Variant report

Variant	rs6743347
Chromosome Location	chr2:100920560-100920561
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100920038..100923906-chr2:100937053..100939083,4	MCF-7	breast:
2	chr2:100912722..100916379-chr2:100917427..100921061,4	K562	blood:
3	chr2:100919515..100922139-chr2:100935944..100938623,2	K562	blood:
4	chr2:100919689..100923589-chr2:100924363..100927455,3	K562	blood:
5	chr2:100919683..100921615-chr2:100928582..100930421,2	MCF-7	breast:
6	chr2:100907987..100912107-chr2:100920120..100922978,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170500	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17023897	1.00[EUR][1000 genomes]
rs17023990	0.89[EUR][1000 genomes]
rs17024021	0.89[EUR][1000 genomes]
rs17024048	1.00[EUR][1000 genomes]
rs17024150	1.00[EUR][1000 genomes]
rs17024185	1.00[EUR][1000 genomes]
rs17024216	1.00[EUR][1000 genomes]
rs17353694	1.00[EUR][1000 genomes]
rs28827632	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3948255	1.00[EUR][1000 genomes]
rs57669367	1.00[EUR][1000 genomes]
rs57710676	1.00[EUR][1000 genomes]
rs58242629	1.00[EUR][1000 genomes]
rs58420862	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58658810	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59727890	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60078624	1.00[EUR][1000 genomes]
rs61057466	1.00[EUR][1000 genomes]
rs61070099	1.00[EUR][1000 genomes]
rs6732784	0.89[EUR][1000 genomes]
rs6736666	0.81[AFR][1000 genomes]
rs72964116	0.89[EUR][1000 genomes]
rs7582424	0.89[EUR][1000 genomes]
rs7605818	0.89[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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100900800-100926600	Weak transcription	Right Ventricle	heart
2	chr2:100901000-100937000	Weak transcription	Fetal Brain Male	brain
3	chr2:100903400-100930800	Weak transcription	Brain Substantia Nigra	brain
4	chr2:100903600-100926200	Weak transcription	Fetal Kidney	kidney
5	chr2:100908800-100926600	Weak transcription	Gastric	stomach
6	chr2:100909000-100920600	Weak transcription	Fetal Intestine Small	intestine
7	chr2:100910400-100925800	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:100910800-100933600	Weak transcription	K562	blood
9	chr2:100912800-100934800	Weak transcription	Brain Angular Gyrus	brain
10	chr2:100915800-100923600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:100915800-100930600	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:100916000-100923600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:100916400-100925800	Strong transcription	A549	lung
14	chr2:100916600-100921400	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:100918000-100920600	Weak transcription	Lung	lung
16	chr2:100918200-100923800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:100918200-100926400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:100918200-100926600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:100918200-100926600	Weak transcription	Left Ventricle	heart
20	chr2:100918200-100929400	Weak transcription	Pancreas	Pancrea
21	chr2:100918200-100937600	Weak transcription	Aorta	Aorta
22	chr2:100918400-100920600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:100918400-100931800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:100918600-100920600	Weak transcription	Brain Germinal Matrix	brain
25	chr2:100919000-100926600	Weak transcription	Fetal Brain Female	brain
26	chr2:100919200-100929000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:100919400-100923000	Weak transcription	Brain Anterior Caudate	brain
28	chr2:100919400-100923000	Weak transcription	Ovary	ovary
29	chr2:100919800-100923000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:100919800-100931200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:100920200-100921000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr2:100920400-100921000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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