Variant report

Variant	rs2374705
Chromosome Location	chr11:85908313-85908314
allele	A/C
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	IRF1	chr11:85907037-85908980	K562	blood:	n/a	n/a
2	RFX5	chr11:85907994-85908892	K562	blood:	n/a	n/a
3	GATA1	chr11:85907394-85909524	PBDE	blood:	n/a	chr11:85908503-85908513 chr11:85907557-85907573
4	TBL1XR1	chr11:85907184-85908948	K562	blood:	n/a	n/a
5	EP300	chr11:85907179-85908919	K562	blood:	n/a	chr11:85907523-85907537 chr11:85908441-85908450 chr11:85907260-85907270 chr11:85908311-85908318 chr11:85907282-85907291
6	CEBPB	chr11:85907911-85908953	K562	blood:	n/a	chr11:85908094-85908107
7	MAFF	chr11:85908019-85908894	K562	blood:	n/a	chr11:85908717-85908735
8	ARID3A	chr11:85907402-85908387	K562	blood:	n/a	n/a
9	MYC	chr11:85907933-85908777	K562	blood:	n/a	n/a
10	JUN	chr11:85907574-85909075	K562	blood:	n/a	n/a
11	JUND	chr11:85907126-85908878	K562	blood:	n/a	chr11:85907282-85907291 chr11:85907282-85907289
12	RCOR1	chr11:85907188-85908858	K562	blood:	n/a	n/a
13	IRF1	chr11:85907928-85908897	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:85902463..85904724-chr11:85908007..85910447,3	K562	blood:
2	chr11:85908094..85909994-chr11:85921014..85923973,2	K562	blood:
3	chr11:85894603..85896311-chr11:85907931..85910681,2	K562	blood:

Variant related genes	Relation type
ENSG00000254699	TF binding region
ENSG00000254699	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10751136	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10792838	0.92[EUR][1000 genomes]
rs11234575	0.91[EUR][1000 genomes]
rs12799380	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs2513202	0.80[CHB][hapmap]
rs291243	0.80[CHB][hapmap]
rs3851182	0.96[YRI][hapmap]
rs7122535	0.92[EUR][1000 genomes]
rs7123014	0.91[EUR][1000 genomes]
rs7946024	0.84[EUR][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	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2374705	C11orf73	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85898400-85913400	Weak transcription	Left Ventricle	heart
2	chr11:85902000-85908800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:85904400-85913200	Weak transcription	Fetal Intestine Small	intestine
4	chr11:85905000-85912400	Weak transcription	HSMM	muscle
5	chr11:85905000-85913200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:85905000-85913200	Weak transcription	Placenta	Placenta
7	chr11:85905000-85913200	Weak transcription	Fetal Stomach	stomach
8	chr11:85905200-85908400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:85905200-85910800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:85905200-85913200	Weak transcription	Stomach Mucosa	stomach
11	chr11:85905800-85911200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:85905800-85913200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:85906600-85908800	Enhancers	Brain Substantia Nigra	brain
14	chr11:85906600-85909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:85907000-85908600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:85907000-85908800	Enhancers	NHEK	skin
17	chr11:85907000-85909000	Flanking Active TSS	K562	blood
18	chr11:85907000-85909600	Enhancers	Brain Hippocampus Middle	brain
19	chr11:85907200-85908400	Enhancers	Osteobl	bone
20	chr11:85907200-85908600	Enhancers	Brain Angular Gyrus	brain
21	chr11:85907200-85909400	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr11:85907200-85909600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr11:85907200-85909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:85907400-85908400	Enhancers	Ovary	ovary
25	chr11:85907400-85908600	Enhancers	Small Intestine	intestine
26	chr11:85907400-85909000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:85907400-85910800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:85907600-85908800	Enhancers	Brain Anterior Caudate	brain
29	chr11:85907800-85911400	Weak transcription	Spleen	Spleen
30	chr11:85907800-85912400	Weak transcription	Fetal Kidney	kidney
31	chr11:85908000-85908400	Enhancers	Stomach Smooth Muscle	stomach
32	chr11:85908000-85908600	Enhancers	Adipose Nuclei	Adipose
33	chr11:85908000-85909000	Enhancers	Primary hematopoietic stem cells	blood
34	chr11:85908000-85909400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr11:85908000-85913400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr11:85908200-85908800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:85908200-85908800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:85908200-85910400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:85908200-85910800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:85908200-85911200	Enhancers	Hela-S3	cervix
41	chr11:85908200-85912400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr11:85908200-85913200	Weak transcription	Fetal Lung	lung

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