Variant report

Variant	rs544058091
Chromosome Location	chr1:165798803-165798804
allele	C/T
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	TBP	chr1:165797407-165799044	Hela-S3	cervix:	n/a	n/a
2	TBP	chr1:165796682-165798882	H1-hESC	embryonic stem cell:	n/a	n/a
3	MXI1	chr1:165795790-165799461	SK-N-SH	brain:	n/a	n/a
4	MAX	chr1:165796762-165798850	K562	blood:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
5	ZNF263	chr1:165796775-165798907	HEK293-T-REx	kidney:	n/a	chr1:165797048-165797057 chr1:165798757-165798766
6	MAX	chr1:165796628-165798870	Hela-S3	cervix:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
7	MXI1	chr1:165796090-165799083	IMR90	lung:	n/a	n/a
8	POLR2A	chr1:165796642-165798967	GM12891	blood:	n/a	n/a
9	CUX1	chr1:165797760-165799023	K562	blood:	n/a	n/a
10	REST	chr1:165796661-165798808	HL-60	blood:	n/a	chr1:165797611-165797624 chr1:165797587-165797600 chr1:165797285-165797295 chr1:165797599-165797612
11	MYC	chr1:165796227-165798863	K562	blood:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
12	UBTF	chr1:165796472-165798820	K562	blood:	n/a	n/a
13	TBL1XR1	chr1:165796917-165799236	K562	blood:	n/a	n/a
14	ZNF384	chr1:165796767-165798888	K562	blood:	n/a	chr1:165798013-165798021
15	POLR2A	chr1:165796689-165799100	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:165796645-165799245	MCF10A-Er-Src	breast:	n/a	n/a
17	MAX	chr1:165798774-165798945	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr1:165796748-165798992	PBDE	blood:	n/a	n/a
19	MYC	chr1:165796697-165798821	MCF10A-Er-Src	breast:	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	MXI1	chr1:165796743-165798965	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr1:165796639-165799261	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:165796647-165799073	K562	blood:	n/a	n/a
24	TBP	chr1:165796661-165799032	K562	blood:	n/a	n/a
25	MYC	chr1:165796283-165799081	MCF10A-Er-Src	breast:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
26	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
27	POLR2A	chr1:165796616-165798815	GM12892	blood:	n/a	n/a
28	NR2F2	chr1:165797255-165798966	K562	blood:	n/a	n/a
29	HEY1	chr1:165796685-165799262	K562	blood:	n/a	chr1:165797282-165797297 chr1:165797294-165797309 chr1:165796793-165796808 chr1:165797609-165797624 chr1:165797010-165797025 chr1:165797590-165797605 chr1:165797178-165797193 chr1:165797231-165797246
30	MYC	chr1:165796624-165798811	A549	lung:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
31	TBL1XR1	chr1:165796908-165798918	K562	blood:	n/a	n/a
32	PML	chr1:165796572-165798854	GM12878	blood:	n/a	n/a
33	MAX	chr1:165796629-165799023	NB4	blood:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
34	EP300	chr1:165796816-165798892	K562	blood:	n/a	chr1:165798210-165798226 chr1:165796962-165796978 chr1:165797231-165797247 chr1:165797232-165797241 chr1:165796966-165796982 chr1:165797007-165797016 chr1:165797605-165797621
35	MYC	chr1:165796445-165798827	K562	blood:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
36	ELK1	chr1:165798662-165798878	Hela-S3	cervix:	n/a	n/a
37	USF2	chr1:165797759-165798821	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr1:165796643-165799070	MCF10A-Er-Src	breast:	n/a	n/a
39	RELA	chr1:165796784-165798873	GM18951	blood:	n/a	n/a
40	RELA	chr1:165796797-165798934	GM10847	blood:	n/a	n/a
41	POLR2A	chr1:165796632-165799024	K562	blood:	n/a	n/a
42	RFX5	chr1:165796486-165798873	Hela-S3	cervix:	n/a	n/a
43	MYC	chr1:165796472-165798919	NB4	blood:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
44	POLR2A	chr1:165796432-165799115	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr1:165796674-165798920	K562	blood:	n/a	n/a
46	IRF1	chr1:165796490-165799135	K562	blood:	n/a	chr1:165797613-165797627 chr1:165798461-165798475 chr1:165798553-165798564
47	MAZ	chr1:165796470-165799022	K562	blood:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
48	TAL1	chr1:165796758-165798958	K562	blood:	n/a	n/a
49	CHD1	chr1:165796874-165799140	GM12878	blood:	n/a	chr1:165797014-165797024 chr1:165797585-165797595 chr1:165797665-165797675
50	POLR2A	chr1:165796603-165798858	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:165685761..165688091-chr1:165797394..165800120,2	K562	blood:
2	chr1:165701898..165704747-chr1:165797455..165798967,2	K562	blood:
3	chr1:165798053..165799867-chr1:165811993..165814835,2	MCF-7	breast:
4	chr1:165735886..165744990-chr1:165791702..165805629,42	K562	blood:
5	chr1:165666837..165669027-chr1:165796687..165798880,2	MCF-7	breast:
6	chr1:165699126..165701487-chr1:165797315..165798954,2	K562	blood:
7	chr1:165797467..165799152-chr1:165835828..165838379,2	MCF-7	breast:
8	chr1:165741744..165743826-chr1:165797591..165799642,2	MCF-7	breast:
9	chr1:165667556..165669480-chr1:165798614..165800246,2	K562	blood:
10	chr1:165778822..165780861-chr1:165797146..165799667,2	MCF-7	breast:
11	chr1:165735066..165739781-chr1:165794447..165799093,13	MCF-7	breast:
12	chr1:165797029..165799386-chr1:165863557..165867019,3	K562	blood:
13	chr1:165797895..165798858-chr1:210546984..210547752,2	Hela-S3	cervix:
14	chr1:165797327..165800051-chr1:165876668..165879627,3	MCF-7	breast:
15	chr1:165733730..165736417-chr1:165798667..165800425,2	K562	blood:
16	chr1:165736117..165742504-chr1:165795129..165799551,11	MCF-7	breast:
17	chr1:165798709..165800702-chr6:26239289..26241961,2	MCF-7	breast:
18	chr1:165598807..165601582-chr1:165797127..165800019,4	K562	blood:
19	chr1:165795260..165799386-chr1:165863983..165867487,4	K562	blood:
20	chr1:165736523..165741866-chr1:165791420..165802380,26	K562	blood:

Variant related genes	Relation type
TMCO1	TF binding region
ENSG00000143179	Chromatin interaction
ENSG00000215838	Chromatin interaction
ENSG00000224358	Chromatin interaction
ENSG00000143183	Chromatin interaction
ENSG00000198327	Chromatin interaction
ENSG00000143149	Chromatin interaction
ENSG00000143198	Chromatin interaction
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv818544	chr1:165797966-165811729	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
6	nsv548097	chr1:165797966-165825166	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165796000-165799200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr1:165796200-165799000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:165796200-165799000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:165796200-165799200	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr1:165796400-165799000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:165796400-165799000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:165796400-165799000	Active TSS	Fetal Intestine Large	intestine
8	chr1:165796400-165799200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr1:165796400-165799200	Active TSS	GM12878-XiMat	blood
10	chr1:165796400-165799400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:165796400-165799400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr1:165796400-165799400	Active TSS	HSMMtube	muscle
13	chr1:165796400-165800000	Active TSS	Psoas Muscle	Psoas
14	chr1:165796600-165799000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:165796600-165799000	Active TSS	Fetal Intestine Small	intestine
16	chr1:165796600-165799000	Active TSS	Fetal Stomach	stomach
17	chr1:165796600-165799200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr1:165796600-165799200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:165796600-165799200	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr1:165796600-165799200	Active TSS	A549	lung
21	chr1:165796600-165799400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:165796600-165799400	Active TSS	NHLF	lung
23	chr1:165797400-165799000	Active TSS	Fetal Brain Male	brain
24	chr1:165797400-165799200	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr1:165797800-165799000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr1:165797800-165799000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr1:165797800-165799200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:165797800-165799400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:165798200-165799000	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr1:165798200-165799000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr1:165798200-165799200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:165798400-165799000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:165798400-165799000	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr1:165798400-165799000	Flanking Active TSS	HUVEC	blood vessel
35	chr1:165798400-165799000	Flanking Active TSS	Osteobl	bone
36	chr1:165798400-165799200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr1:165798400-165799200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr1:165798400-165799200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr1:165798400-165799200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:165798400-165802200	Weak transcription	Left Ventricle	heart
41	chr1:165798600-165799000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:165798600-165799000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr1:165798600-165799000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr1:165798600-165799000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:165798600-165799000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:165798600-165799000	Enhancers	Primary B cells from peripheral blood	blood
47	chr1:165798600-165799000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:165798600-165799000	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr1:165798600-165799000	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr1:165798600-165799000	Flanking Active TSS	Duodenum Mucosa	Duodenum

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