Variant report

Variant	rs56339342
Chromosome Location	chr11:18341613-18341614
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	EGR1	chr11:18341450-18341796	K562	blood:	n/a	chr11:18341605-18341619 chr11:18341608-18341617 chr11:18341604-18341619 chr11:18341607-18341617 chr11:18341605-18341618 chr11:18341605-18341618 chr11:18341606-18341617 chr11:18341605-18341618
2	GATA3	chr11:18341429-18341631	SH-SY5Y	brain:	n/a	n/a
3	IRF1	chr11:18341339-18342037	K562	blood:	n/a	chr11:18341674-18341694
4	EGR1	chr11:18341393-18341658	K562	blood:	n/a	chr11:18341605-18341619 chr11:18341608-18341617 chr11:18341604-18341619 chr11:18341607-18341617 chr11:18341605-18341618 chr11:18341605-18341618 chr11:18341606-18341617 chr11:18341605-18341618

No.	Distal block	Cell Line	Cell type
1	chr11:18270589..18272297-chr11:18340859..18342793,2	K562	blood:
2	chr11:18339772..18342486-chr11:18375558..18377297,2	K562	blood:
3	chr11:18340850..18343289-chr11:18360894..18362433,2	K562	blood:
4	chr11:18340646..18350403-chr11:18414573..18418572,22	K562	blood:
5	chr11:18336552..18338085-chr11:18340348..18343052,2	MCF-7	breast:
6	chr11:18328369..18330442-chr11:18341510..18343181,2	K562	blood:
7	chr11:18339644..18341634-chr11:18415922..18417632,2	MCF-7	breast:
8	chr11:18307340..18310591-chr11:18340181..18344104,5	MCF-7	breast:
9	chr11:18340586..18347042-chr11:18413380..18419628,16	K562	blood:

Variant related genes	Relation type
GTF2H1	TF binding region
ENSG00000110756	Chromatin interaction
ENSG00000134333	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12274017	0.87[AMR][1000 genomes];0.93[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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS 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	156 gene(s)	inside rSNPs	diseases
2	nsv428569	chr11:18194030-18350869	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18311800-18343000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:18317200-18342200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:18327800-18342200	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:18327800-18342200	Weak transcription	HUVEC	blood vessel
5	chr11:18331000-18342200	Weak transcription	Right Ventricle	heart
6	chr11:18332000-18341800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:18332200-18342200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:18332600-18342800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:18332600-18342800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:18332600-18343000	Weak transcription	Lung	lung
11	chr11:18332800-18341800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:18332800-18341800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr11:18332800-18342200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:18332800-18342200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:18332800-18342800	Weak transcription	Fetal Brain Male	brain
16	chr11:18333000-18341800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:18333000-18341800	Weak transcription	Thymus	Thymus
18	chr11:18333000-18342000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:18333000-18342000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:18333000-18342000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:18333000-18342200	Weak transcription	Adipose Nuclei	Adipose
22	chr11:18333000-18342400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:18333000-18342400	Weak transcription	Colonic Mucosa	Colon
24	chr11:18333000-18342800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr11:18333000-18342800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:18333200-18342200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:18334000-18341800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:18334400-18342800	Weak transcription	Fetal Thymus	thymus
29	chr11:18334400-18343000	Weak transcription	Esophagus	oesophagus
30	chr11:18334400-18343200	Weak transcription	Pancreas	Pancrea
31	chr11:18334600-18342200	Weak transcription	Brain Angular Gyrus	brain
32	chr11:18334600-18342200	Weak transcription	Brain Anterior Caudate	brain
33	chr11:18334600-18342200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:18334600-18342200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:18334800-18342000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:18334800-18342000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:18335000-18342000	Weak transcription	Brain Substantia Nigra	brain
38	chr11:18335000-18342000	Weak transcription	NHLF	lung
39	chr11:18335800-18342000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:18335800-18342200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:18335800-18342800	Weak transcription	Ovary	ovary
42	chr11:18336000-18341800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:18336400-18342800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:18336600-18342800	Weak transcription	Fetal Muscle Leg	muscle
45	chr11:18336800-18342000	Weak transcription	NH-A	brain
46	chr11:18337000-18343000	Weak transcription	Left Ventricle	heart
47	chr11:18337000-18343400	Weak transcription	Spleen	Spleen
48	chr11:18337600-18342000	Weak transcription	Aorta	Aorta
49	chr11:18337800-18342200	Weak transcription	Fetal Brain Female	brain
50	chr11:18337800-18343000	Weak transcription	Fetal Muscle Trunk	muscle

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