Variant report

Variant	rs2186956
Chromosome Location	chr11:74392839-74392840
allele	A/C/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	FOXA2	chr11:74392757-74393173	A549	lung:	n/a	n/a
2	FOXA2	chr11:74392837-74393156	A549	lung:	n/a	n/a
3	FOXA1	chr11:74392823-74393063	T-47D	breast:	n/a	chr11:74392988-74393003

No.	Distal block	Cell Line	Cell type
1	chr11:74392571..74394133-chr11:74394228..74395891,2	K562	blood:
2	chr11:74389665..74391851-chr11:74392581..74394726,3	MCF-7	breast:
3	chr11:74384288..74386885-chr11:74391965..74393932,2	K562	blood:
4	chr11:74390056..74393770-chr11:74396439..74399617,3	K562	blood:

Variant related genes	Relation type
RN7SKP297	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10793103	0.88[CEU][hapmap];0.89[CHB][hapmap];0.81[EUR][1000 genomes]
rs10899031	0.84[EUR][1000 genomes]
rs10899032	0.83[CEU][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10899033	0.84[CEU][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10899034	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs34238674	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7108105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7111585	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7119296	0.86[EUR][1000 genomes]

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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74372000-74393000	Weak transcription	Fetal Brain Female	brain
2	chr11:74381600-74394000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:74384400-74394200	Weak transcription	Lung	lung
4	chr11:74384800-74394200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:74385200-74393000	Weak transcription	Brain Anterior Caudate	brain
6	chr11:74385200-74393400	Weak transcription	Brain Angular Gyrus	brain
7	chr11:74385200-74394400	Weak transcription	NHDF-Ad	bronchial
8	chr11:74385400-74393000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:74387000-74393000	Enhancers	Fetal Muscle Leg	muscle
10	chr11:74390000-74395400	Weak transcription	HSMM	muscle
11	chr11:74390400-74393600	Weak transcription	Osteobl	bone
12	chr11:74390400-74394200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:74390400-74397800	Weak transcription	K562	blood
14	chr11:74390600-74393200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:74391200-74394200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:74392000-74393600	Enhancers	Gastric	stomach
17	chr11:74392200-74393000	Enhancers	Fetal Stomach	stomach
18	chr11:74392200-74393600	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr11:74392200-74394200	Enhancers	Colon Smooth Muscle	Colon
20	chr11:74392200-74394400	Enhancers	Pancreas	Pancrea
21	chr11:74392200-74395200	Enhancers	Fetal Heart	heart
22	chr11:74392400-74393200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr11:74392400-74394000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:74392400-74394000	Enhancers	A549	lung
25	chr11:74392400-74394200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:74392400-74394200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:74392400-74394200	Enhancers	Liver	Liver
28	chr11:74392400-74394200	Enhancers	Rectal Smooth Muscle	rectum
29	chr11:74392400-74394200	Enhancers	Right Ventricle	heart
30	chr11:74392400-74394400	Enhancers	Left Ventricle	heart
31	chr11:74392600-74393000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr11:74392600-74394000	Enhancers	Brain Hippocampus Middle	brain
33	chr11:74392600-74394200	Enhancers	Brain Cingulate Gyrus	brain
34	chr11:74392600-74394200	Enhancers	Psoas Muscle	Psoas
35	chr11:74392800-74393200	Enhancers	Ovary	ovary
36	chr11:74392800-74394200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:74392800-74394600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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