Variant report

Variant	rs55817049
Chromosome Location	chr1:180473080-180473081
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr1:180470775-180473181	SK-N-SH	brain:	n/a	chr1:180471543-180471552
2	HCFC1	chr1:180470720-180473111	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:180470531..180473320-chr1:180599332..180602016,2	K562	blood:
2	chr1:180472105..180473813-chr1:181057993..181060465,2	K562	blood:
3	chr1:180470493..180473506-chr1:180597830..180602116,4	MCF-7	breast:
4	chr1:180470101..180473441-chr1:181055955..181060608,7	K562	blood:
5	chr1:180471844..180473549-chr1:182806960..182809531,2	MCF-7	breast:
6	chr1:180472964..180474571-chr1:180490356..180493108,2	MCF-7	breast:
7	chr1:180470962..180473881-chr1:180832608..180834765,2	MCF-7	breast:
8	chr1:179869245..179870791-chr1:180471258..180473082,2	MCF-7	breast:

No data

Variant related genes	Relation type
ACBD6	TF binding region
ENSG00000264916	Chromatin interaction
ENSG00000135829	Chromatin interaction
ENSG00000162783	Chromatin interaction
ENSG00000272198	Chromatin interaction
ENSG00000143324	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10913962	0.84[AFR][1000 genomes]
rs55723772	1.00[AFR][1000 genomes]
rs55823559	1.00[AFR][1000 genomes]
rs55952863	1.00[AFR][1000 genomes]
rs56081661	1.00[AFR][1000 genomes]
rs56120807	0.84[AFR][1000 genomes]
rs56395008	1.00[AFR][1000 genomes]
rs57115648	1.00[AFR][1000 genomes]
rs57226792	1.00[AFR][1000 genomes]
rs57465003	1.00[AFR][1000 genomes]
rs57757716	1.00[AFR][1000 genomes]
rs57897169	1.00[AFR][1000 genomes]
rs58105846	1.00[AFR][1000 genomes]
rs58275341	0.91[AFR][1000 genomes]
rs58386646	1.00[AFR][1000 genomes]
rs58483603	1.00[AFR][1000 genomes]
rs58521362	1.00[AFR][1000 genomes]
rs58565991	1.00[AFR][1000 genomes]
rs58613938	1.00[AFR][1000 genomes]
rs59083148	1.00[AFR][1000 genomes]
rs59378647	0.91[AFR][1000 genomes]
rs59702178	1.00[AFR][1000 genomes]
rs59752237	1.00[AFR][1000 genomes]
rs60449684	1.00[AFR][1000 genomes]
rs61508057	1.00[AFR][1000 genomes]
rs61647778	1.00[AFR][1000 genomes]
rs61694354	1.00[AFR][1000 genomes]
rs74132469	1.00[AFR][1000 genomes]
rs74132470	1.00[AFR][1000 genomes]
rs74132471	1.00[AFR][1000 genomes]
rs74132474	1.00[AFR][1000 genomes]
rs74132479	1.00[AFR][1000 genomes]
rs74132480	1.00[AFR][1000 genomes]
rs74132806	1.00[AFR][1000 genomes]
rs74132809	1.00[AFR][1000 genomes]
rs74132812	1.00[AFR][1000 genomes]
rs74132839	1.00[AFR][1000 genomes]
rs74132840	1.00[AFR][1000 genomes]
rs74132841	1.00[AFR][1000 genomes]
rs74132842	1.00[AFR][1000 genomes]
rs74132843	1.00[AFR][1000 genomes]
rs74132847	1.00[AFR][1000 genomes]
rs74132848	1.00[AFR][1000 genomes]
rs74132850	1.00[AFR][1000 genomes]
rs74132906	1.00[AFR][1000 genomes]
rs74132908	1.00[AFR][1000 genomes]
rs74132909	1.00[AFR][1000 genomes]
rs74132910	1.00[AFR][1000 genomes]
rs74132913	1.00[AFR][1000 genomes]
rs74132916	1.00[AFR][1000 genomes]
rs74132920	1.00[AFR][1000 genomes]
rs74132948	0.91[AFR][1000 genomes]
rs74135060	1.00[AFR][1000 genomes]
rs74135187	1.00[AFR][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	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1013716	chr1:180287338-180477072	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv535221	chr1:180287338-180477072	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
5	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
6	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
7	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180472400-180477600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:180472400-180481400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:180472600-180474400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:180472600-180477000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:180472800-180473200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:180472800-180473200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:180472800-180473200	Enhancers	Primary hematopoietic stem cells	blood
8	chr1:180472800-180473200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:180472800-180473600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:180472800-180474200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:180472800-180474400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:180472800-180475000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:180472800-180475200	Weak transcription	NH-A	brain
14	chr1:180472800-180477200	Weak transcription	Brain Substantia Nigra	brain
15	chr1:180472800-180488800	Weak transcription	Right Atrium	heart
16	chr1:180473000-180473400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:180473000-180473400	Enhancers	HUVEC	blood vessel
18	chr1:180473000-180473400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr1:180473000-180473600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:180473000-180473600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:180473000-180473600	Enhancers	HMEC	breast
22	chr1:180473000-180473600	Enhancers	NHLF	lung
23	chr1:180473000-180473800	Enhancers	Hela-S3	cervix
24	chr1:180473000-180474800	Weak transcription	Osteobl	bone
25	chr1:180473000-180475000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:180473000-180475000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:180473000-180475000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:180473000-180475000	Weak transcription	NHDF-Ad	bronchial
29	chr1:180473000-180475200	Weak transcription	A549	lung
30	chr1:180473000-180476800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:180473000-180476800	Weak transcription	K562	blood
32	chr1:180473000-180477600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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