Variant report

Variant	rs41290327
Chromosome Location	chr10:6001853-6001854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6000236..6003390-chr10:6003998..6007470,4	K562	blood:
2	chr10:6000182..6002722-chr10:6191709..6195207,3	K562	blood:
3	chr10:5999303..6003344-chr10:6003662..6007961,5	MCF-7	breast:
4	chr10:6001696..6002224-chr10:6018770..6019697,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263628	Chromatin interaction
ENSG00000134470	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10732257	0.84[ASN][1000 genomes]
rs3136614	0.94[ASN][1000 genomes]
rs3181149	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6602354	0.81[ASN][1000 genomes]
rs6602357	0.84[ASN][1000 genomes]
rs7076858	0.84[ASN][1000 genomes]
rs7901803	0.94[ASN][1000 genomes]
rs8177621	1.00[AMR][1000 genomes]
rs8177709	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177710	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh 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	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv1041261	chr10:5962635-6052196	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1050983	chr10:5963921-6052196	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv519436	chr10:5997820-6008613	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv975792	chr10:5998348-6008505	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv549907	chr10:6000259-6002368	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5969600-6012000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr10:5971400-6013200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr10:5980000-6013200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr10:5980800-6017800	Weak transcription	Thymus	Thymus
5	chr10:5981000-6003600	Weak transcription	Primary T cells from cord blood	blood
6	chr10:5986200-6018600	Weak transcription	Aorta	Aorta
7	chr10:5987600-6018000	Weak transcription	Psoas Muscle	Psoas
8	chr10:5987800-6017800	Weak transcription	Fetal Thymus	thymus
9	chr10:5988600-6011800	Weak transcription	Colon Smooth Muscle	Colon
10	chr10:5991400-6004800	Weak transcription	Brain Anterior Caudate	brain
11	chr10:5993600-6013200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr10:5994000-6011000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr10:5994000-6012800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr10:5994200-6012200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr10:5994200-6012800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:5995000-6004600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr10:5995400-6012400	Weak transcription	Small Intestine	intestine
18	chr10:5997600-6007600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:5997800-6003600	Strong transcription	Spleen	Spleen
20	chr10:5998200-6006400	Strong transcription	Liver	Liver
21	chr10:5998800-6002000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:5998800-6002000	Weak transcription	Placenta	Placenta
23	chr10:5999400-6017600	Weak transcription	Primary B cells from cord blood	blood
24	chr10:5999800-6002800	Enhancers	Hela-S3	cervix
25	chr10:5999800-6005800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr10:5999800-6008400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr10:5999800-6011000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr10:6000000-6002600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr10:6000000-6008600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr10:6000000-6008600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr10:6000200-6004000	Strong transcription	GM12878-XiMat	blood
32	chr10:6000200-6010800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr10:6000400-6003600	Strong transcription	Lung	lung
34	chr10:6000400-6004000	Strong transcription	Left Ventricle	heart
35	chr10:6000400-6004200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr10:6000600-6002000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr10:6000600-6005400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr10:6000800-6004800	Weak transcription	Fetal Lung	lung
39	chr10:6000800-6005400	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr10:6000800-6005800	Strong transcription	Adipose Nuclei	Adipose
41	chr10:6000800-6005800	Strong transcription	Colonic Mucosa	Colon
42	chr10:6000800-6006800	Strong transcription	Duodenum Mucosa	Duodenum
43	chr10:6000800-6006800	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr10:6001000-6002400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr10:6001000-6017400	Weak transcription	NHLF	lung
46	chr10:6001200-6002400	Strong transcription	Ovary	ovary
47	chr10:6001200-6002600	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr10:6001200-6003800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr10:6001200-6004000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr10:6001200-6006000	Strong transcription	Gastric	stomach

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