Variant report

Variant	rs694844
Chromosome Location	chr11:75295368-75295369
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75279889..75285292-chr11:75289695..75295814,8	K562	blood:
2	chr11:75110425..75112120-chr11:75294136..75297612,3	K562	blood:

Variant related genes	Relation type
ENSG00000206941	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000149257	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1228367	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1793395	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs544997	0.80[JPT][hapmap]
rs585433	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs588955	0.92[CEU][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs589063	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs599816	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs617449	0.92[JPT][hapmap]
rs636418	0.88[CEU][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs650766	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]

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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs694844	CTD-2530H12.4	cis	Artery Tibial	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75293600-75295800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:75293600-75295800	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr11:75293800-75295400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:75293800-75295400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr11:75293800-75295400	Active TSS	Ovary	ovary
6	chr11:75293800-75295600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr11:75293800-75295600	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr11:75293800-75295600	Active TSS	HSMMtube	muscle
9	chr11:75293800-75295600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr11:75294000-75295400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr11:75294000-75295400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:75294000-75295400	Active TSS	Colon Smooth Muscle	Colon
13	chr11:75294000-75295400	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr11:75294000-75295600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:75294000-75295800	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr11:75294200-75295400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr11:75294200-75295400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:75294200-75295400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr11:75294200-75295400	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr11:75294200-75295400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:75294200-75295400	Active TSS	Placenta Amnion	Placenta Amnion
22	chr11:75294200-75295400	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr11:75294200-75295400	Active TSS	K562	blood
24	chr11:75294200-75295400	Active TSS	NHLF	lung
25	chr11:75294200-75295600	Enhancers	Fetal Brain Male	brain
26	chr11:75294200-75296200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:75294400-75295400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:75294400-75295400	Active TSS	HSMM	muscle
29	chr11:75294400-75295400	Active TSS	NH-A	brain
30	chr11:75294400-75296600	Enhancers	Spleen	Spleen
31	chr11:75294600-75295400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr11:75294600-75295600	Flanking Active TSS	Colonic Mucosa	Colon
33	chr11:75294600-75303400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:75294800-75295400	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr11:75294800-75295400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:75294800-75295400	Flanking Active TSS	Fetal Thymus	thymus
37	chr11:75294800-75295400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr11:75294800-75295600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:75294800-75295600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:75294800-75295600	Flanking Active TSS	Dnd41	blood
41	chr11:75295000-75295400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:75295000-75295400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:75295000-75295400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr11:75295000-75295400	Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr11:75295000-75295400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:75295000-75295400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:75295000-75295400	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr11:75295000-75295400	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr11:75295000-75295400	Flanking Active TSS	Lung	lung
50	chr11:75295000-75295400	Flanking Active TSS	NHDF-Ad	bronchial

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