Variant report

Variant	rs72782668
Chromosome Location	chr2:10038299-10038300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10033449..10037613-chr2:10038043..10042119,5	MCF-7	breast:
2	chr2:10032485..10035098-chr2:10036586..10038853,2	K562	blood:
3	chr2:9939991..9942900-chr2:10036080..10038755,2	MCF-7	breast:
4	chr2:10037000..10039031-chr2:10044234..10045895,2	MCF-7	breast:
5	chr2:10037949..10040040-chr2:10055239..10057291,2	MCF-7	breast:
6	chr2:10036313..10038528-chr2:10044301..10045845,2	MCF-7	breast:
7	chr2:10036109..10038742-chr2:10044743..10047677,2	K562	blood:
8	chr2:10037952..10040907-chr2:10047681..10050214,2	K562	blood:

No data

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17454513	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs287983	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56699826	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57441833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61462423	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68010549	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72782619	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72782623	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72782660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72782669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72782688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72782696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72784405	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv873631	chr2:9975557-10059770	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv580960	chr2:9993451-10066694	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv873632	chr2:10000978-10045014	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
8	nsv1009210	chr2:10030072-10052257	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1006533	chr2:10030964-10065624	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1004743	chr2:10031389-10065624	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9987200-10038400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:9993800-10079600	Weak transcription	Gastric	stomach
3	chr2:9999200-10053800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:10014800-10045400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:10017800-10073000	Weak transcription	Right Ventricle	heart
6	chr2:10024400-10053800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:10024800-10047600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:10024800-10051400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:10025000-10047000	Weak transcription	Thymus	Thymus
10	chr2:10025000-10053800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:10025000-10053800	Weak transcription	Ovary	ovary
12	chr2:10025000-10054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:10025000-10054400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:10025000-10054400	Weak transcription	Spleen	Spleen
15	chr2:10025400-10052600	Weak transcription	Left Ventricle	heart
16	chr2:10026000-10072800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:10027000-10040400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:10027000-10047000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:10027400-10052200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:10027400-10053400	Weak transcription	Fetal Brain Male	brain
21	chr2:10027600-10052000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:10028200-10051000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:10028200-10053800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:10030400-10077200	Weak transcription	Aorta	Aorta
25	chr2:10030600-10080600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:10032600-10044600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr2:10032800-10044400	Weak transcription	Dnd41	blood
28	chr2:10033000-10044000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:10033000-10044400	Weak transcription	Primary B cells from cord blood	blood
30	chr2:10033000-10052800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:10033600-10041600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:10034800-10038600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:10034800-10038600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:10035200-10038400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:10035200-10038600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:10035200-10038800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:10035400-10038400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:10035600-10038600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:10035600-10038800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:10035800-10038400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:10035800-10038400	Enhancers	Brain Hippocampus Middle	brain
42	chr2:10035800-10038600	Enhancers	Hela-S3	cervix
43	chr2:10036000-10038400	Enhancers	A549	lung
44	chr2:10036000-10038600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:10036000-10038600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:10036000-10038600	Enhancers	Fetal Stomach	stomach
47	chr2:10036000-10038600	Enhancers	Stomach Mucosa	stomach
48	chr2:10036000-10065800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:10036200-10038400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:10036200-10038400	Enhancers	NHLF	lung

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