Variant report

Variant	rs9381299
Chromosome Location	chr6:44211867-44211868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:44133200..44145960-chr6:44211718..44220192,28	K562	blood:

Variant related genes	Relation type
ENSG00000137225	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12202977	0.81[ASN][1000 genomes]
rs12216216	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1570920	0.82[ASN][1000 genomes]
rs2070695	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2894567	0.92[ASN][1000 genomes]
rs3187	0.85[CHB][hapmap];0.83[CHD][hapmap]
rs3734704	0.92[ASN][1000 genomes]
rs3757280	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3757285	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3757286	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs495061	0.92[ASN][1000 genomes]
rs666462	0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs73733886	0.95[AFR][1000 genomes]
rs9367189	0.96[ASN][1000 genomes]
rs9367190	0.83[CHD][hapmap];0.92[MEX][hapmap];0.82[AMR][1000 genomes]
rs9381298	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9381303	0.83[CHD][hapmap];0.92[MEX][hapmap];0.82[AMR][1000 genomes]
rs9394994	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9394995	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv885852	chr6:44185901-44222718	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
7	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
10	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44205800-44212800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:44205800-44213200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:44206000-44212800	Weak transcription	Right Ventricle	heart
4	chr6:44206000-44213200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:44206000-44213400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:44206000-44213400	Weak transcription	Right Atrium	heart
7	chr6:44206200-44213000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:44206200-44213200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr6:44206200-44213200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr6:44206200-44213400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:44206200-44213400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:44206200-44213600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:44206400-44213000	Weak transcription	Brain Substantia Nigra	brain
14	chr6:44206400-44213200	Weak transcription	Adipose Nuclei	Adipose
15	chr6:44206400-44213200	Weak transcription	Stomach Mucosa	stomach
16	chr6:44206400-44213200	Weak transcription	HUVEC	blood vessel
17	chr6:44206400-44213200	Weak transcription	Osteobl	bone
18	chr6:44206600-44213200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr6:44206600-44213200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:44206600-44213400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:44206600-44213400	Weak transcription	GM12878-XiMat	blood
22	chr6:44206800-44212000	Weak transcription	Fetal Thymus	thymus
23	chr6:44206800-44212600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:44206800-44212800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:44206800-44213000	Weak transcription	K562	blood
26	chr6:44206800-44213200	Weak transcription	Brain Anterior Caudate	brain
27	chr6:44206800-44213400	Weak transcription	Fetal Intestine Large	intestine
28	chr6:44206800-44213400	Weak transcription	Thymus	Thymus
29	chr6:44207000-44212800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr6:44207000-44213200	Weak transcription	A549	lung
31	chr6:44207000-44213400	Weak transcription	Hela-S3	cervix
32	chr6:44207400-44212800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:44207400-44212800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:44207400-44213400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:44207400-44213400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:44207400-44213400	Weak transcription	NHEK	skin
37	chr6:44209800-44213400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr6:44211800-44213000	Flanking Active TSS	HepG2	liver

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