Variant report

Variant	rs9472275
Chromosome Location	chr6:44371080-44371081
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44370625..44373437-chr6:44399081..44401872,3	K562	blood:
2	chr6:44370773..44372443-chr6:44426552..44428315,2	K562	blood:
3	chr6:44364744..44367505-chr6:44368641..44372251,3	K562	blood:
4	chr6:44352373..44357409-chr6:44366084..44371174,7	K562	blood:

Variant related genes	Relation type
ENSG00000096401	Chromatin interaction
ENSG00000267849	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1888671	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2273666	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2273667	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs2297334	0.82[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2894572	0.91[AFR][1000 genomes]
rs4134405	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4143679	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67565544	1.00[EUR][1000 genomes]
rs6934058	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9349284	1.00[EUR][1000 genomes]
rs9357444	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9369481	0.82[EUR][1000 genomes]
rs9369488	0.96[AFR][1000 genomes]
rs9381324	0.82[AFR][1000 genomes]
rs9395016	0.98[AFR][1000 genomes]
rs9395017	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs9462987	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019145	chr6:44313576-44421440	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 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	chr6:44356400-44393800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:44357200-44376200	Weak transcription	Stomach Mucosa	stomach
3	chr6:44357600-44377600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:44357600-44383200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:44357600-44388200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:44357800-44378200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:44358000-44384800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:44358000-44385600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:44358000-44385600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:44358000-44385800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr6:44358000-44386000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:44358200-44378000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr6:44358200-44381800	Strong transcription	Fetal Thymus	thymus
14	chr6:44358200-44385600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr6:44358400-44378400	Strong transcription	K562	blood
16	chr6:44358400-44385200	Strong transcription	Dnd41	blood
17	chr6:44358400-44386000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:44358400-44403800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:44358600-44378600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:44358600-44381800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:44358800-44385600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr6:44359200-44372200	Strong transcription	HepG2	liver
23	chr6:44359200-44382000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:44359400-44386000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr6:44360200-44381200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr6:44365000-44374000	Weak transcription	Pancreas	Pancrea
27	chr6:44365000-44374200	Weak transcription	Small Intestine	intestine
28	chr6:44365200-44371600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:44365200-44371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:44365600-44374200	Weak transcription	Fetal Heart	heart
31	chr6:44365800-44371400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr6:44365800-44371800	Weak transcription	Aorta	Aorta
33	chr6:44366000-44371600	Weak transcription	Brain Angular Gyrus	brain
34	chr6:44366000-44372000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr6:44366000-44374200	Weak transcription	Right Ventricle	heart
36	chr6:44366000-44383200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr6:44366200-44371400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr6:44366200-44371400	Weak transcription	NH-A	brain
39	chr6:44366200-44372200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr6:44366400-44375800	Weak transcription	NHLF	lung
41	chr6:44366600-44371600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr6:44366800-44371600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr6:44367000-44372000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:44367000-44372200	Weak transcription	A549	lung
45	chr6:44367800-44382000	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr6:44368000-44385000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:44368200-44378600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:44368200-44382000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr6:44368400-44378400	Strong transcription	HSMM	muscle
50	chr6:44368400-44381600	Strong transcription	H1 Cell Line	embryonic stem cell

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