Variant report

Variant	rs72938247
Chromosome Location	chr2:110318109-110318110
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:110314274..110316891-chr2:110317469..110319541,2	K562	blood:
2	chr2:110316867..110319657-chr2:110370281..110372107,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186522	Chromatin interaction
ENSG00000198142	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs28361394	1.00[AFR][1000 genomes]
rs28374561	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28603269	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28639612	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28658552	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28707057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28718793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28721931	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60978762	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61054424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938243	1.00[AMR][1000 genomes]
rs72938283	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938294	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940226	0.89[AFR][1000 genomes];1.00[AMR][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	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv2874	chr2:110289373-110333621	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv482469	chr2:110302488-110452580	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110293400-110331600	Weak transcription	Right Ventricle	heart
2	chr2:110293400-110352200	Weak transcription	Gastric	stomach
3	chr2:110297400-110351600	Weak transcription	Brain Germinal Matrix	brain
4	chr2:110297800-110331800	Weak transcription	Colonic Mucosa	Colon
5	chr2:110299600-110318600	Weak transcription	Esophagus	oesophagus
6	chr2:110299600-110320200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:110299600-110324200	Weak transcription	Brain Angular Gyrus	brain
8	chr2:110301400-110325000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:110301600-110321000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:110302000-110333600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:110302200-110357600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:110302400-110343000	Weak transcription	Psoas Muscle	Psoas
13	chr2:110303000-110320400	Weak transcription	Brain Substantia Nigra	brain
14	chr2:110304200-110318800	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:110304800-110320800	Weak transcription	Fetal Heart	heart
16	chr2:110307200-110322800	Weak transcription	Brain Anterior Caudate	brain
17	chr2:110308400-110363400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:110308600-110358600	Weak transcription	Small Intestine	intestine
19	chr2:110309000-110347400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:110309800-110319800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:110309800-110323000	Weak transcription	Aorta	Aorta
22	chr2:110309800-110351600	Weak transcription	Pancreas	Pancrea
23	chr2:110310200-110318200	Weak transcription	NHLF	lung
24	chr2:110310200-110351600	Weak transcription	Fetal Brain Male	brain
25	chr2:110310400-110321000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr2:110310400-110323000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:110310400-110323000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:110310400-110337800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:110310400-110338400	Weak transcription	Lung	lung
30	chr2:110310400-110342000	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:110310400-110351600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:110310400-110351800	Weak transcription	Fetal Brain Female	brain
33	chr2:110310400-110353800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:110310400-110363800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:110310600-110341400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:110310800-110318200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:110310800-110320200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:110310800-110336800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:110312000-110318600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:110312000-110318600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:110312200-110321400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:110312200-110326000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:110312200-110328400	Weak transcription	Ovary	ovary
44	chr2:110313000-110321400	Weak transcription	Fetal Intestine Large	intestine
45	chr2:110313400-110325200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:110313400-110337000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:110313600-110319800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:110313600-110323000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:110315000-110318800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:110315200-110322800	Weak transcription	Adipose Nuclei	Adipose

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