Variant report

Variant	rs10793102
Chromosome Location	chr11:74384837-74384838
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74382546..74386046-chr11:74386677..74389972,4	K562	blood:
2	chr11:74377887..74381044-chr11:74384052..74387335,4	K562	blood:
3	chr11:74383555..74386388-chr11:74394494..74397329,2	K562	blood:
4	chr11:74384288..74386885-chr11:74391965..74393932,2	K562	blood:
5	chr11:74354455..74356432-chr11:74382989..74385315,2	K562	blood:

Variant related genes	Relation type
ENSG00000223202	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10793095	0.85[CEU][hapmap]
rs10793104	0.84[MEX][hapmap]
rs10857	0.85[CEU][hapmap]
rs4944047	0.85[CEU][hapmap]
rs4944906	0.85[CEU][hapmap]
rs4944920	0.85[CEU][hapmap]
rs4944924	0.85[CEU][hapmap]
rs4944926	0.84[CEU][hapmap]
rs4944936	0.93[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6592579	0.85[CEU][hapmap]
rs6592581	0.83[CEU][hapmap]
rs7104675	0.81[ASN][1000 genomes]
rs7110993	0.85[CEU][hapmap]
rs7113533	0.85[CEU][hapmap]
rs7120069	0.92[CEU][hapmap]
rs7122810	0.85[CEU][hapmap]
rs7925341	0.83[CEU][hapmap]
rs7935057	0.85[CEU][hapmap]
rs7940591	0.89[ASN][1000 genomes]
rs7947345	0.85[CEU][hapmap]
rs9651762	0.85[CEU][hapmap]
rs9651763	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10793102	POLD3	cis	cerebellum	SCAN
rs10793102	WNT11	cis	parietal	SCAN
rs10793102	P4HA3	cis	cerebellum	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74369200-74385400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr11:74372000-74393000	Weak transcription	Fetal Brain Female	brain
3	chr11:74381400-74385600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:74381400-74386000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:74381600-74394000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:74382400-74385400	Enhancers	Fetal Muscle Leg	muscle
7	chr11:74382600-74385200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:74382600-74385200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:74382600-74385200	Enhancers	HSMMtube	muscle
10	chr11:74382600-74385200	Enhancers	NHDF-Ad	bronchial
11	chr11:74382600-74385400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:74382600-74385400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:74382600-74385400	Enhancers	NHLF	lung
14	chr11:74382800-74385000	Enhancers	Colon Smooth Muscle	Colon
15	chr11:74382800-74385000	Enhancers	Left Ventricle	heart
16	chr11:74382800-74385200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:74382800-74385200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr11:74382800-74385200	Enhancers	HMEC	breast
19	chr11:74382800-74385400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr11:74383000-74385200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:74383200-74385200	Flanking Active TSS	Hela-S3	cervix
22	chr11:74383400-74385000	Enhancers	Fetal Heart	heart
23	chr11:74383400-74385000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:74383400-74385200	Enhancers	Brain Angular Gyrus	brain
25	chr11:74383400-74385200	Enhancers	Brain Anterior Caudate	brain
26	chr11:74383400-74385200	Enhancers	Brain Germinal Matrix	brain
27	chr11:74383400-74385400	Enhancers	Brain Substantia Nigra	brain
28	chr11:74383400-74385400	Enhancers	Fetal Stomach	stomach
29	chr11:74383400-74385400	Enhancers	Rectal Smooth Muscle	rectum
30	chr11:74383600-74385200	Enhancers	Brain Cingulate Gyrus	brain
31	chr11:74383600-74385200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr11:74384000-74387600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:74384200-74385000	Flanking Active TSS	Osteobl	bone
34	chr11:74384200-74385200	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr11:74384200-74392400	Weak transcription	Right Ventricle	heart
36	chr11:74384400-74385000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr11:74384400-74385200	Flanking Active TSS	A549	lung
38	chr11:74384400-74392600	Weak transcription	Psoas Muscle	Psoas
39	chr11:74384400-74394200	Weak transcription	Lung	lung
40	chr11:74384600-74385000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:74384600-74385000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
42	chr11:74384600-74385000	Enhancers	Stomach Mucosa	stomach
43	chr11:74384600-74387600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr11:74384800-74385000	Flanking Active TSS	K562	blood
45	chr11:74384800-74385200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:74384800-74385400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:74384800-74385400	Enhancers	Stomach Smooth Muscle	stomach
48	chr11:74384800-74385400	Enhancers	HSMM	muscle
49	chr11:74384800-74385400	Enhancers	NH-A	brain
50	chr11:74384800-74387600	Weak transcription	Ovary	ovary

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