Variant report

Variant	rs572109082
Chromosome Location	chr1:165796527-165796528
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	TRIM28	chr1:165796495-165797108	K562	blood:	n/a	n/a
2	MXI1	chr1:165795790-165799461	SK-N-SH	brain:	n/a	n/a
3	CUX1	chr1:165795973-165796565	K562	blood:	n/a	n/a
4	NFYB	chr1:165796317-165796990	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:165796463-165798522	PFSK-1	brain:	n/a	n/a
6	MXI1	chr1:165796090-165799083	IMR90	lung:	n/a	n/a
7	TEAD4	chr1:165796459-165797210	K562	blood:	n/a	n/a
8	TAF1	chr1:165796524-165798600	ECC-1	luminal epithelium:	n/a	n/a
9	CTCF	chr1:165796520-165796670	GM06990	blood:	n/a	n/a
10	CTCF	chr1:165796517-165796684	GM10248	blood:	n/a	n/a
11	POLR2A	chr1:165796513-165797255	U87	brain:	n/a	n/a
12	E2F6	chr1:165796518-165798608	H1-hESC	embryonic stem cell:	n/a	chr1:165797654-165797666 chr1:165797013-165797022 chr1:165797007-165797016 chr1:165798240-165798251 chr1:165798235-165798250 chr1:165796975-165796985
13	CTCF	chr1:165796500-165796650	Hela-S3	cervix:	n/a	n/a
14	MYC	chr1:165796227-165798863	K562	blood:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
15	UBTF	chr1:165796472-165798820	K562	blood:	n/a	n/a
16	CTCF	chr1:165796500-165796650	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr1:165796459-165797575	GM12878	blood:	n/a	n/a
18	HCFC1	chr1:165796510-165798726	K562	blood:	n/a	n/a
19	MAX	chr1:165796280-165798705	A549	lung:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
20	IRF1	chr1:165796469-165799244	K562	blood:	n/a	chr1:165797613-165797627 chr1:165798461-165798475 chr1:165798553-165798564
21	RCOR1	chr1:165796312-165798730	Hela-S3	cervix:	n/a	n/a
22	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
23	MAX	chr1:165796172-165798632	GM12878	blood:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
24	CTCF	chr1:165796380-165796530	NHDF-neo	bronchial:	n/a	n/a
25	CTCF	chr1:165796500-165796650	GM12878	blood:	n/a	n/a
26	MAX	chr1:165796473-165798730	K562	blood:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
27	MYC	chr1:165796283-165799081	MCF10A-Er-Src	breast:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
28	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
29	MAZ	chr1:165796483-165798402	HepG2	liver:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
30	CTCF	chr1:165796460-165796610	GM12801	blood:	n/a	n/a
31	CREB1	chr1:165796524-165797903	HepG2	liver:	n/a	n/a
32	REST	chr1:165795832-165798785	H1-neurons	neurons:	n/a	chr1:165797611-165797624 chr1:165797587-165797600 chr1:165797285-165797295 chr1:165797599-165797612
33	MYC	chr1:165796445-165798827	K562	blood:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
34	POLR2A	chr1:165796463-165798544	GM18505	blood:	n/a	n/a
35	JUND	chr1:165796382-165798569	K562	blood:	n/a	chr1:165796555-165796564 chr1:165797411-165797425
36	MAX	chr1:165796421-165798723	HCT-116	colon:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
37	RFX5	chr1:165796486-165798873	Hela-S3	cervix:	n/a	n/a
38	MYC	chr1:165796472-165798919	NB4	blood:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
39	POLR2A	chr1:165796432-165799115	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr1:165796500-165796650	GM12866	blood:	n/a	n/a
41	IRF1	chr1:165796490-165799135	K562	blood:	n/a	chr1:165797613-165797627 chr1:165798461-165798475 chr1:165798553-165798564
42	MAZ	chr1:165796470-165799022	K562	blood:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
43	NFYB	chr1:165796206-165797191	GM12878	blood:	n/a	n/a
44	SMC3	chr1:165796472-165796672	GM12878	blood:	n/a	n/a
45	SP1	chr1:165796517-165797150	A549	lung:	n/a	chr1:165797049-165797061 chr1:165796904-165796913 chr1:165797046-165797060
46	ZNF143	chr1:165796298-165798486	GM12878	blood:	n/a	chr1:165797007-165797017
47	MAX	chr1:165796483-165798634	A549	lung:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
48	EP300	chr1:165796500-165797838	SK-N-SH	brain:	n/a	chr1:165796962-165796978 chr1:165797231-165797247 chr1:165797232-165797241 chr1:165796966-165796982 chr1:165797007-165797016 chr1:165797605-165797621
49	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
50	SIN3A	chr1:165796485-165798560	H1-hESC	embryonic stem cell:	n/a	chr1:165798377-165798386 chr1:165796959-165796972 chr1:165796968-165796979

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
ENSG00000236206	Chromatin interaction
ENSG00000143198	Chromatin interaction
ENSG00000224358	Chromatin interaction
ENSG00000215838	Chromatin interaction
ENSG00000143179	Chromatin interaction
ENSG00000143149	Chromatin interaction
ENSG00000143183	Chromatin interaction
ENSG00000143157	Chromatin interaction
ENSG00000172270	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:121 , 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	chr1:165795800-165796600	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr1:165796000-165796600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:165796000-165796600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:165796000-165796600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:165796000-165796600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:165796000-165796600	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr1:165796000-165796600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr1:165796000-165796600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:165796000-165796600	Flanking Active TSS	Brain Angular Gyrus	brain
11	chr1:165796000-165796600	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr1:165796000-165796600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
13	chr1:165796000-165796600	Flanking Active TSS	Brain Substantia Nigra	brain
14	chr1:165796000-165796600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr1:165796000-165796600	Flanking Active TSS	Hela-S3	cervix
16	chr1:165796000-165796600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr1:165796000-165796600	Flanking Active TSS	NH-A	brain
18	chr1:165796000-165796600	Flanking Active TSS	NHLF	lung
19	chr1:165796000-165796800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:165796000-165796800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:165796000-165796800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:165796000-165797000	Enhancers	Fetal Heart	heart
23	chr1:165796000-165798800	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr1:165796000-165799200	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr1:165796200-165796600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
26	chr1:165796200-165796600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:165796200-165796600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:165796200-165796600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr1:165796200-165796600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:165796200-165796600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr1:165796200-165796600	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr1:165796200-165796600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr1:165796200-165796600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr1:165796200-165796600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:165796200-165796600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:165796200-165796600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr1:165796200-165796600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr1:165796200-165796600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:165796200-165796600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:165796200-165796600	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr1:165796200-165796600	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr1:165796200-165796600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr1:165796200-165796600	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr1:165796200-165796600	Flanking Active TSS	Fetal Stomach	stomach
45	chr1:165796200-165796600	Enhancers	Lung	lung
46	chr1:165796200-165796600	Enhancers	Pancreas	Pancrea
47	chr1:165796200-165796600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr1:165796200-165796600	Enhancers	Small Intestine	intestine
49	chr1:165796200-165796600	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr1:165796200-165796600	Flanking Active TSS	A549	lung

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