Variant report

Variant	rs55823559
Chromosome Location	chr1:180471841-180471842
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:180471319..180472285-chr14:58764326..58765268,2	HCT-116	colon:
2	chr1:180471512..180472487-chr10:43133374..43134249,2	Hela-S3	cervix:
3	chr1:180470530..180472800-chr1:181059348..181062070,2	MCF-7	breast:
4	chr1:180470531..180473320-chr1:180599332..180602016,2	K562	blood:
5	chr1:180469616..180471969-chr1:181074123..181075942,2	K562	blood:
6	chr1:180470764..180472384-chr1:180991464..180993107,2	MCF-7	breast:
7	chr1:180469285..180472037-chr1:180483861..180487907,3	K562	blood:
8	chr1:180471385..180471992-chr11:75526277..75527013,2	Hela-S3	cervix:
9	chr1:179922809..179925375-chr1:180469288..180472844,3	MCF-7	breast:
10	chr1:180471338..180472139-chr6:83775275..83775844,2	HCT-116	colon:
11	chr1:180471522..180472122-chr6:74230156..74230869,2	Hela-S3	cervix:
12	chr1:180471479..180472325-chrX:47003829..47004564,2	NB4	blood:
13	chr1:180470493..180473506-chr1:180597830..180602116,4	MCF-7	breast:
14	chr1:180471539..180472351-chrX:48755095..48755718,3	Hela-S3	cervix:
15	chr1:180438874..180441365-chr1:180469997..180471942,2	K562	blood:
16	chr1:180208860..180211195-chr1:180470402..180471972,2	MCF-7	breast:
17	chr1:180471529..180472105-chr10:121410312..121411221,2	Hela-S3	cervix:
18	chr1:180471780..180472722-chr21:36260550..36261373,2	Hela-S3	cervix:
19	chr1:180470101..180473441-chr1:181055955..181060608,7	K562	blood:
20	chr1:180471480..180472055-chr17:1933385..1933909,2	Hela-S3	cervix:
21	chr1:26946776..26947655-chr1:180471491..180472081,2	Hela-S3	cervix:
22	chr1:180139648..180141218-chr1:180469440..180471988,2	MCF-7	breast:
23	chr1:180470305..180472005-chr1:180744201..180746153,2	K562	blood:
24	chr1:151882046..151882716-chr1:180471383..180472027,2	Hela-S3	cervix:
25	chr1:180470474..180472036-chr1:181074031..181076331,2	K562	blood:
26	chr1:145382428..145382959-chr1:180471816..180472628,2	Hela-S3	cervix:
27	chr1:180471314..180471915-chr12:22696903..22697476,2	HCT-116	colon:
28	chr1:180470962..180473881-chr1:180832608..180834765,2	MCF-7	breast:
29	chr1:180197528..180200245-chr1:180468948..180472883,3	MCF-7	breast:
30	chr1:180471290..180472273-chr6:3068771..3069569,2	Hela-S3	cervix:
31	chr1:179869245..179870791-chr1:180471258..180473082,2	MCF-7	breast:
32	chr1:180471263..180471935-chr17:57920224..57921207,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000126768	Chromatin interaction
ENSG00000118420	Chromatin interaction
ENSG00000257621	Chromatin interaction
ENSG00000102103	Chromatin interaction
ENSG00000108963	Chromatin interaction
ENSG00000182872	Chromatin interaction
ENSG00000135837	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000143324	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000272277	Chromatin interaction
ENSG00000233396	Chromatin interaction
ENSG00000196693	Chromatin interaction
ENSG00000255507	Chromatin interaction
ENSG00000264916	Chromatin interaction
ENSG00000111731	Chromatin interaction
ENSG00000147123	Chromatin interaction
ENSG00000272373	Chromatin interaction
ENSG00000139971	Chromatin interaction
ENSG00000135823	Chromatin interaction
ENSG00000121454	Chromatin interaction
ENSG00000032219	Chromatin interaction
ENSG00000260360	Chromatin interaction
ENSG00000159216	Chromatin interaction
ENSG00000162783	Chromatin interaction
ENSG00000151929	Chromatin interaction
ENSG00000272198	Chromatin interaction
ENSG00000159445	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]
rs55817049	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180468200-180472600	Active TSS	GM12878-XiMat	blood
2	chr1:180470000-180472200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:180470000-180472200	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr1:180470000-180472800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:180470200-180472200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr1:180470200-180472200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr1:180470200-180472400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr1:180470200-180472400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr1:180470200-180472400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:180470200-180472400	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr1:180470200-180472600	Active TSS	Fetal Kidney	kidney
12	chr1:180470200-180472600	Active TSS	Fetal Lung	lung
13	chr1:180470200-180472800	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr1:180470400-180472200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:180470400-180472400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr1:180470400-180472400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:180470400-180472400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:180470400-180472400	Active TSS	Rectal Smooth Muscle	rectum
19	chr1:180470400-180472400	Active TSS	HSMMtube	muscle
20	chr1:180470400-180472400	Active TSS	K562	blood
21	chr1:180470400-180472400	Active TSS	NHLF	lung
22	chr1:180470400-180472600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:180470400-180472600	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr1:180470400-180472600	Active TSS	Right Ventricle	heart
25	chr1:180470400-180472600	Active TSS	A549	lung
26	chr1:180470400-180472600	Active TSS	NHDF-Ad	bronchial
27	chr1:180470400-180472800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:180470400-180472800	Active TSS	HSMM	muscle
29	chr1:180470600-180472200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:180470600-180472200	Active TSS	HMEC	breast
31	chr1:180470600-180472400	Active TSS	H9 Cell Line	embryonic stem cell
32	chr1:180470600-180472400	Active TSS	Muscle Satellite Cultured Cells	--
33	chr1:180470600-180472400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:180470600-180472400	Active TSS	NH-A	brain
35	chr1:180470600-180472600	Active TSS	Fetal Intestine Small	intestine
36	chr1:180470600-180472800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:180470800-180472000	Active TSS	Placenta	Placenta
38	chr1:180470800-180472200	Active TSS	HUVEC	blood vessel
39	chr1:180470800-180472400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:180470800-180472400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:180470800-180472400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:180470800-180472400	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr1:180470800-180472400	Active TSS	Fetal Muscle Leg	muscle
44	chr1:180470800-180472400	Active TSS	NHEK	skin
45	chr1:180470800-180472600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:180470800-180472600	Active TSS	Fetal Intestine Large	intestine
47	chr1:180470800-180472800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:180470800-180472800	Active TSS	Brain Germinal Matrix	brain
49	chr1:180470800-180472800	Active TSS	Brain Hippocampus Middle	brain
50	chr1:180470800-180472800	Active TSS	Fetal Muscle Trunk	muscle

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