188..91994293-chr8:92084986..92087626,2	K562	blood:
2	chr8:92047814..92049804-chr8:92084562..92087009,2	K562	blood:
3	chr8:91992188..91994461-chr8:92084904..92087626,3	K562	blood:
4	chr8:91996381..92003775-chr8:92079147..92086022,11	K562	blood:
5	chr8:92048304..92050215-chr8:92085509..92087518,2	K562	blood:

Variant related genes	Relation type
ENSG00000253250	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11989356	0.83[AMR][1000 genomes]
rs28489455	0.89[AFR][1000 genomes]
rs56035719	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56854299	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59362647	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61515687	0.89[AFR][1000 genomes]
rs73694359	0.89[AFR][1000 genomes]
rs73694360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694368	0.84[AFR][1000 genomes]
rs73694369	0.86[AFR][1000 genomes]
rs73694375	0.84[AFR][1000 genomes]
rs73694376	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694377	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694384	0.93[AFR][1000 genomes]
rs73694386	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694387	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694389	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73697108	0.89[AFR][1000 genomes]
rs73697109	0.89[AFR][1000 genomes]
rs73697110	0.89[AFR][1000 genomes]
rs73697112	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73697114	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831390	chr8:92037011-92198605	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11993219	NECAB1	cis	lymphoblastoid	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92083000-92147800	Weak transcription	Spleen	Spleen
2	chr8:92083200-92094600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:92083200-92095600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:92083200-92113200	Weak transcription	Esophagus	oesophagus
5	chr8:92083400-92088400	Weak transcription	Stomach Mucosa	stomach
6	chr8:92083400-92090400	Weak transcription	Ovary	ovary
7	chr8:92083400-92091000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:92083400-92094600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:92083400-92103600	Weak transcription	Aorta	Aorta
10	chr8:92083400-92103600	Weak transcription	Lung	lung
11	chr8:92083400-92124400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:92083600-92086200	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:92083600-92088800	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:92083600-92089000	Weak transcription	Fetal Lung	lung
15	chr8:92083600-92090200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:92083600-92090400	Weak transcription	Brain Angular Gyrus	brain
17	chr8:92083600-92090400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:92083600-92090400	Weak transcription	HSMMtube	muscle
19	chr8:92083600-92090600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:92083600-92091600	Weak transcription	Right Ventricle	heart
21	chr8:92083600-92092400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:92083600-92093600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr8:92083600-92094600	Weak transcription	Fetal Intestine Small	intestine
24	chr8:92083600-92094600	Weak transcription	Fetal Stomach	stomach
25	chr8:92083600-92103600	Weak transcription	Gastric	stomach
26	chr8:92083600-92109800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:92083600-92112000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:92083600-92113000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr8:92083600-92114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr8:92083600-92150800	Weak transcription	Pancreas	Pancrea
31	chr8:92083800-92086600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:92083800-92088400	Weak transcription	NHLF	lung
33	chr8:92083800-92090600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr8:92083800-92094400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr8:92083800-92103400	Weak transcription	Colonic Mucosa	Colon
36	chr8:92084000-92086600	Strong transcription	Brain Anterior Caudate	brain
37	chr8:92084000-92086600	Strong transcription	Fetal Thymus	thymus
38	chr8:92084000-92086800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:92084000-92087000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:92084000-92087200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:92084000-92087400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:92084000-92089800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:92084000-92090600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr8:92084000-92091800	Weak transcription	Psoas Muscle	Psoas
45	chr8:92084000-92093600	Strong transcription	Placenta	Placenta
46	chr8:92084000-92097400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr8:92084000-92097800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr8:92084000-92098600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:92084000-92103600	Strong transcription	HSMM	muscle
50	chr8:92084000-92104000	Weak transcription	Thymus	Thymus

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