Variant report

Variant	rs57221255
Chromosome Location	chr1:197870956-197870957
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZMIZ1	chr1:197870911-197871055	K562	blood:	n/a	n/a
2	POLR2A	chr1:197870895-197872589	Raji	blood:	n/a	n/a
3	POLR2A	chr1:197870139-197873102	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr1:197870323-197871429	K562	blood:	n/a	n/a
5	POLR2A	chr1:197870888-197872376	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:197870880-197872744	K562	blood:	n/a	n/a
7	CUX1	chr1:197870814-197871469	K562	blood:	n/a	n/a
8	POLR2A	chr1:197870118-197872970	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr1:197870797-197872383	HepG2	liver:	n/a	n/a
10	MAZ	chr1:197870914-197872657	IMR90	lung:	n/a	n/a
11	GTF2F1	chr1:197870836-197872718	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:197870867-197872504	GM12891	blood:	n/a	n/a
13	POLR2A	chr1:197870904-197872530	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr1:197870593-197872849	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr1:197870933-197872422	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:197742347..197745266-chr1:197870109..197873225,5	MCF-7	breast:
2	chr1:197869855..197872200-chr1:198125548..198128117,2	MCF-7	breast:
3	chr1:197852642..197855916-chr1:197868509..197871754,4	K562	blood:
4	chr1:197854984..197856657-chr1:197868771..197871042,2	MCF-7	breast:
5	chr1:197837094..197838066-chr1:197870113..197870986,2	MCF-7	breast:
6	chr1:197846538..197849323-chr1:197868745..197871219,2	K562	blood:
7	chr1:197743169..197745443-chr1:197870802..197873145,4	MCF-7	breast:
8	chr1:197870101..197873220-chr1:197881150..197886265,4	MCF-7	breast:
9	chr1:197868383..197873929-chr1:197879774..197886951,11	K562	blood:
10	chr1:197589072..197591210-chr1:197869389..197871668,2	MCF-7	breast:
11	chr1:197740776..197744504-chr1:197869951..197872253,3	K562	blood:

No data

Variant related genes	Relation type
C1orf53	TF binding region
ENSG00000213047	Chromatin interaction
ENSG00000151414	Chromatin interaction
ENSG00000143355	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs55828314	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55873850	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57319710	1.00[AMR][1000 genomes]
rs57805974	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58603417	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58959432	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59396394	1.00[AMR][1000 genomes]
rs59498839	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60873643	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60890417	1.00[AMR][1000 genomes]
rs61374501	1.00[AMR][1000 genomes]
rs74134509	1.00[AMR][1000 genomes]
rs74134865	1.00[AMR][1000 genomes]
rs74134866	1.00[AMR][1000 genomes]
rs74134867	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134869	1.00[AMR][1000 genomes]
rs74134870	1.00[AMR][1000 genomes]
rs74134873	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134874	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134877	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134878	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74137407	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74137409	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999662	chr1:197821769-197892803	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	esv2762214	chr1:197821769-197897496	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
3	nsv1004130	chr1:197822757-197879728	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197870800-197871000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:197870800-197871000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr1:197870800-197871000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
4	chr1:197870800-197871000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
5	chr1:197870800-197871000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:197870800-197871000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:197870800-197871000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:197870800-197871000	Enhancers	Primary T cells from cord blood	blood
9	chr1:197870800-197871000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:197870800-197871000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:197870800-197871000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:197870800-197871000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:197870800-197871000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:197870800-197871000	Active TSS	Liver	Liver
15	chr1:197870800-197871000	Enhancers	Brain Angular Gyrus	brain
16	chr1:197870800-197871000	Enhancers	Brain Germinal Matrix	brain
17	chr1:197870800-197871000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr1:197870800-197871000	Enhancers	Colon Smooth Muscle	Colon
19	chr1:197870800-197871000	Enhancers	Fetal Brain Female	brain
20	chr1:197870800-197871000	Enhancers	Psoas Muscle	Psoas
21	chr1:197870800-197871000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr1:197870800-197871000	Enhancers	HMEC	breast
23	chr1:197870800-197871000	Enhancers	K562	blood
24	chr1:197870800-197871000	Enhancers	Osteobl	bone
25	chr1:197870800-197871200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:197870800-197871200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr1:197870800-197871200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
28	chr1:197870800-197871200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr1:197870800-197871200	Enhancers	Rectal Smooth Muscle	rectum
30	chr1:197870800-197871200	Enhancers	HepG2	liver
31	chr1:197870800-197871400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:197870800-197871400	Flanking Active TSS	A549	lung
33	chr1:197870800-197871400	Flanking Active TSS	Dnd41	blood
34	chr1:197870800-197871400	Flanking Active TSS	Hela-S3	cervix
35	chr1:197870800-197872000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:197870800-197872800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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