Variant report

Variant	rs56235379
Chromosome Location	chr11:9737755-9737756
allele	A/G
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	FOXM1	chr11:9737657-9738804	GM12878	blood:	n/a	n/a
2	MTA3	chr11:9737247-9738898	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:9737228-9738850	GM12892	blood:	n/a	n/a
4	RELA	chr11:9737416-9738706	GM10847	blood:	n/a	n/a
5	RELA	chr11:9737345-9738704	GM12891	blood:	n/a	n/a
6	POLR2A	chr11:9737727-9738955	HUVEC	blood vessel:	n/a	n/a
7	RELA	chr11:9737412-9738687	GM19099	blood:	n/a	n/a
8	SPI1	chr11:9737736-9739030	GM12878	blood:	n/a	chr11:9738732-9738741
9	NFIC	chr11:9737676-9738870	GM12878	blood:	n/a	n/a
10	RELA	chr11:9737452-9738719	GM19193	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9601830..9604775-chr11:9735328..9738151,2	K562	blood:

Variant related genes	Relation type
SWAP70	TF binding region
ENSG00000166483	Chromatin interaction
ENSG00000243869	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12419471	0.86[AFR][1000 genomes]
rs61876865	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878123	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1045550	chr11:9718324-9790088	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9710200-9758400	Weak transcription	Psoas Muscle	Psoas
2	chr11:9711400-9754400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:9716000-9738000	Weak transcription	HMEC	breast
4	chr11:9717600-9738800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:9717600-9739200	Weak transcription	NHLF	lung
6	chr11:9717600-9751000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:9717600-9751000	Weak transcription	Ovary	ovary
8	chr11:9718200-9749600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:9724000-9739400	Weak transcription	Fetal Lung	lung
10	chr11:9725200-9738200	Weak transcription	Fetal Thymus	thymus
11	chr11:9725200-9740800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:9725200-9749600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr11:9725400-9741800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:9725600-9748000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:9726600-9749600	Weak transcription	Liver	Liver
16	chr11:9729600-9755400	Genic enhancers	Primary B cells from peripheral blood	blood
17	chr11:9730400-9737800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:9730400-9739400	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:9730600-9738000	Weak transcription	NH-A	brain
20	chr11:9730600-9738200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:9730600-9739400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:9730600-9739400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:9730600-9739400	Weak transcription	Small Intestine	intestine
24	chr11:9730600-9747200	Weak transcription	Pancreas	Pancrea
25	chr11:9730600-9758200	Weak transcription	Esophagus	oesophagus
26	chr11:9730800-9738000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:9730800-9738200	Weak transcription	Lung	lung
28	chr11:9730800-9738200	Weak transcription	HSMMtube	muscle
29	chr11:9731200-9740800	Weak transcription	Brain Substantia Nigra	brain
30	chr11:9732000-9754000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr11:9733200-9738800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:9733200-9743800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:9733200-9754000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:9733400-9739000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:9733400-9739400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:9733400-9749400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr11:9733400-9754200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr11:9733600-9738000	Weak transcription	Aorta	Aorta
39	chr11:9733600-9738200	Weak transcription	Right Atrium	heart
40	chr11:9733600-9739400	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:9733600-9739400	Weak transcription	Fetal Kidney	kidney
42	chr11:9733600-9741600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr11:9733600-9757000	Weak transcription	Fetal Brain Female	brain
44	chr11:9733600-9761600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:9733800-9739600	Weak transcription	Brain Angular Gyrus	brain
46	chr11:9733800-9743800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr11:9733800-9759800	Weak transcription	Fetal Heart	heart
48	chr11:9734600-9738200	Strong transcription	HSMM	muscle
49	chr11:9734800-9737800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:9734800-9738200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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