Variant report

Variant	rs11881242
Chromosome Location	chr19:36283847-36283848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36278394..36281474-chr19:36283077..36286266,3	K562	blood:
2	chr19:36273138..36275777-chr19:36283531..36286401,2	K562	blood:
3	chr19:36277506..36280414-chr19:36281962..36284399,2	MCF-7	breast:
4	chr19:36281922..36284549-chr19:36300650..36302438,2	K562	blood:
5	chr19:36278394..36281152-chr19:36283077..36286446,4	K562	blood:

Variant related genes	Relation type
ENSG00000004777	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11546662	0.87[EUR][1000 genomes]
rs11546665	0.87[EUR][1000 genomes]
rs2267586	0.82[TSI][hapmap]
rs35297478	0.94[EUR][1000 genomes]
rs55955981	0.94[EUR][1000 genomes]
rs56237993	0.92[EUR][1000 genomes]
rs56813196	0.93[EUR][1000 genomes]
rs73592448	0.87[EUR][1000 genomes]
rs73592461	0.87[EUR][1000 genomes]
rs73592484	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
5	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
6	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
7	nsv911635	chr19:36217333-36283847	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv458567	chr19:36221051-36283847	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
9	nsv579423	chr19:36221051-36283847	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv911636	chr19:36240960-36290977	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv911637	chr19:36261928-36309321	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
13	esv3446624	chr19:36282645-36318788	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11881242	TEX101	cis	parietal	SCAN
rs11881242	DPF1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36267800-36284200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr19:36268400-36284200	Weak transcription	K562	blood
3	chr19:36273200-36284200	Weak transcription	Osteobl	bone
4	chr19:36273600-36288000	Weak transcription	Brain Angular Gyrus	brain
5	chr19:36273800-36284000	Weak transcription	Esophagus	oesophagus
6	chr19:36274000-36284000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:36274200-36284000	Weak transcription	Brain Anterior Caudate	brain
8	chr19:36274600-36284000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr19:36277200-36284400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:36277400-36288200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:36277600-36284800	Weak transcription	Gastric	stomach
12	chr19:36278400-36288000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr19:36278400-36294400	Weak transcription	Spleen	Spleen
14	chr19:36278600-36284000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:36278600-36284200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr19:36278600-36284200	Weak transcription	NHLF	lung
17	chr19:36278600-36284600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:36279000-36285000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr19:36279200-36284800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:36279200-36285000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr19:36279400-36285800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:36281000-36285600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr19:36281200-36287200	Weak transcription	Fetal Brain Female	brain
24	chr19:36281200-36287600	Weak transcription	Brain Germinal Matrix	brain
25	chr19:36282200-36284200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:36282400-36284200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:36282600-36284800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr19:36282600-36285200	Enhancers	Stomach Mucosa	stomach
29	chr19:36282800-36284000	Weak transcription	HepG2	liver
30	chr19:36283400-36303000	Weak transcription	Pancreas	Pancrea
31	chr19:36283800-36284000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:36283800-36284000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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