Variant report

Variant	rs6729219
Chromosome Location	chr2:72491066-72491067
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	EP300	chr2:72490863-72491184	SK-N-SH_RA	brain:	n/a	chr2:72491152-72491166 chr2:72491156-72491165
2	RAD21	chr2:72490887-72491140	SK-N-SH_RA	brain:	n/a	n/a
3	TCF12	chr2:72490287-72491079	A549	lung:	n/a	n/a
4	EP300	chr2:72490478-72491107	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
EXOC6B	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10173152	0.80[CEU][hapmap]
rs10196589	0.87[YRI][hapmap]
rs10207869	0.80[CEU][hapmap]
rs1159763	0.87[YRI][hapmap]
rs1159764	0.90[YRI][hapmap]
rs1159765	0.87[YRI][hapmap]
rs1159766	0.90[YRI][hapmap]
rs11682749	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13418637	0.87[YRI][hapmap]
rs17007984	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56178437	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60872571	0.81[EUR][1000 genomes]
rs61037557	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61448485	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6546751	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6546754	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66888584	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6709233	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6709493	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6717899	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs6724795	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6740982	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs68172337	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72835276	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7558666	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7565358	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7577354	1.00[CEU][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7577860	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7592404	1.00[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr2:72485200-72501800	Weak transcription	HSMMtube	muscle
2	chr2:72488200-72496600	Weak transcription	Psoas Muscle	Psoas
3	chr2:72489200-72508200	Weak transcription	Aorta	Aorta
4	chr2:72489800-72491400	Enhancers	Brain Substantia Nigra	brain
5	chr2:72490000-72491200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr2:72490000-72491200	Enhancers	A549	lung
7	chr2:72490000-72491400	Enhancers	Fetal Heart	heart
8	chr2:72490200-72491200	Enhancers	Brain Anterior Caudate	brain
9	chr2:72490200-72491200	Enhancers	Brain Hippocampus Middle	brain
10	chr2:72490200-72491200	Enhancers	Colonic Mucosa	Colon
11	chr2:72490200-72491200	Enhancers	Left Ventricle	heart
12	chr2:72490200-72491200	Enhancers	Ovary	ovary
13	chr2:72490200-72491200	Enhancers	Osteobl	bone
14	chr2:72490200-72491400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:72490200-72491400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:72490200-72491400	Enhancers	Brain Angular Gyrus	brain
17	chr2:72490200-72491400	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:72490200-72491400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr2:72490400-72491200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:72490400-72491200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr2:72490400-72491200	Enhancers	Right Atrium	heart
22	chr2:72490400-72491200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:72490400-72491400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:72490400-72491400	Enhancers	Duodenum Mucosa	Duodenum
25	chr2:72490400-72491400	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr2:72490400-72495800	Weak transcription	Pancreas	Pancrea
27	chr2:72490600-72491200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:72490600-72491200	Weak transcription	Right Ventricle	heart
29	chr2:72490600-72491400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:72490600-72491400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:72490600-72491400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:72490600-72491400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:72490600-72491400	Enhancers	Rectal Smooth Muscle	rectum
34	chr2:72490600-72492200	Enhancers	Colon Smooth Muscle	Colon
35	chr2:72490600-72497200	Weak transcription	Fetal Muscle Leg	muscle
36	chr2:72491000-72491400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:72491000-72491600	Enhancers	Fetal Stomach	stomach

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