Variant report

Variant	rs556780002
Chromosome Location	chr1:165797568-165797569
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	POLR2A	chr1:165796567-165798533	H1-neurons	neurons:	n/a	n/a
5	TBP	chr1:165797407-165799044	Hela-S3	cervix:	n/a	n/a
6	TBP	chr1:165796682-165798882	H1-hESC	embryonic stem cell:	n/a	n/a
7	MXI1	chr1:165795790-165799461	SK-N-SH	brain:	n/a	n/a
8	E2F4	chr1:165797415-165798603	MCF10A-Er-Src	breast:	n/a	chr1:165797655-165797666 chr1:165797654-165797666 chr1:165798240-165798251 chr1:165798235-165798250
9	ZBTB7A	chr1:165797039-165798063	K562	blood:	n/a	n/a
10	RAD21	chr1:165796693-165798782	IMR90	lung:	n/a	chr1:165797262-165797276 chr1:165796971-165796985
11	TAF1	chr1:165797474-165797820	GM12892	blood:	n/a	n/a
12	MAX	chr1:165796594-165798524	MCF-7	breast:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
13	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
14	MYC	chr1:165796713-165797779	HepG2	liver:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
15	POLR2A	chr1:165796642-165798540	GM19193	blood:	n/a	n/a
16	TAF1	chr1:165796552-165798793	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr1:165797440-165797590	HFF-Myc	foreskin:	n/a	n/a
18	POLR2A	chr1:165796740-165798427	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:165796575-165798518	HCT-116	colon:	n/a	n/a
20	CTBP2	chr1:165796854-165797863	H1-hESC	embryonic stem cell:	n/a	n/a
21	STAT3	chr1:165797435-165798357	MCF10A-Er-Src	breast:	n/a	chr1:165797993-165798000 chr1:165797470-165797482 chr1:165798191-165798199 chr1:165797465-165797477
22	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
23	ATF3	chr1:165797281-165797779	A549	lung:	n/a	chr1:165797580-165797600
24	MYC	chr1:165796700-165798428	K562	blood:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
25	POLR2A	chr1:165796535-165798587	HUVEC	blood vessel:	n/a	n/a
26	JUND	chr1:165796614-165797926	A549	lung:	n/a	chr1:165797411-165797425
27	MAX	chr1:165796657-165798487	HUVEC	blood vessel:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
28	MAX	chr1:165796762-165798850	K562	blood:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
29	ETS1	chr1:165797299-165797749	A549	lung:	n/a	chr1:165797684-165797697 chr1:165797628-165797639
30	ZNF263	chr1:165796775-165798907	HEK293-T-REx	kidney:	n/a	chr1:165797048-165797057 chr1:165798757-165798766
31	CTCF	chr1:165797560-165797710	AG04449	skin:	n/a	n/a
32	CHD1	chr1:165796796-165798733	H1-hESC	embryonic stem cell:	n/a	chr1:165797014-165797024 chr1:165797585-165797595 chr1:165797665-165797675
33	MAX	chr1:165796628-165798870	Hela-S3	cervix:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
34	POLR2A	chr1:165796598-165798503	ProgFib	skin:	n/a	n/a
35	GTF2B	chr1:165796815-165798441	K562	blood:	n/a	n/a
36	POLR2A	chr1:165797441-165797749	A549	lung:	n/a	n/a
37	MAX	chr1:165796540-165798644	HepG2	liver:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
38	TBP	chr1:165796690-165798550	HepG2	liver:	n/a	n/a
39	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
40	POLR2A	chr1:165796463-165798522	PFSK-1	brain:	n/a	n/a
41	MXI1	chr1:165796090-165799083	IMR90	lung:	n/a	n/a
42	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
43	CEBPB	chr1:165797341-165797751	IMR90	lung:	n/a	n/a
44	MAX	chr1:165796559-165798551	SK-N-SH	brain:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
45	TAF1	chr1:165796629-165798520	PFSK-1	brain:	n/a	n/a
46	CHD2	chr1:165796722-165798524	K562	blood:	n/a	chr1:165797014-165797024 chr1:165796765-165796775 chr1:165797585-165797595 chr1:165797665-165797675
47	TBL1XR1	chr1:165797459-165797824	GM12878	blood:	n/a	n/a
48	CHD2	chr1:165796740-165797737	H1-hESC	embryonic stem cell:	n/a	chr1:165797014-165797024 chr1:165796765-165796775 chr1:165797585-165797595 chr1:165797665-165797675
49	MYC	chr1:165796582-165798605	Hela-S3	cervix:	n/a	chr1:165797265-165797275 chr1:165797265-165797274 chr1:165797265-165797272
50	TAF1	chr1:165796656-165798537	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:165796745..165797681-chr16:284742..285519,2	Hela-S3	cervix:
2	chr1:165685761..165688091-chr1:165797394..165800120,2	K562	blood:
3	chr1:165701898..165704747-chr1:165797455..165798967,2	K562	blood:
4	chr1:165710113..165712004-chr1:165797069..165798776,2	K562	blood:
5	chr1:165797297..165798088-chr19:893323..894173,2	Hela-S3	cervix:
6	chr1:165797353..165798141-chr14:103540442..103541389,2	Hela-S3	cervix:
7	chr1:165797148..165797921-chr19:16189779..16190364,2	Hela-S3	cervix:
8	chr1:165735886..165744990-chr1:165791702..165805629,42	K562	blood:
9	chr1:165666281..165669188-chr1:165795955..165797975,3	MCF-7	breast:
10	chr1:165666837..165669027-chr1:165796687..165798880,2	MCF-7	breast:
11	chr1:165699126..165701487-chr1:165797315..165798954,2	K562	blood:
12	chr1:165795600..165798299-chr1:165863664..165866486,4	MCF-7	breast:
13	chr1:165797467..165799152-chr1:165835828..165838379,2	MCF-7	breast:
14	chr1:165599775..165601444-chr1:165795750..165798255,2	K562	blood:
15	chr1:165778822..165780861-chr1:165797146..165799667,2	MCF-7	breast:
16	chr1:165735066..165739781-chr1:165794447..165799093,13	MCF-7	breast:
17	chr1:165797029..165799386-chr1:165863557..165867019,3	K562	blood:
18	chr1:165797500..165798067-chr6:134489786..134490486,2	Hela-S3	cervix:
19	chr1:165797327..165800051-chr1:165876668..165879627,3	MCF-7	breast:
20	chr1:165736117..165742504-chr1:165795129..165799551,11	MCF-7	breast:
21	chr1:45196193..45196931-chr1:165796785..165797648,2	Hela-S3	cervix:
22	chr1:165797192..165797753-chr1:165840469..165841268,2	MCF-7	breast:
23	chr1:165797276..165798002-chr7:100860513..100861460,2	Hela-S3	cervix:
24	chr1:165598807..165601582-chr1:165797127..165800019,4	K562	blood:
25	chr1:165796719..165798432-chr1:167188997..167191733,2	K562	blood:
26	chr1:165795260..165799386-chr1:165863983..165867487,4	K562	blood:
27	chr1:165564921..165568209-chr1:165795710..165798284,3	K562	blood:
28	chr1:165736523..165741866-chr1:165791420..165802380,26	K562	blood:
29	chr1:165598109..165601268-chr1:165795469..165798298,3	MCF-7	breast:
30	chr1:165797268..165798031-chr11:64084976..64085603,2	Hela-S3	cervix:

Variant related genes	Relation type
TMCO1	TF binding region
ENSG00000106400	Chromatin interaction
ENSG00000143149	Chromatin interaction
ENSG00000143198	Chromatin interaction
ENSG00000143190	Chromatin interaction
ENSG00000106397	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000167930	Chromatin interaction
ENSG00000272205	Chromatin interaction
ENSG00000215838	Chromatin interaction
ENSG00000143183	Chromatin interaction
ENSG00000207507	Chromatin interaction
ENSG00000224358	Chromatin interaction
ENSG00000126432	Chromatin interaction
ENSG00000143179	Chromatin interaction
ENSG00000173113	Chromatin interaction
ENSG00000236206	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	chr1:165796200-165797800	Active TSS	Placenta	Placenta
4	chr1:165796200-165798000	Active TSS	Colonic Mucosa	Colon
5	chr1:165796200-165798000	Active TSS	Fetal Muscle Trunk	muscle
6	chr1:165796200-165798000	Active TSS	Right Ventricle	heart
7	chr1:165796200-165798600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:165796200-165798600	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr1:165796200-165798600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:165796200-165798600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:165796200-165798600	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr1:165796200-165798600	Active TSS	Rectal Smooth Muscle	rectum
13	chr1:165796200-165798800	Active TSS	Aorta	Aorta
14	chr1:165796200-165798800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr1:165796200-165798800	Active TSS	NHDF-Ad	bronchial
16	chr1:165796200-165799000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:165796200-165799000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:165796200-165799200	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr1:165796400-165797800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:165796400-165798000	Active TSS	Fetal Muscle Leg	muscle
21	chr1:165796400-165798200	Active TSS	Left Ventricle	heart
22	chr1:165796400-165798200	Active TSS	Placenta Amnion	Placenta Amnion
23	chr1:165796400-165798400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:165796400-165798400	Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr1:165796400-165798600	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr1:165796400-165798600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:165796400-165798600	Active TSS	Brain Anterior Caudate	brain
28	chr1:165796400-165798600	Active TSS	Brain Germinal Matrix	brain
29	chr1:165796400-165798600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:165796400-165798600	Active TSS	Fetal Lung	lung
31	chr1:165796400-165798600	Active TSS	Thymus	Thymus
32	chr1:165796400-165798800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr1:165796400-165798800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:165796400-165798800	Active TSS	Fetal Kidney	kidney
35	chr1:165796400-165798800	Active TSS	Ovary	ovary
36	chr1:165796400-165799000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:165796400-165799000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:165796400-165799000	Active TSS	Fetal Intestine Large	intestine
39	chr1:165796400-165799200	Active TSS	H9 Cell Line	embryonic stem cell
40	chr1:165796400-165799200	Active TSS	GM12878-XiMat	blood
41	chr1:165796400-165799400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:165796400-165799400	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr1:165796400-165799400	Active TSS	HSMMtube	muscle
44	chr1:165796400-165800000	Active TSS	Psoas Muscle	Psoas
45	chr1:165796600-165797600	Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr1:165796600-165797600	Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr1:165796600-165797600	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr1:165796600-165797600	Active TSS	HepG2	liver
49	chr1:165796600-165797800	Active TSS	Primary B cells from peripheral blood	blood
50	chr1:165796600-165797800	Active TSS	Primary T cells from cord blood	blood

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