Variant report

Variant	rs541008557
Chromosome Location	chr1:165796625-165796626
allele	C/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	MAZ	chr1:165796617-165798455	Hela-S3	cervix:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
2	E2F6	chr1:165796581-165797813	K562	blood:	n/a	chr1:165797654-165797666 chr1:165797013-165797022 chr1:165797007-165797016 chr1:165796975-165796985
3	POLR2A	chr1:165796567-165798533	H1-neurons	neurons:	n/a	n/a
4	TRIM28	chr1:165796495-165797108	K562	blood:	n/a	n/a
5	MXI1	chr1:165795790-165799461	SK-N-SH	brain:	n/a	n/a
6	MAX	chr1:165796594-165798524	MCF-7	breast:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
7	CTCF	chr1:165796620-165796770	GM12875	blood:	n/a	n/a
8	TAF1	chr1:165796552-165798793	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr1:165796575-165798518	HCT-116	colon:	n/a	n/a
10	YY1	chr1:165796599-165797834	HepG2	liver:	n/a	chr1:165797592-165797606 chr1:165797628-165797642 chr1:165797231-165797245 chr1:165796773-165796782 chr1:165797230-165797244 chr1:165797281-165797295 chr1:165797611-165797625
11	RAD21	chr1:165796537-165797520	H1-hESC	embryonic stem cell:	n/a	chr1:165797262-165797276 chr1:165796971-165796985
12	POLR2A	chr1:165796535-165798587	HUVEC	blood vessel:	n/a	n/a
13	JUND	chr1:165796614-165797926	A549	lung:	n/a	chr1:165797411-165797425
14	POLR2A	chr1:165796598-165798503	ProgFib	skin:	n/a	n/a
15	MAX	chr1:165796540-165798644	HepG2	liver:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
16	NFYB	chr1:165796317-165796990	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr1:165796463-165798522	PFSK-1	brain:	n/a	n/a
18	MXI1	chr1:165796090-165799083	IMR90	lung:	n/a	n/a
19	MAX	chr1:165796559-165798551	SK-N-SH	brain:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
20	TEAD4	chr1:165796459-165797210	K562	blood:	n/a	n/a
21	MYC	chr1:165796582-165798605	Hela-S3	cervix:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
22	MAX	chr1:165796582-165798547	H1-hESC	embryonic stem cell:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
23	TAF1	chr1:165796524-165798600	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr1:165796606-165798547	GM18526	blood:	n/a	n/a
25	CTCF	chr1:165796520-165796670	GM06990	blood:	n/a	n/a
26	CTCF	chr1:165796573-165797631	K562	blood:	n/a	n/a
27	CTCF	chr1:165796580-165796730	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr1:165796517-165796684	GM10248	blood:	n/a	n/a
29	CTCF	chr1:165796615-165796832	GM12892	blood:	n/a	n/a
30	POLR2A	chr1:165796513-165797255	U87	brain:	n/a	n/a
31	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
32	CTCF	chr1:165796500-165796650	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr1:165796588-165796646	GM20000	blood:	n/a	n/a
34	MYC	chr1:165796227-165798863	K562	blood:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
35	UBTF	chr1:165796472-165798820	K562	blood:	n/a	n/a
36	CTCF	chr1:165796540-165796690	GM12871	blood:	n/a	n/a
37	CTCF	chr1:165796500-165796650	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr1:165796600-165796750	GM12873	blood:	n/a	n/a
39	CBX3	chr1:165796600-165798501	K562	blood:	n/a	n/a
40	PML	chr1:165796611-165798552	K562	blood:	n/a	n/a
41	CTCF	chr1:165796459-165797575	GM12878	blood:	n/a	n/a
42	POLR2A	chr1:165796589-165798504	MCF-7	breast:	n/a	n/a
43	HCFC1	chr1:165796510-165798726	K562	blood:	n/a	n/a
44	POLR2A	chr1:165796585-165798543	K562	blood:	n/a	n/a
45	MAX	chr1:165796280-165798705	A549	lung:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
46	CTCF	chr1:165796540-165796690	GM12865	blood:	n/a	n/a
47	POLR2A	chr1:165796570-165798510	NB4	blood:	n/a	n/a
48	IRF1	chr1:165796469-165799244	K562	blood:	n/a	chr1:165797613-165797627 chr1:165798461-165798475 chr1:165798553-165798564
49	E2F6	chr1:165796569-165797822	K562	blood:	n/a	chr1:165797654-165797666 chr1:165797013-165797022 chr1:165797007-165797016 chr1:165796975-165796985
50	CTCF	chr1:165796540-165796690	GM12873	blood:	n/a	n/a

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
ENSG00000143198	Chromatin interaction
ENSG00000143149	Chromatin interaction
ENSG00000143179	Chromatin interaction
ENSG00000143157	Chromatin interaction
ENSG00000172270	Chromatin interaction
ENSG00000143183	Chromatin interaction
ENSG00000224358	Chromatin interaction
ENSG00000236206	Chromatin interaction
ENSG00000215838	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:125 , 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	chr1:165796000-165796800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:165796000-165796800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:165796000-165796800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:165796000-165797000	Enhancers	Fetal Heart	heart
6	chr1:165796000-165798800	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr1:165796000-165799200	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr1:165796200-165796800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:165796200-165796800	Active TSS	Right Atrium	heart
10	chr1:165796200-165797000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:165796200-165797400	Active TSS	Fetal Brain Female	brain
12	chr1:165796200-165797800	Active TSS	Placenta	Placenta
13	chr1:165796200-165798000	Active TSS	Colonic Mucosa	Colon
14	chr1:165796200-165798000	Active TSS	Fetal Muscle Trunk	muscle
15	chr1:165796200-165798000	Active TSS	Right Ventricle	heart
16	chr1:165796200-165798600	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:165796200-165798600	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr1:165796200-165798600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:165796200-165798600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:165796200-165798600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr1:165796200-165798600	Active TSS	Rectal Smooth Muscle	rectum
22	chr1:165796200-165798800	Active TSS	Aorta	Aorta
23	chr1:165796200-165798800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr1:165796200-165798800	Active TSS	NHDF-Ad	bronchial
25	chr1:165796200-165799000	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr1:165796200-165799000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:165796200-165799200	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr1:165796400-165796800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr1:165796400-165797400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:165796400-165797800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:165796400-165798000	Active TSS	Fetal Muscle Leg	muscle
32	chr1:165796400-165798200	Active TSS	Left Ventricle	heart
33	chr1:165796400-165798200	Active TSS	Placenta Amnion	Placenta Amnion
34	chr1:165796400-165798400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:165796400-165798400	Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr1:165796400-165798600	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr1:165796400-165798600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:165796400-165798600	Active TSS	Brain Anterior Caudate	brain
39	chr1:165796400-165798600	Active TSS	Brain Germinal Matrix	brain
40	chr1:165796400-165798600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:165796400-165798600	Active TSS	Fetal Lung	lung
42	chr1:165796400-165798600	Active TSS	Thymus	Thymus
43	chr1:165796400-165798800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr1:165796400-165798800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:165796400-165798800	Active TSS	Fetal Kidney	kidney
46	chr1:165796400-165798800	Active TSS	Ovary	ovary
47	chr1:165796400-165799000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:165796400-165799000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:165796400-165799000	Active TSS	Fetal Intestine Large	intestine
50	chr1:165796400-165799200	Active TSS	H9 Cell Line	embryonic stem cell

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