Variant report

Variant	rs2149452
Chromosome Location	chr6:24984222-24984223
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:24980023..24981971-chr6:24983813..24985349,2	K562	blood:
2	chr6:24982123..24984384-chr6:24986834..24989046,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10946737	0.85[EUR][1000 genomes]
rs10946739	0.86[EUR][1000 genomes]
rs12192232	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12194111	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs12205717	0.83[EUR][1000 genomes]
rs1410686	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1410687	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2209932	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2894032	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4712870	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4712871	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4712872	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4712876	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62401116	0.86[EUR][1000 genomes]
rs6456640	0.90[EUR][1000 genomes]
rs6456641	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6900169	0.89[EUR][1000 genomes]
rs6935286	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs742952	0.87[EUR][1000 genomes]
rs7740315	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7768143	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9295639	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9295640	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9295641	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9358815	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9358816	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9366591	0.90[EUR][1000 genomes]
rs9393600	0.96[CEU][hapmap];0.80[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1019504	chr6:24869174-24994758	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv883482	chr6:24926730-25035920	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1023989	chr6:24930362-25285679	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	nsv1030634	chr6:24938277-25040161	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv830610	chr6:24951741-25124239	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24950400-24988600	Weak transcription	Dnd41	blood
2	chr6:24977800-24986000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr6:24978800-24989400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr6:24979000-24988800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr6:24979200-24984400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:24980000-24985000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:24980000-24986200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:24980000-24989200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr6:24980200-24990400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr6:24981200-24991800	Weak transcription	Thymus	Thymus
11	chr6:24981800-24985600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:24981800-24986000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:24981800-24987400	Weak transcription	Lung	lung
14	chr6:24981800-24990600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:24981800-24992000	Weak transcription	Gastric	stomach
16	chr6:24982000-24985200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:24982000-24985200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:24982000-24986000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:24982000-24986400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr6:24982000-24986600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr6:24982200-24985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:24982200-24985200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr6:24982200-24986600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr6:24982200-24991800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:24982400-24985200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr6:24982400-24986400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:24982400-24986600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:24982400-24991800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:24982800-24984400	Enhancers	Fetal Heart	heart
30	chr6:24982800-24986400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:24983000-24985200	Weak transcription	NHEK	skin
32	chr6:24983000-24985800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr6:24983200-24985200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr6:24983200-24985200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:24983200-24985200	Weak transcription	HMEC	breast
36	chr6:24983200-24985600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:24983200-24986000	Weak transcription	Primary T cells from cord blood	blood
38	chr6:24983200-24989600	Weak transcription	Stomach Mucosa	stomach
39	chr6:24983400-24985000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:24983400-24985000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:24983400-24985000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr6:24983400-24985000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr6:24983400-24985200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:24983400-24985200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr6:24983400-24985400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr6:24983600-24984400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:24983600-24984400	Enhancers	Pancreas	Pancrea
48	chr6:24983600-24985200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr6:24983800-24985000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:24983800-24985000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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