Variant report

Variant	rs556337662
Chromosome Location	chr1:165796394-165796395
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr1:165795790-165799461	SK-N-SH	brain:	n/a	n/a
2	CUX1	chr1:165795973-165796565	K562	blood:	n/a	n/a
3	NFYB	chr1:165796317-165796990	Hela-S3	cervix:	n/a	n/a
4	MXI1	chr1:165796090-165799083	IMR90	lung:	n/a	n/a
5	MYC	chr1:165796227-165798863	K562	blood:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
6	CTCF	chr1:165796360-165796510	GM06990	blood:	n/a	n/a
7	MAX	chr1:165796280-165798705	A549	lung:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
8	YY1	chr1:165796174-165796430	GM12878	blood:	n/a	chr1:165796332-165796343
9	RCOR1	chr1:165796312-165798730	Hela-S3	cervix:	n/a	n/a
10	GATA3	chr1:165796059-165796568	SH-SY5Y	brain:	n/a	chr1:165796537-165796544 chr1:165796555-165796565 chr1:165796530-165796551 chr1:165796537-165796544 chr1:165796537-165796544 chr1:165796268-165796278
11	MAX	chr1:165796172-165798632	GM12878	blood:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
12	CTCF	chr1:165796380-165796530	NHDF-neo	bronchial:	n/a	n/a
13	MYC	chr1:165796283-165799081	MCF10A-Er-Src	breast:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
14	GATA1	chr1:165796191-165799199	PBDE	blood:	n/a	chr1:165796537-165796544 chr1:165796555-165796565 chr1:165796530-165796551 chr1:165796537-165796544 chr1:165796537-165796544 chr1:165796268-165796278
15	REST	chr1:165795832-165798785	H1-neurons	neurons:	n/a	chr1:165797611-165797624 chr1:165797587-165797600 chr1:165797285-165797295 chr1:165797599-165797612
16	JUND	chr1:165796382-165798569	K562	blood:	n/a	chr1:165796555-165796564 chr1:165797411-165797425
17	CUX1	chr1:165796256-165796524	GM12878	blood:	n/a	n/a
18	NFYB	chr1:165796206-165797191	GM12878	blood:	n/a	n/a
19	ZNF143	chr1:165796298-165798486	GM12878	blood:	n/a	chr1:165797007-165797017
20	E2F6	chr1:165796162-165798495	K562	blood:	n/a	chr1:165797654-165797666 chr1:165797013-165797022 chr1:165797007-165797016 chr1:165798240-165798251 chr1:165798235-165798250 chr1:165796975-165796985
21	RCOR1	chr1:165796074-165797386	GM12878	blood:	n/a	n/a
22	E2F6	chr1:165796348-165798614	A549	lung:	n/a	chr1:165797654-165797666 chr1:165797013-165797022 chr1:165797007-165797016 chr1:165798240-165798251 chr1:165798235-165798250 chr1:165796975-165796985
23	MAZ	chr1:165795817-165798746	IMR90	lung:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
24	RELA	chr1:165796112-165798570	GM15510	blood:	n/a	chr1:165796339-165796348 chr1:165796339-165796348
25	MYC	chr1:165796368-165798915	K562	blood:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
26	MAZ	chr1:165796192-165798454	GM12878	blood:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
27	CHD1	chr1:165796053-165799451	IMR90	lung:	n/a	chr1:165797014-165797024 chr1:165796765-165796775 chr1:165797585-165797595 chr1:165797665-165797675

No.	Distal block	Cell Line	Cell type
1	chr1:165735886..165744990-chr1:165791702..165805629,42	K562	blood:
2	chr1:165666281..165669188-chr1:165795955..165797975,3	MCF-7	breast:
3	chr1:165795265..165796893-chr1:166808551..166810494,2	K562	blood:
4	chr1:165795600..165798299-chr1:165863664..165866486,4	MCF-7	breast:
5	chr1:165599775..165601444-chr1:165795750..165798255,2	K562	blood:
6	chr1:165735066..165739781-chr1:165794447..165799093,13	MCF-7	breast:
7	chr1:165736117..165742504-chr1:165795129..165799551,11	MCF-7	breast:
8	chr1:165795614..165797230-chr19:573717..575318,2	K562	blood:
9	chr1:165795260..165799386-chr1:165863983..165867487,4	K562	blood:
10	chr1:165564921..165568209-chr1:165795710..165798284,3	K562	blood:
11	chr1:165736523..165741866-chr1:165791420..165802380,26	K562	blood:
12	chr1:165598109..165601268-chr1:165795469..165798298,3	MCF-7	breast:

Variant related genes	Relation type
UCK2	TF binding region
ENSG00000143179	Chromatin interaction
ENSG00000215838	Chromatin interaction
ENSG00000143149	Chromatin interaction
ENSG00000172270	Chromatin interaction
ENSG00000224358	Chromatin interaction
ENSG00000143198	Chromatin interaction
ENSG00000236206	Chromatin interaction
ENSG00000143183	Chromatin interaction
ENSG00000143157	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription 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 target site	41 gene(s)	inside rSNPs	diseases
3	nsv517792	chr1:165785503-165811729	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
4	esv2830094	chr1:165785503-165840411	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
5	esv3357226	chr1:165795953-165798501	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165790800-165796800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:165793800-165796400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:165795800-165796400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:165795800-165796400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:165795800-165796400	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:165795800-165796600	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr1:165796000-165796400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:165796000-165796400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:165796000-165796400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:165796000-165796400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:165796000-165796400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr1:165796000-165796400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:165796000-165796400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:165796000-165796400	Enhancers	Liver	Liver
15	chr1:165796000-165796400	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr1:165796000-165796400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:165796000-165796400	Enhancers	Psoas Muscle	Psoas
18	chr1:165796000-165796400	Flanking Bivalent TSS/Enh	HepG2	liver
19	chr1:165796000-165796600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:165796000-165796600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr1:165796000-165796600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr1:165796000-165796600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:165796000-165796600	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr1:165796000-165796600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr1:165796000-165796600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:165796000-165796600	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr1:165796000-165796600	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr1:165796000-165796600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr1:165796000-165796600	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr1:165796000-165796600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr1:165796000-165796600	Flanking Active TSS	Hela-S3	cervix
32	chr1:165796000-165796600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr1:165796000-165796600	Flanking Active TSS	NH-A	brain
34	chr1:165796000-165796600	Flanking Active TSS	NHLF	lung
35	chr1:165796000-165796800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:165796000-165796800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:165796000-165796800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:165796000-165797000	Enhancers	Fetal Heart	heart
39	chr1:165796000-165798800	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr1:165796000-165799200	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr1:165796200-165796400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr1:165796200-165796400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:165796200-165796400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr1:165796200-165796400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:165796200-165796400	Enhancers	Primary T cells fromperipheralblood	blood
46	chr1:165796200-165796400	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr1:165796200-165796400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr1:165796200-165796400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr1:165796200-165796400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:165796200-165796400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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