Variant report

Variant	rs9379686
Chromosome Location	chr6:24715353-24715354
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	chr6:24711892..24724164-chr6:24769415..24786834,81	K562	blood:
2	chr6:24714616..24717353-chr6:24764940..24766713,2	K562	blood:
3	chr6:24661385..24670379-chr6:24713871..24722680,32	K562	blood:
4	chr6:24502718..24505589-chr6:24714099..24715780,2	K562	blood:
5	chr6:24660920..24672880-chr6:24713381..24723000,42	K562	blood:
6	chr6:24701577..24703481-chr6:24714013..24715761,2	MCF-7	breast:
7	chr6:24714787..24716886-chr6:24784386..24786404,4	MCF-7	breast:
8	chr6:24693145..24694972-chr6:24714039..24715986,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111802	Chromatin interaction
ENSG00000272345	Chromatin interaction
ENSG00000112304	Chromatin interaction
ENSG00000112312	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12662779	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889592	0.83[AMR][1000 genomes]
rs16901739	0.91[GIH][hapmap];0.95[MEX][hapmap]
rs2056998	0.91[GIH][hapmap];0.90[MEX][hapmap]
rs2073013	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs2145753	0.81[JPT][hapmap]
rs2294686	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2294688	0.91[GIH][hapmap];0.90[MEX][hapmap]
rs2294689	0.91[GIH][hapmap];0.90[MEX][hapmap]
rs2876673	0.81[JPT][hapmap]
rs2876679	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3181230	0.91[GIH][hapmap];0.90[MEX][hapmap]
rs3181236	0.83[AMR][1000 genomes]
rs3212229	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs4298343	1.00[CEU][hapmap]
rs60707509	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9356944	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356945	0.81[JPT][hapmap]
rs9366579	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9379679	0.91[GIH][hapmap];0.90[MEX][hapmap]
rs9379682	0.84[AMR][1000 genomes]
rs9461050	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9467251	0.91[GIH][hapmap];0.90[MEX][hapmap]
rs9467257	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3508002	chr6:24618580-24732946	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv3508003	chr6:24618580-24732946	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv830609	chr6:24712086-24896647	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
4	nsv428474	chr6:24714157-24797977	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24697800-24715800	Strong transcription	Fetal Thymus	thymus
2	chr6:24698200-24716200	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:24698200-24716200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:24698200-24716400	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:24698200-24717400	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr6:24698400-24717400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr6:24698600-24716200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:24698600-24716200	Weak transcription	Right Atrium	heart
9	chr6:24699000-24716600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:24699000-24717400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:24700000-24716800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:24701400-24715400	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr6:24701400-24716800	Strong transcription	Placenta	Placenta
14	chr6:24701600-24716200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:24701600-24716200	Strong transcription	Stomach Smooth Muscle	stomach
16	chr6:24701600-24716200	Strong transcription	HMEC	breast
17	chr6:24701600-24716600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr6:24701600-24716600	Strong transcription	Fetal Muscle Leg	muscle
19	chr6:24701800-24715400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:24701800-24715600	Strong transcription	Osteobl	bone
21	chr6:24701800-24716200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:24701800-24716800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:24702200-24716400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:24702200-24716600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:24702600-24716000	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr6:24702800-24716000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:24702800-24716400	Strong transcription	Fetal Lung	lung
28	chr6:24702800-24716600	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr6:24703000-24716200	Strong transcription	HSMM	muscle
30	chr6:24703000-24716200	Strong transcription	NH-A	brain
31	chr6:24703000-24717200	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr6:24703200-24716200	Strong transcription	NHDF-Ad	bronchial
33	chr6:24703400-24716400	Strong transcription	Fetal Kidney	kidney
34	chr6:24703800-24718000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr6:24704600-24715400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr6:24705000-24717400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
37	chr6:24705200-24716200	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr6:24705200-24716600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
39	chr6:24705400-24715400	Strong transcription	Thymus	Thymus
40	chr6:24705400-24716400	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr6:24705600-24716600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr6:24708600-24717000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:24708800-24719400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:24709200-24716600	Weak transcription	Aorta	Aorta
45	chr6:24709600-24719000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:24709800-24717600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:24710600-24716600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr6:24710800-24716800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:24711000-24716600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr6:24711000-24716600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--

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