Variant report

Variant	rs72478270
Chromosome Location	chr10:6204318-6204319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6198555..6200415-chr10:6204231..6206282,2	K562	blood:
2	chr10:6183365..6192251-chr10:6204124..6207252,15	MCF-7	breast:
3	chr10:6178289..6180326-chr10:6204239..6205826,2	K562	blood:
4	chr10:4943122..4945399-chr10:6203684..6206362,2	K562	blood:
5	chr10:6185340..6191102-chr10:6203416..6207424,7	K562	blood:
6	chr10:6202871..6212786-chr10:6240811..6248696,29	MCF-7	breast:
7	chr10:6203753..6210403-chr10:6228380..6234446,7	MCF-7	breast:
8	chr10:6180971..6185195-chr10:6203384..6207419,4	MCF-7	breast:
9	chr10:6203235..6207397-chr10:6442888..6446681,6	MCF-7	breast:
10	chr10:6192754..6196744-chr10:6204087..6207333,8	MCF-7	breast:
11	chr10:6182985..6185643-chr10:6203385..6205220,2	K562	blood:
12	chr10:6185650..6194925-chr10:6200700..6207657,20	K562	blood:
13	chr10:6204009..6209137-chr10:6241452..6247054,19	MCF-7	breast:
14	chr10:6129793..6132520-chr10:6203974..6206960,3	MCF-7	breast:
15	chr10:6199590..6201905-chr10:6203566..6205764,2	MCF-7	breast:
16	chr10:6202105..6203646-chr10:6203962..6206668,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000263628	Chromatin interaction
ENSG00000213994	Chromatin interaction
ENSG00000201581	Chromatin interaction
ENSG00000134453	Chromatin interaction
ENSG00000170525	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12569573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12569593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12572456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12573360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12573756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12573767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3814193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3814194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41295145	1.00[AFR][1000 genomes]
rs41295357	1.00[AFR][1000 genomes]
rs616159	0.94[ASN][1000 genomes]
rs674399	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72478269	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1040721	chr10:6155144-6322566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv540476	chr10:6155144-6322566	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh 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	40 gene(s)	inside rSNPs	diseases
6	nsv894817	chr10:6173416-6251252	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 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	chr10:6188400-6225200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:6190200-6204400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:6190600-6205200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr10:6193400-6205200	Weak transcription	Esophagus	oesophagus
5	chr10:6193600-6204800	Weak transcription	Gastric	stomach
6	chr10:6193600-6204800	Weak transcription	Right Ventricle	heart
7	chr10:6193600-6205200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:6193600-6205400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr10:6193800-6204600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr10:6193800-6204600	Weak transcription	Fetal Intestine Small	intestine
11	chr10:6193800-6204600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr10:6193800-6204600	Weak transcription	Pancreas	Pancrea
13	chr10:6193800-6204800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr10:6193800-6205400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:6194000-6204600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr10:6194200-6204400	Weak transcription	Primary T cells from cord blood	blood
17	chr10:6194200-6204600	Weak transcription	Thymus	Thymus
18	chr10:6194400-6205400	Weak transcription	Lung	lung
19	chr10:6194800-6204600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr10:6195600-6204600	Weak transcription	Fetal Muscle Leg	muscle
21	chr10:6195600-6204600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr10:6196200-6204600	Weak transcription	Adipose Nuclei	Adipose
23	chr10:6196200-6204800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:6196800-6204600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr10:6196800-6204800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr10:6197000-6204600	Weak transcription	Fetal Stomach	stomach
27	chr10:6197000-6204800	Weak transcription	Spleen	Spleen
28	chr10:6197000-6205000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr10:6199800-6204600	Weak transcription	Osteobl	bone
30	chr10:6200000-6204600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr10:6200400-6205000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr10:6200600-6204600	Weak transcription	NHLF	lung
33	chr10:6200600-6205000	Weak transcription	HSMM	muscle
34	chr10:6200600-6205000	Weak transcription	NH-A	brain
35	chr10:6201000-6204400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:6201000-6204400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr10:6201000-6204600	Weak transcription	HUVEC	blood vessel
38	chr10:6202600-6204600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr10:6202600-6204600	Weak transcription	GM12878-XiMat	blood
40	chr10:6203200-6205200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr10:6203600-6205000	Enhancers	Brain Hippocampus Middle	brain
42	chr10:6203600-6205200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr10:6203600-6205400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr10:6203600-6205400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr10:6203800-6204600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr10:6203800-6204800	Enhancers	Brain Anterior Caudate	brain
47	chr10:6203800-6205000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr10:6203800-6205400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr10:6204000-6204600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr10:6204000-6204600	Enhancers	Brain Substantia Nigra	brain

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