Variant report

Variant	rs61776042
Chromosome Location	chr1:10531428-10531429
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr1:10531313-10532006	K562	blood:	n/a	n/a
2	MXI1	chr1:10531235-10533216	IMR90	lung:	n/a	n/a
3	POLR2A	chr1:10531155-10531515	MCF10A-Er-Src	breast:	n/a	n/a
4	MXI1	chr1:10531107-10533239	SK-N-SH	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10528950..10534210-chr1:10534257..10537658,6	K562	blood:
2	chr1:10457403..10461622-chr1:10531171..10536559,7	K562	blood:
3	chr1:10527253..10528797-chr1:10530391..10532152,2	MCF-7	breast:
4	chr1:10489993..10493018-chr1:10531254..10535234,5	MCF-7	breast:
5	chr1:10488008..10492443-chr1:10531123..10534892,8	K562	blood:
6	chr1:10508957..10511140-chr1:10530246..10532667,2	K562	blood:

No data

Variant related genes	Relation type
PEX14	TF binding region
ENSG00000251503	Chromatin interaction
ENSG00000175279	Chromatin interaction
ENSG00000142655	Chromatin interaction
ENSG00000142657	Chromatin interaction
ENSG00000241563	Chromatin interaction
ENSG00000271989	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2274986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28663566	0.85[EUR][1000 genomes]
rs57986045	0.86[EUR][1000 genomes]
rs61776015	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61776020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61776039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61776041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61776043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61776045	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61776260	0.86[EUR][1000 genomes]
rs61776261	0.86[EUR][1000 genomes]
rs61777205	0.86[EUR][1000 genomes]
rs61777209	0.86[EUR][1000 genomes]
rs6540934	0.86[EUR][1000 genomes]
rs6540935	0.86[EUR][1000 genomes]
rs6668910	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6679456	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680568	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534960	0.86[EUR][1000 genomes]
rs7551790	0.86[EUR][1000 genomes]
rs9661820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr1:10510600-10531600	Weak transcription	Right Atrium	heart
2	chr1:10511600-10531600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:10517400-10531600	Weak transcription	Fetal Heart	heart
4	chr1:10526800-10531600	Weak transcription	Fetal Kidney	kidney
5	chr1:10528600-10531600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:10528600-10531800	Weak transcription	Aorta	Aorta
7	chr1:10529200-10531600	Weak transcription	Colonic Mucosa	Colon
8	chr1:10529200-10531800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:10529400-10531600	Weak transcription	Right Ventricle	heart
10	chr1:10529400-10531800	Weak transcription	Esophagus	oesophagus
11	chr1:10529400-10531800	Weak transcription	Ovary	ovary
12	chr1:10529400-10531800	Weak transcription	HSMMtube	muscle
13	chr1:10529400-10532000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:10529600-10531600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:10529600-10531600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:10529600-10531800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:10529600-10531800	Weak transcription	HSMM	muscle
18	chr1:10529800-10531800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:10530400-10531800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:10531200-10531600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:10531200-10531600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:10531200-10531600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr1:10531200-10531600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr1:10531200-10531600	Enhancers	Liver	Liver
25	chr1:10531200-10531600	Enhancers	Brain Cingulate Gyrus	brain
26	chr1:10531200-10531600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr1:10531200-10531600	Enhancers	Brain Substantia Nigra	brain
28	chr1:10531200-10531600	Enhancers	Fetal Intestine Large	intestine
29	chr1:10531200-10531600	Enhancers	Fetal Intestine Small	intestine
30	chr1:10531200-10531600	Enhancers	Placenta	Placenta
31	chr1:10531200-10531600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr1:10531200-10531600	Enhancers	HepG2	liver
33	chr1:10531200-10531800	Enhancers	Primary B cells from peripheral blood	blood
34	chr1:10531200-10531800	Enhancers	Primary T cells from cord blood	blood
35	chr1:10531200-10531800	Enhancers	Primary T cells fromperipheralblood	blood
36	chr1:10531200-10531800	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr1:10531200-10531800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr1:10531200-10531800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:10531200-10531800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr1:10531200-10531800	Enhancers	Fetal Muscle Leg	muscle
41	chr1:10531200-10531800	Enhancers	Fetal Thymus	thymus
42	chr1:10531200-10531800	Enhancers	Lung	lung
43	chr1:10531200-10531800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr1:10531200-10531800	Flanking Active TSS	Hela-S3	cervix
45	chr1:10531200-10532000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:10531200-10532000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:10531200-10532000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:10531200-10532000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:10531200-10532000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:10531200-10532000	Flanking Active TSS	Brain Hippocampus Middle	brain

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