Variant report

Variant	rs13190879
Chromosome Location	chr6:149383879-149383880
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr6:149383621-149384400	GM12878	blood:	n/a	n/a
2	EBF1	chr6:149383836-149384794	GM12878	blood:	n/a	chr6:149384264-149384273 chr6:149384264-149384273 chr6:149384262-149384273 chr6:149384263-149384273 chr6:149384262-149384275
3	MXI1	chr6:149383669-149383910	GM12878	blood:	n/a	n/a
4	POLR2A	chr6:149381247-149384195	GM12878	blood:	n/a	n/a
5	POLR2A	chr6:149383830-149384256	GM12878	blood:	n/a	n/a
6	MAZ	chr6:149383590-149383962	GM12878	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:149381576..149384224-chr6:149749932..149753109,3	MCF-7	breast:
2	chr6:149383501..149385674-chr6:149388993..149391805,2	K562	blood:
3	chr6:149347925..149355177-chr6:149378699..149385191,19	MCF-7	breast:
4	chr6:149367003..149368694-chr6:149381006..149384562,3	K562	blood:
5	chr6:149376456..149387248-chr6:149393069..149406749,44	MCF-7	breast:
6	chr6:149382098..149384824-chr6:149641581..149643098,2	MCF-7	breast:
7	chr6:149383326..149385978-chr6:149822230..149824541,2	K562	blood:
8	chr6:149364981..149368017-chr6:149381154..149384452,3	MCF-7	breast:
9	chr6:149373800..149377779-chr6:149379783..149384195,7	MCF-7	breast:
10	chr6:149380862..149385743-chr6:149637114..149641554,7	MCF-7	breast:
11	chr6:149378324..149381149-chr6:149381718..149384310,2	K562	blood:

No data

Variant related genes	Relation type
UST	TF binding region
ENSG00000236591	Chromatin interaction
ENSG00000055208	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10457075	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10457839	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10499251	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12153925	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12197040	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12200909	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12202158	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12206419	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1316376	0.84[EUR][1000 genomes]
rs13217006	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17669546	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1890610	0.84[EUR][1000 genomes]
rs1890612	0.84[EUR][1000 genomes]
rs1934221	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1934222	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1934223	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2153251	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2153252	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2185250	0.84[EUR][1000 genomes]
rs34118116	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34599887	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3949414	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4313020	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4332004	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4336467	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4441968	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4454159	0.83[EUR][1000 genomes]
rs6570923	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6570924	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6570926	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6570927	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6570932	0.84[EUR][1000 genomes]
rs6901626	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6902195	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6902487	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6909624	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6914281	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6914318	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6914925	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6917010	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6924503	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6930713	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6932773	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6940664	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6940915	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7762928	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7773409	0.84[EUR][1000 genomes]
rs9322165	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9485353	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9498197	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9498199	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9498201	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9498202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9498204	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9498205	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9498207	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032690	chr6:149206106-149398712	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv830842	chr6:149272321-149427340	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149354400-149400600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:149362600-149385200	Weak transcription	Aorta	Aorta
3	chr6:149362800-149401400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:149363200-149394000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:149369000-149398800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:149371400-149396400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:149371800-149397000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:149375800-149384000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:149379200-149385000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr6:149379400-149384200	Enhancers	Placenta	Placenta
11	chr6:149379400-149388600	Enhancers	Fetal Thymus	thymus
12	chr6:149380200-149384000	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr6:149380200-149386000	Enhancers	HSMMtube	muscle
14	chr6:149380400-149385800	Enhancers	HSMM	muscle
15	chr6:149380400-149386600	Enhancers	GM12878-XiMat	blood
16	chr6:149380800-149387400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:149380800-149388400	Enhancers	Fetal Stomach	stomach
18	chr6:149380800-149396200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:149381000-149385400	Flanking Active TSS	Dnd41	blood
20	chr6:149381000-149394800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:149381000-149395000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:149381200-149385400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:149381400-149385400	Enhancers	Right Ventricle	heart
24	chr6:149381600-149385000	Enhancers	Right Atrium	heart
25	chr6:149381800-149384000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:149381800-149384000	Enhancers	Fetal Heart	heart
27	chr6:149381800-149384800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:149381800-149394600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr6:149382000-149384000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:149382000-149384000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:149382000-149384200	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:149382000-149387000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:149382200-149384000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:149382200-149384200	Enhancers	Brain Substantia Nigra	brain
35	chr6:149382200-149400000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:149382400-149384400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr6:149382400-149387000	Weak transcription	Primary B cells from cord blood	blood
38	chr6:149382400-149396000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr6:149382600-149384200	Weak transcription	Adipose Nuclei	Adipose
40	chr6:149382600-149385000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr6:149382600-149385200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr6:149382600-149386600	Weak transcription	Primary T cells from cord blood	blood
43	chr6:149382600-149387000	Weak transcription	Colonic Mucosa	Colon
44	chr6:149382800-149385200	Weak transcription	Colon Smooth Muscle	Colon
45	chr6:149382800-149385200	Weak transcription	Osteobl	bone
46	chr6:149382800-149385400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:149382800-149386000	Weak transcription	Liver	Liver
48	chr6:149382800-149386400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr6:149382800-149386600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr6:149382800-149387000	Weak transcription	Thymus	Thymus

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