Variant report

Variant	rs373091415
Chromosome Location	chr1:165797076-165797077
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	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	HEY1	chr1:165796685-165798591	HepG2	liver:	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
4	CTCF	chr1:165797067-165797402	H1-hESC	embryonic stem cell:	n/a	n/a
5	TCF7L2	chr1:165796859-165797273	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr1:165796567-165798533	H1-neurons	neurons:	n/a	n/a
7	TRIM28	chr1:165796495-165797108	K562	blood:	n/a	n/a
8	POLR2A	chr1:165796690-165797192	U87	brain:	n/a	n/a
9	TBP	chr1:165796682-165798882	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr1:165797040-165797190	Caco-2	colon:	n/a	n/a
11	MXI1	chr1:165795790-165799461	SK-N-SH	brain:	n/a	n/a
12	ZBTB7A	chr1:165797039-165798063	K562	blood:	n/a	n/a
13	RAD21	chr1:165796693-165798782	IMR90	lung:	n/a	chr1:165797262-165797276 chr1:165796971-165796985
14	E2F6	chr1:165796928-165797405	H1-hESC	embryonic stem cell:	n/a	chr1:165797013-165797022 chr1:165797007-165797016 chr1:165796975-165796985
15	E2F6	chr1:165796654-165797360	A549	lung:	n/a	chr1:165797013-165797022 chr1:165797007-165797016 chr1:165796975-165796985
16	MAX	chr1:165796594-165798524	MCF-7	breast:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
17	CTCF	chr1:165796989-165797438	Fibrobl	skin:	n/a	n/a
18	ELF1	chr1:165796741-165798063	K562	blood:	n/a	chr1:165797231-165797243 chr1:165796961-165796970 chr1:165797175-165797187 chr1:165797276-165797288 chr1:165796773-165796782 chr1:165797819-165797830 chr1:165797611-165797623 chr1:165796948-165796960
19	MYC	chr1:165796713-165797779	HepG2	liver:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
20	USF2	chr1:165796722-165797216	H1-hESC	embryonic stem cell:	n/a	chr1:165797174-165797190 chr1:165796971-165796987
21	POLR2A	chr1:165796642-165798540	GM19193	blood:	n/a	n/a
22	TAF1	chr1:165796552-165798793	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr1:165796698-165797084	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr1:165796740-165798427	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:165796575-165798518	HCT-116	colon:	n/a	n/a
26	CTBP2	chr1:165796854-165797863	H1-hESC	embryonic stem cell:	n/a	n/a
27	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
28	RAD21	chr1:165796537-165797520	H1-hESC	embryonic stem cell:	n/a	chr1:165797262-165797276 chr1:165796971-165796985
29	CTCF	chr1:165797000-165797150	HAc	cerebellar:	n/a	n/a
30	MYC	chr1:165796700-165798428	K562	blood:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
31	POLR2A	chr1:165796535-165798587	HUVEC	blood vessel:	n/a	n/a
32	JUND	chr1:165796614-165797926	A549	lung:	n/a	chr1:165797411-165797425
33	MAX	chr1:165796657-165798487	HUVEC	blood vessel:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
34	MAX	chr1:165796762-165798850	K562	blood:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
35	ZNF263	chr1:165796775-165798907	HEK293-T-REx	kidney:	n/a	chr1:165797048-165797057 chr1:165798757-165798766
36	CHD1	chr1:165796796-165798733	H1-hESC	embryonic stem cell:	n/a	chr1:165797014-165797024 chr1:165797585-165797595 chr1:165797665-165797675
37	MYC	chr1:165796945-165797445	GM12878	blood:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
38	MAX	chr1:165796628-165798870	Hela-S3	cervix:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
39	POLR2A	chr1:165796598-165798503	ProgFib	skin:	n/a	n/a
40	MYC	chr1:165797003-165797284	MCF-7	breast:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
41	CTCF	chr1:165797020-165797170	GM12867	blood:	n/a	n/a
42	GTF2B	chr1:165796815-165798441	K562	blood:	n/a	n/a
43	MAX	chr1:165796540-165798644	HepG2	liver:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
44	TBP	chr1:165796690-165798550	HepG2	liver:	n/a	n/a
45	YY1	chr1:165796676-165798459	GM12878	blood:	n/a	chr1:165797592-165797606 chr1:165798301-165798313 chr1:165797628-165797642 chr1:165797231-165797245 chr1:165796773-165796782 chr1:165797230-165797244 chr1:165797281-165797295 chr1:165797611-165797625
46	TAF1	chr1:165796746-165797224	GM12891	blood:	n/a	n/a
47	POLR2A	chr1:165796463-165798522	PFSK-1	brain:	n/a	n/a
48	MXI1	chr1:165796090-165799083	IMR90	lung:	n/a	n/a
49	HEY1	chr1:165796674-165798516	HepG2	liver:	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
50	POLR2A	chr1:165796726-165797365	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:165796745..165797681-chr16:284742..285519,2	Hela-S3	cervix:
2	chr1:165796668..165797173-chr6:27777658..27778331,2	Hela-S3	cervix:
3	chr1:165710113..165712004-chr1:165797069..165798776,2	K562	blood:
4	chr1:165796721..165797304-chr17:8076192..8077080,2	NB4	blood:
5	chr1:165735886..165744990-chr1:165791702..165805629,42	K562	blood:
6	chr1:165666281..165669188-chr1:165795955..165797975,3	MCF-7	breast:
7	chr1:165666837..165669027-chr1:165796687..165798880,2	MCF-7	breast:
8	chr1:165795600..165798299-chr1:165863664..165866486,4	MCF-7	breast:
9	chr1:165599775..165601444-chr1:165795750..165798255,2	K562	blood:
10	chr1:165735066..165739781-chr1:165794447..165799093,13	MCF-7	breast:
11	chr1:165797029..165799386-chr1:165863557..165867019,3	K562	blood:
12	chr1:165736117..165742504-chr1:165795129..165799551,11	MCF-7	breast:
13	chr1:45196193..45196931-chr1:165796785..165797648,2	Hela-S3	cervix:
14	chr1:165796757..165797325-chr2:203240315..203241252,2	NB4	blood:
15	chr1:165795614..165797230-chr19:573717..575318,2	K562	blood:
16	chr1:165796719..165798432-chr1:167188997..167191733,2	K562	blood:
17	chr1:165795260..165799386-chr1:165863983..165867487,4	K562	blood:
18	chr1:165564921..165568209-chr1:165795710..165798284,3	K562	blood:
19	chr1:165736523..165741866-chr1:165791420..165802380,26	K562	blood:
20	chr1:165598109..165601268-chr1:165795469..165798298,3	MCF-7	breast:

Variant related genes	Relation type
TMCO1	TF binding region
ENSG00000143149	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000143198	Chromatin interaction
ENSG00000167930	Chromatin interaction
ENSG00000215838	Chromatin interaction
ENSG00000172270	Chromatin interaction
ENSG00000236206	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000143190	Chromatin interaction
ENSG00000143183	Chromatin interaction
ENSG00000200463	Chromatin interaction
ENSG00000224358	Chromatin interaction
ENSG00000272205	Chromatin interaction
ENSG00000143179	Chromatin interaction
ENSG00000273456	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165796000-165798800	Active TSS	Rectal Mucosa Donor 31	rectum
2	chr1:165796000-165799200	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr1:165796200-165797400	Active TSS	Fetal Brain Female	brain
4	chr1:165796200-165797800	Active TSS	Placenta	Placenta
5	chr1:165796200-165798000	Active TSS	Colonic Mucosa	Colon
6	chr1:165796200-165798000	Active TSS	Fetal Muscle Trunk	muscle
7	chr1:165796200-165798000	Active TSS	Right Ventricle	heart
8	chr1:165796200-165798600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:165796200-165798600	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr1:165796200-165798600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:165796200-165798600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:165796200-165798600	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr1:165796200-165798600	Active TSS	Rectal Smooth Muscle	rectum
14	chr1:165796200-165798800	Active TSS	Aorta	Aorta
15	chr1:165796200-165798800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:165796200-165798800	Active TSS	NHDF-Ad	bronchial
17	chr1:165796200-165799000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr1:165796200-165799000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:165796200-165799200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr1:165796400-165797400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:165796400-165797800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:165796400-165798000	Active TSS	Fetal Muscle Leg	muscle
23	chr1:165796400-165798200	Active TSS	Left Ventricle	heart
24	chr1:165796400-165798200	Active TSS	Placenta Amnion	Placenta Amnion
25	chr1:165796400-165798400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:165796400-165798400	Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr1:165796400-165798600	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr1:165796400-165798600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:165796400-165798600	Active TSS	Brain Anterior Caudate	brain
30	chr1:165796400-165798600	Active TSS	Brain Germinal Matrix	brain
31	chr1:165796400-165798600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:165796400-165798600	Active TSS	Fetal Lung	lung
33	chr1:165796400-165798600	Active TSS	Thymus	Thymus
34	chr1:165796400-165798800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr1:165796400-165798800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:165796400-165798800	Active TSS	Fetal Kidney	kidney
37	chr1:165796400-165798800	Active TSS	Ovary	ovary
38	chr1:165796400-165799000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:165796400-165799000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:165796400-165799000	Active TSS	Fetal Intestine Large	intestine
41	chr1:165796400-165799200	Active TSS	H9 Cell Line	embryonic stem cell
42	chr1:165796400-165799200	Active TSS	GM12878-XiMat	blood
43	chr1:165796400-165799400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:165796400-165799400	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr1:165796400-165799400	Active TSS	HSMMtube	muscle
46	chr1:165796400-165800000	Active TSS	Psoas Muscle	Psoas
47	chr1:165796600-165797400	Weak transcription	Fetal Brain Male	brain
48	chr1:165796600-165797600	Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr1:165796600-165797600	Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr1:165796600-165797600	Active TSS	Skeletal Muscle Female	skeletal muscle

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