Variant report

Variant	rs60411265
Chromosome Location	chr6:28130275-28130276
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT1	chr6:28130147-28130711	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr6:28130201-28130323	MCF10A-Er-Src	breast:	n/a	n/a
3	USF1	chr6:28130084-28130386	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28109577..28112061-chr6:28128257..28130394,3	MCF-7	breast:
2	chr17:73851685..73852659-chr6:28129475..28130353,2	Hela-S3	cervix:
3	chr6:28129539..28132293-chr6:28218155..28220468,2	K562	blood:
4	chr6:28126892..28131515-chr6:28301205..28304944,6	K562	blood:
5	chr6:27775710..27777880-chr6:28129434..28132036,2	K562	blood:
6	chr6:28127970..28130555-chr6:28316475..28318965,2	K562	blood:
7	chr6:28129397..28131360-chr6:28191862..28193480,2	K562	blood:
8	chr6:27857955..27860857-chr6:28129284..28131805,2	K562	blood:

No data

Variant related genes	Relation type
ZNF192P1	TF binding region
ENSG00000235109	Chromatin interaction
ENSG00000137185	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000189298	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000187626	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000132471	Chromatin interaction
ENSG00000198315	Chromatin interaction

rs_ID	r²[population]
rs2223287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57935190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59433398	1.00[AMR][1000 genomes]
rs62638674	0.83[AFR][1000 genomes]
rs73385824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73385839	1.00[AMR][1000 genomes]
rs73394737	1.00[AMR][1000 genomes]
rs73394738	1.00[AMR][1000 genomes]
rs73394747	1.00[AMR][1000 genomes]
rs73394789	1.00[AMR][1000 genomes]
rs73396511	1.00[AMR][1000 genomes]
rs73398549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399679	0.83[AFR][1000 genomes]
rs73400511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400554	1.00[AMR][1000 genomes]
rs73400574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402529	1.00[AMR][1000 genomes]
rs73402530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402536	1.00[AMR][1000 genomes]
rs7767244	1.00[AMR][1000 genomes]

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28127000-28134200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:28129000-28130400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:28129000-28130400	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr6:28129000-28130400	Active TSS	Psoas Muscle	Psoas
5	chr6:28129000-28130400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr6:28129000-28130600	Active TSS	GM12878-XiMat	blood
7	chr6:28129200-28130400	Active TSS	Rectal Smooth Muscle	rectum
8	chr6:28129600-28130400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:28129800-28130400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:28129800-28134000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr6:28129800-28138800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:28129800-28142200	Weak transcription	Aorta	Aorta
13	chr6:28129800-28145400	Weak transcription	Brain Angular Gyrus	brain
14	chr6:28130000-28130400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:28130000-28130400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:28130000-28130400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:28130000-28130400	Enhancers	Fetal Muscle Leg	muscle
18	chr6:28130000-28130400	Enhancers	Ovary	ovary
19	chr6:28130000-28130400	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr6:28130000-28130400	Flanking Active TSS	HepG2	liver
21	chr6:28130000-28130600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr6:28130000-28130600	Enhancers	Brain Germinal Matrix	brain
23	chr6:28130000-28130600	Flanking Active TSS	Dnd41	blood
24	chr6:28130000-28130600	Enhancers	Hela-S3	cervix
25	chr6:28130000-28130800	Flanking Active TSS	K562	blood
26	chr6:28130000-28136000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:28130000-28136200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:28130000-28136800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr6:28130000-28139000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:28130000-28141400	Weak transcription	Right Ventricle	heart
31	chr6:28130000-28142600	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:28130200-28130400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:28130200-28130400	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr6:28130200-28130400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr6:28130200-28130400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr6:28130200-28130400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:28130200-28130400	Enhancers	Colon Smooth Muscle	Colon
38	chr6:28130200-28130400	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr6:28130200-28130600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr6:28130200-28130600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:28130200-28130600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr6:28130200-28132800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr6:28130200-28132800	Weak transcription	Right Atrium	heart
44	chr6:28130200-28134400	Weak transcription	Liver	Liver
45	chr6:28130200-28134400	Weak transcription	Osteobl	bone
46	chr6:28130200-28134600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:28130200-28134600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:28130200-28134600	Weak transcription	HSMMtube	muscle
49	chr6:28130200-28135400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr6:28130200-28136200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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