Variant report

Variant	rs1331293
Chromosome Location	chr6:44364816-44364817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44354045..44356873-chr6:44363627..44365870,2	MCF-7	breast:
2	chr6:44362914..44365374-chr6:44494792..44497518,2	K562	blood:
3	chr6:44356285..44358292-chr6:44361831..44365473,3	K562	blood:
4	chr6:44364744..44367505-chr6:44368641..44372251,3	K562	blood:
5	chr6:44357790..44359510-chr6:44364205..44366302,2	K562	blood:
6	chr6:44354712..44356273-chr6:44362969..44365442,2	K562	blood:

Variant related genes	Relation type
ENSG00000096401	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11571907	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11571915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11571917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11571951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11571957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11571998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11572002	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11572056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193699	1.00[ASN][1000 genomes]
rs1293204	1.00[ASN][1000 genomes]
rs1411905	1.00[ASN][1000 genomes]
rs161706	1.00[ASN][1000 genomes]
rs324136	1.00[ASN][1000 genomes]
rs325005	1.00[ASN][1000 genomes]
rs325006	1.00[ASN][1000 genomes]
rs325007	1.00[ASN][1000 genomes]
rs325008	1.00[ASN][1000 genomes]
rs325009	1.00[ASN][1000 genomes]
rs4308546	1.00[ASN][1000 genomes]
rs4714778	1.00[ASN][1000 genomes]
rs482336	1.00[ASN][1000 genomes]
rs534416	1.00[ASN][1000 genomes]
rs567192	1.00[ASN][1000 genomes]
rs61462867	1.00[ASN][1000 genomes]
rs650075	1.00[ASN][1000 genomes]
rs6927345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7740535	1.00[ASN][1000 genomes]
rs9369483	1.00[ASN][1000 genomes]
rs9472243	1.00[ASN][1000 genomes]
rs9472244	1.00[ASN][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	chr6:44357400-44367000	Strong transcription	HSMM	muscle
4	chr6:44357400-44367200	Strong transcription	Fetal Muscle Leg	muscle
5	chr6:44357600-44370200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:44357600-44377600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:44357600-44383200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:44357600-44388200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:44357800-44367000	Strong transcription	Fetal Muscle Trunk	muscle
10	chr6:44357800-44367200	Strong transcription	Placenta	Placenta
11	chr6:44357800-44378200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:44358000-44366200	Strong transcription	NH-A	brain
13	chr6:44358000-44366800	Strong transcription	HMEC	breast
14	chr6:44358000-44367400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:44358000-44369200	Strong transcription	Osteobl	bone
16	chr6:44358000-44384800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:44358000-44385600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr6:44358000-44385600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:44358000-44385800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr6:44358000-44386000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:44358200-44369200	Strong transcription	Hela-S3	cervix
22	chr6:44358200-44378000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr6:44358200-44381800	Strong transcription	Fetal Thymus	thymus
24	chr6:44358200-44385600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr6:44358400-44367600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:44358400-44368400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:44358400-44368400	Strong transcription	Adipose Nuclei	Adipose
28	chr6:44358400-44378400	Strong transcription	K562	blood
29	chr6:44358400-44385200	Strong transcription	Dnd41	blood
30	chr6:44358400-44386000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:44358400-44403800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:44358600-44367200	Strong transcription	Thymus	Thymus
33	chr6:44358600-44369200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr6:44358600-44378600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:44358600-44381800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:44358800-44366400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:44358800-44367000	Strong transcription	Lung	lung
38	chr6:44358800-44369400	Strong transcription	Fetal Stomach	stomach
39	chr6:44358800-44385600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr6:44359000-44366000	Strong transcription	Ovary	ovary
41	chr6:44359000-44366800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:44359000-44367800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:44359000-44369200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:44359000-44369400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr6:44359200-44365000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:44359200-44366000	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr6:44359200-44366000	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr6:44359200-44366000	Strong transcription	Spleen	Spleen
49	chr6:44359200-44366200	Strong transcription	HSMMtube	muscle
50	chr6:44359200-44366400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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