Variant report

Variant	rs41294193
Chromosome Location	chr10:6013630-6013631
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5853245..5855469-chr10:6013214..6014749,2	K562	blood:
2	chr10:6012910..6014707-chr10:6021829..6023507,2	MCF-7	breast:
3	chr10:6007109..6010218-chr10:6012189..6014551,3	MCF-7	breast:
4	chr10:6013212..6015263-chr10:6018086..6020724,4	MCF-7	breast:
5	chr10:6012288..6016464-chr10:6016504..6020511,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000057608	Chromatin interaction
ENSG00000134470	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11574672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12412401	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12414260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12415136	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136612	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181147	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294035	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41294171	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294197	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41294199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294201	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294211	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5980800-6017800	Weak transcription	Thymus	Thymus
2	chr10:5986200-6018600	Weak transcription	Aorta	Aorta
3	chr10:5987600-6018000	Weak transcription	Psoas Muscle	Psoas
4	chr10:5987800-6017800	Weak transcription	Fetal Thymus	thymus
5	chr10:5999400-6017600	Weak transcription	Primary B cells from cord blood	blood
6	chr10:6001000-6017400	Weak transcription	NHLF	lung
7	chr10:6002400-6017800	Weak transcription	Placenta	Placenta
8	chr10:6005400-6017400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr10:6005400-6017800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr10:6005400-6018000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:6005800-6018200	Weak transcription	Ovary	ovary
12	chr10:6007600-6018200	Weak transcription	Right Ventricle	heart
13	chr10:6008400-6017800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr10:6010800-6017800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr10:6012000-6014000	Enhancers	Fetal Intestine Large	intestine
16	chr10:6012000-6014200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr10:6012200-6014000	Enhancers	Fetal Intestine Small	intestine
18	chr10:6012200-6014200	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr10:6012400-6015000	Enhancers	Hela-S3	cervix
20	chr10:6012400-6015200	Enhancers	Small Intestine	intestine
21	chr10:6012600-6014200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr10:6012800-6013800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr10:6012800-6013800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr10:6012800-6013800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr10:6012800-6014000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr10:6012800-6014000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:6012800-6014000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:6012800-6014000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr10:6012800-6014200	Enhancers	Primary B cells from peripheral blood	blood
30	chr10:6012800-6014200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr10:6012800-6014200	Enhancers	Gastric	stomach
32	chr10:6012800-6014200	Enhancers	Lung	lung
33	chr10:6012800-6014200	Enhancers	Pancreas	Pancrea
34	chr10:6013000-6014000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr10:6013000-6014000	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr10:6013000-6014000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr10:6013000-6014000	Flanking Active TSS	K562	blood
38	chr10:6013000-6014200	Flanking Active TSS	GM12878-XiMat	blood
39	chr10:6013000-6014400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr10:6013000-6014400	Enhancers	Adipose Nuclei	Adipose
41	chr10:6013000-6015200	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr10:6013200-6013800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr10:6013200-6013800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr10:6013200-6013800	Flanking Active TSS	NHEK	skin
45	chr10:6013200-6014000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr10:6013200-6014000	Flanking Active TSS	HUVEC	blood vessel
47	chr10:6013200-6014200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr10:6013400-6013800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr10:6013400-6013800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr10:6013400-6013800	Active TSS	Rectal Smooth Muscle	rectum

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