Variant report

Variant	rs72858735
Chromosome Location	chr2:153593567-153593568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153574438..153578622-chr2:153591966..153593702,3	MCF-7	breast:
2	chr2:153586570..153588683-chr2:153591987..153594284,2	K562	blood:
3	chr2:153580599..153583236-chr2:153592438..153595174,3	K562	blood:
4	chr2:153586570..153590244-chr2:153591185..153594577,6	K562	blood:

Variant related genes	Relation type
ENSG00000177917	Chromatin interaction
ENSG00000196504	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10178618	0.89[ASN][1000 genomes]
rs11679491	0.87[ASN][1000 genomes]
rs11883762	0.92[ASN][1000 genomes]
rs12052946	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13018870	0.89[ASN][1000 genomes]
rs1561267	0.92[ASN][1000 genomes]
rs16831451	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16831529	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16831728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2272535	0.89[ASN][1000 genomes]
rs2293680	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3748941	0.89[ASN][1000 genomes]
rs3817620	0.92[ASN][1000 genomes]
rs3845678	0.85[ASN][1000 genomes]
rs4146903	0.89[ASN][1000 genomes]
rs4664119	0.89[ASN][1000 genomes]
rs55986999	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6710417	0.92[ASN][1000 genomes]
rs6714218	0.89[ASN][1000 genomes]
rs72871192	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72872615	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs746780	0.90[ASN][1000 genomes]
rs7592127	0.89[ASN][1000 genomes]
rs893328	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv1798142	chr2:153578113-153600123	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875293	chr2:153578900-153617420	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv834422	chr2:153589448-153743069	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153575800-153611600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:153575800-153611600	Weak transcription	Esophagus	oesophagus
3	chr2:153575800-153621400	Weak transcription	Pancreas	Pancrea
4	chr2:153576000-153594400	Weak transcription	Left Ventricle	heart
5	chr2:153576000-153615800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:153576200-153594800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:153577000-153594400	Weak transcription	Aorta	Aorta
8	chr2:153577000-153594600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:153577000-153595000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:153577200-153594200	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:153577200-153594600	Weak transcription	Spleen	Spleen
12	chr2:153577200-153617600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:153577600-153594200	Weak transcription	Fetal Intestine Small	intestine
14	chr2:153577600-153617800	Weak transcription	NHLF	lung
15	chr2:153577800-153594800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:153578600-153605800	Weak transcription	Fetal Heart	heart
17	chr2:153579600-153602000	Weak transcription	Fetal Brain Male	brain
18	chr2:153579800-153599800	Weak transcription	A549	lung
19	chr2:153582000-153610600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:153583000-153611600	Weak transcription	Lung	lung
21	chr2:153585800-153594200	Weak transcription	Fetal Stomach	stomach
22	chr2:153587400-153594000	Weak transcription	Gastric	stomach
23	chr2:153587400-153594200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:153587400-153595600	Weak transcription	Psoas Muscle	Psoas
25	chr2:153587400-153603800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:153587400-153608800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:153587400-153610600	Weak transcription	Small Intestine	intestine
28	chr2:153587600-153594000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:153587600-153599800	Weak transcription	Stomach Mucosa	stomach
30	chr2:153587600-153602000	Weak transcription	Hela-S3	cervix
31	chr2:153587600-153618000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:153587600-153621600	Weak transcription	NHEK	skin
33	chr2:153587800-153594000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:153588000-153617800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:153588200-153595200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr2:153588200-153618600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:153588600-153619400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:153589400-153613600	Weak transcription	Brain Angular Gyrus	brain
39	chr2:153589600-153601600	Weak transcription	Brain Substantia Nigra	brain
40	chr2:153590200-153616800	Weak transcription	Right Ventricle	heart
41	chr2:153590400-153620400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:153590800-153595600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:153590800-153596800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:153591000-153593800	Strong transcription	HSMM	muscle
45	chr2:153591000-153594400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:153591000-153595200	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr2:153591000-153596000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:153591000-153597000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:153591000-153611800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:153591200-153594600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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