Variant report

Variant	rs6733589
Chromosome Location	chr2:97293140-97293141
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97292796..97298372-chr2:97302534..97305789,7	MCF-7	breast:
2	chr2:97288040..97290630-chr2:97292751..97295463,2	MCF-7	breast:
3	chr2:97292666..97295153-chr2:97348242..97350372,2	MCF-7	breast:
4	chr2:97291792..97294503-chr2:97426119..97429378,3	MCF-7	breast:
5	chr2:97292921..97294497-chr2:97313635..97315225,2	K562	blood:
6	chr2:97283395..97286188-chr2:97291433..97294143,2	MCF-7	breast:
7	chr2:97269779..97272060-chr2:97291956..97293791,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158158	Chromatin interaction
ENSG00000114982	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10183164	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10185002	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10199227	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10203766	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10209315	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13384114	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13389475	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13393729	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13395011	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13398740	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13405842	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2292942	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35715176	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55687728	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55716397	0.88[ASN][1000 genomes]
rs59398186	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59426746	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60326991	0.89[ASN][1000 genomes]
rs61063398	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6718340	0.89[ASN][1000 genomes]
rs6732115	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6753713	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72939379	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72941209	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72941214	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72941219	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72941235	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs747757	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7604736	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7607990	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh 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	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97258200-97302800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:97261200-97301600	Strong transcription	Fetal Thymus	thymus
3	chr2:97275000-97298600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:97278600-97293200	Weak transcription	Small Intestine	intestine
5	chr2:97279800-97293200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:97283000-97293800	Weak transcription	Fetal Heart	heart
7	chr2:97283000-97296400	Weak transcription	Psoas Muscle	Psoas
8	chr2:97283200-97293400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:97283400-97294600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:97283600-97293800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:97285200-97296600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:97285400-97293400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:97285400-97293600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:97285400-97293600	Weak transcription	Ovary	ovary
15	chr2:97285400-97294000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:97285400-97296800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:97285400-97302400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:97285600-97293200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:97285600-97293200	Weak transcription	Lung	lung
20	chr2:97285600-97293200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:97285600-97293400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:97285600-97293400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:97285600-97293600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:97285600-97293800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:97285600-97293800	Weak transcription	Esophagus	oesophagus
26	chr2:97285600-97293800	Weak transcription	Pancreas	Pancrea
27	chr2:97285600-97295400	Weak transcription	NHLF	lung
28	chr2:97285600-97296400	Weak transcription	Gastric	stomach
29	chr2:97285600-97296800	Weak transcription	Colonic Mucosa	Colon
30	chr2:97285800-97293400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:97285800-97293600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr2:97285800-97293600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr2:97285800-97293600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:97285800-97293600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:97285800-97293800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:97285800-97296400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:97285800-97300400	Weak transcription	Right Ventricle	heart
38	chr2:97285800-97302800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:97286200-97293200	Weak transcription	GM12878-XiMat	blood
40	chr2:97286200-97294400	Weak transcription	NHDF-Ad	bronchial
41	chr2:97286400-97293400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr2:97286400-97293800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:97286400-97296400	Weak transcription	Fetal Brain Male	brain
44	chr2:97286600-97293400	Weak transcription	Fetal Brain Female	brain
45	chr2:97287800-97296800	Strong transcription	Dnd41	blood
46	chr2:97288400-97301800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:97288800-97293400	Weak transcription	Spleen	Spleen
48	chr2:97288800-97298000	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr2:97288800-97298000	Weak transcription	Right Atrium	heart
50	chr2:97289000-97293600	Weak transcription	K562	blood

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