Variant report

Variant	rs5781251
Chromosome Location	chr1:221916137-221916138
allele	-/C
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	CTCF	chr1:221916100-221916250	GM12873	blood:	n/a	n/a
2	ATF2	chr1:221914976-221917478	GM12878	blood:	n/a	n/a
3	MAX	chr1:221914927-221916836	MCF-7	breast:	n/a	chr1:221916101-221916110 chr1:221916100-221916110
4	RAD21	chr1:221913441-221917304	IMR90	lung:	n/a	chr1:221916643-221916657 chr1:221915692-221915706
5	YY1	chr1:221915923-221916897	GM12878	blood:	n/a	chr1:221916268-221916282 chr1:221916491-221916502 chr1:221916830-221916839
6	CTCF	chr1:221916120-221916270	GM12865	blood:	n/a	n/a
7	CTCF	chr1:221916097-221916441	A549	lung:	n/a	n/a
8	CTBP2	chr1:221914861-221916839	H1-hESC	embryonic stem cell:	n/a	n/a
9	USF2	chr1:221915101-221916349	Hela-S3	cervix:	n/a	chr1:221916086-221916102
10	UBTF	chr1:221915704-221916886	K562	blood:	n/a	n/a
11	POLR2A	chr1:221915038-221916863	GM12878	blood:	n/a	n/a
12	CHD2	chr1:221914975-221917455	GM12878	blood:	n/a	chr1:221916212-221916222
13	POLR2A	chr1:221913461-221917502	GM18526	blood:	n/a	n/a
14	JUND	chr1:221913430-221916491	SK-N-SH	brain:	n/a	chr1:221915656-221915665 chr1:221916021-221916035 chr1:221916217-221916226 chr1:221915505-221915514 chr1:221916221-221916230 chr1:221914973-221914982
15	SP1	chr1:221916057-221916507	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:221914999-221916963	Hela-S3	cervix:	n/a	n/a
17	ZNF143	chr1:221915207-221916891	H1-hESC	embryonic stem cell:	n/a	chr1:221916190-221916208 chr1:221916381-221916399
18	POLR2A	chr1:221913364-221917603	GM12892	blood:	n/a	n/a
19	CTCF	chr1:221916122-221916416	NHEK	skin:	n/a	n/a
20	ZKSCAN1	chr1:221914986-221916519	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr1:221916070-221916417	T-47D	breast:	n/a	n/a
22	E2F6	chr1:221915906-221916704	K562	blood:	n/a	chr1:221916537-221916544 chr1:221916273-221916282 chr1:221916537-221916544 chr1:221916537-221916544 chr1:221916213-221916225
23	CTCF	chr1:221916096-221916437	A549	lung:	n/a	n/a
24	POLR2A	chr1:221913521-221916519	K562	blood:	n/a	n/a
25	MEF2A	chr1:221915988-221916594	GM12878	blood:	n/a	n/a
26	CHD1	chr1:221914149-221917620	GM12878	blood:	n/a	chr1:221916212-221916222
27	RFX5	chr1:221913575-221917269	SK-N-SH	brain:	n/a	chr1:221915670-221915679 chr1:221917085-221917094
28	BCLAF1	chr1:221915602-221917461	GM12878	blood:	n/a	chr1:221916273-221916286 chr1:221916645-221916658 chr1:221915692-221915705
29	POLR2A	chr1:221916016-221916669	A549	lung:	n/a	n/a
30	RAD21	chr1:221914629-221916956	SK-N-SH_RA	brain:	n/a	chr1:221916643-221916657 chr1:221915692-221915706
31	POLR2A	chr1:221914185-221916766	H1-neurons	neurons:	n/a	n/a
32	ELF1	chr1:221916119-221916465	A549	lung:	n/a	n/a
33	CTCF	chr1:221916130-221916392	A549	lung:	n/a	n/a
34	TBP	chr1:221915193-221916503	Hela-S3	cervix:	n/a	n/a
35	TCF3	chr1:221915507-221916576	GM12878	blood:	n/a	n/a
36	CTCF	chr1:221916058-221916469	GM12892	blood:	n/a	n/a
37	POLR2A	chr1:221909168-221918546	GM12878	blood:	n/a	n/a
38	HEY1	chr1:221915103-221916231	K562	blood:	n/a	chr1:221915693-221915708 chr1:221915698-221915713
39	SIN3AK20	chr1:221915599-221916189	K562	blood:	n/a	n/a
40	RUNX3	chr1:221914861-221916544	GM12878	blood:	n/a	n/a
41	CTCF	chr1:221916073-221916156	Lung_OC	lung:	n/a	n/a
42	POLR2A	chr1:221915207-221916325	HepG2	liver:	n/a	n/a
43	EP300	chr1:221915276-221916369	GM12878	blood:	n/a	chr1:221915703-221915719 chr1:221916079-221916095
44	CTCF	chr1:221916120-221916270	HEEpiC	esophagus:	n/a	n/a
45	RAD21	chr1:221915923-221916990	MCF-7	breast:	n/a	chr1:221916643-221916657
46	MAX	chr1:221915067-221917253	Hela-S3	cervix:	n/a	chr1:221916895-221916904 chr1:221916101-221916110 chr1:221916100-221916110
47	PAX5	chr1:221915936-221916854	GM12892	blood:	n/a	chr1:221916761-221916780 chr1:221916356-221916375
48	POLR2A	chr1:221915281-221916880	MCF-7	breast:	n/a	n/a
49	POLR2A	chr1:221915610-221917433	GM12891	blood:	n/a	n/a
50	POLR2A	chr1:221914975-221916939	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:221916107-221916157	SAEC	small airway:	n/a
2	chr1:221916107-221916157	MCF-7	breast:	n/a
3	chr1:221916107-221916157	K562	blood:	n/a
4	chr1:221916107-221916157	PFSK-1	brain:	n/a
5	chr1:221916107-221916157	HEK293	kidney:	embryo
6	chr1:221916107-221916157	HEEpiC	esophagus:	n/a
7	chr1:221916107-221916157	GM12891	blood:	n/a
8	chr1:221916107-221916157	BJ	skin:	n/a
9	chr1:221916107-221916157	SK-N-SH	brain:	n/a
10	chr1:221916107-221916157	NB4	blood:	n/a
11	chr1:221916107-221916157	H1-hESC	embryonic stem cell:	embryo
12	chr1:221916107-221916157	Caco-2	colon:	n/a
13	chr1:221916107-221916157	SK-N-MC	brain:	n/a
14	chr1:221916107-221916157	GM06990	blood:	n/a
15	chr1:221916107-221916157	IMR90	lung:	fetal
16	chr1:221916107-221916157	HCT-116	colon:	n/a
17	chr1:221916107-221916157	HAEpiC	amniotic membrane:	n/a
18	chr1:221916107-221916157	NH-A	brain:	n/a
19	chr1:221916107-221916157	A549	lung:	n/a
20	chr1:221916107-221916157	HNPCEpiC	eye:	n/a
21	chr1:221916107-221916157	T-47D	breast:	n/a
22	chr1:221916107-221916157	Hela-S3	cervix:	n/a
23	chr1:221916107-221916157	ProgFib	skin:	n/a
24	chr1:221916107-221916157	U87	brain:	n/a
25	chr1:221916107-221916157	NHDF-neo	bronchial:	n/a
26	chr1:221916107-221916157	SK-N-SH_RA	brain:	n/a
27	chr1:221916107-221916157	CMK	blood:	n/a
28	chr1:221916107-221916157	BE2_C	brain:	n/a
29	chr1:221916107-221916157	AoSMC	blood vessel:	n/a
30	chr1:221916107-221916157	AG09319	gingival:	n/a
31	chr1:221916107-221916157	HUVEC	blood vessel:	n/a
32	chr1:221916107-221916157	LNCaP	prostate:	n/a
33	chr1:221916107-221916157	ECC-1	luminal epithelium:	n/a
34	chr1:221916107-221916157	NT2-D1	testis:	n/a
35	chr1:221916107-221916157	HRE	kidney:	n/a
36	chr1:221916107-221916157	HIPEpiC	eye:	n/a
37	chr1:221916107-221916157	HMEC	breast:	n/a
38	chr1:221916107-221916157	PrEC	prostate:	n/a
39	chr1:221916107-221916157	SKMC	muscle:	n/a
40	chr1:221916107-221916157	GM12892	blood:	n/a
41	chr1:221916107-221916157	AG04450	lung:	fetal
42	chr1:221916107-221916157	HPAEpiC	pulmonary alveolar:	n/a
43	chr1:221916107-221916157	HepG2	liver:	n/a
44	chr1:221916107-221916157	GM12878	blood:	n/a
45	chr1:221916107-221916157	HL-60	blood:	n/a
46	chr1:221916107-221916157	HCPEpiC	choroid plexus:	n/a
47	chr1:221916107-221916157	HCF	heart:	n/a
48	chr1:221916107-221916157	RPTEC	kidney:	n/a
49	chr1:221916107-221916157	MCF10A-Er-Src	breast:	n/a
50	chr1:221916107-221916157	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:221915688..221916409-chr2:62650123..62650945,2	K562	blood:
2	chr1:221882652..221891989-chr1:221912814..221917285,15	K562	blood:
3	chr1:221915687..221916241-chr15:75931897..75932605,2	Hela-S3	cervix:
4	chr1:221910710..221913145-chr1:221916027..221918858,3	MCF-7	breast:
5	chr1:221915773..221917564-chr1:221920253..221922492,3	MCF-7	breast:
6	chr1:221915759..221916417-chr1:222152532..222153272,2	MCF-7	breast:
7	chr1:221915818..221916811-chr12:3067401..3068090,2	Hela-S3	cervix:
8	chr1:221886657..221890286-chr1:221915663..221918002,3	MCF-7	breast:
9	chr1:210546811..210547476-chr1:221915732..221916703,2	Hela-S3	cervix:
10	chr1:221915847..221918268-chr1:222049176..222051061,2	K562	blood:
11	chr1:221914898..221917139-chr1:222150225..222152993,2	MCF-7	breast:
12	chr1:221915958..221917862-chr1:221982281..221984311,2	MCF-7	breast:
13	chr1:221915785..221917176-chr1:222059774..222060678,4	MCF-7	breast:
14	chr1:221915716..221917980-chr1:222052338..222055276,2	MCF-7	breast:
15	chr1:221915932..221916628-chr1:222182306..222183086,2	MCF-7	breast:
16	chr1:221915763..221917609-chr1:221970690..221972444,2	MCF-7	breast:
17	chr1:221915737..221916640-chr7:100463746..100464357,2	Hela-S3	cervix:

Variant related genes	Relation type
DUSP10	TF binding region
DUSP10	CpG island
ENSG00000143507	Chromatin interaction
ENSG00000177971	Chromatin interaction
ENSG00000238042	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv3423401	chr1:221915354-221917902	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221911400-221916800	Active TSS	Brain Anterior Caudate	brain
2	chr1:221911600-221917200	Active TSS	Brain Angular Gyrus	brain
3	chr1:221911800-221916800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr1:221912200-221916800	Active TSS	Colon Smooth Muscle	Colon
5	chr1:221912400-221916800	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr1:221912800-221917000	Active TSS	Brain Hippocampus Middle	brain
7	chr1:221912800-221917000	Active TSS	Brain Substantia Nigra	brain
8	chr1:221912800-221917200	Active TSS	HSMMtube	muscle
9	chr1:221913000-221916600	Active TSS	Fetal Muscle Trunk	muscle
10	chr1:221913000-221917400	Active TSS	Brain Cingulate Gyrus	brain
11	chr1:221913200-221916800	Active TSS	Fetal Brain Female	brain
12	chr1:221913200-221917000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:221913200-221917000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:221913200-221917000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:221913200-221917000	Active TSS	NHLF	lung
16	chr1:221913200-221917400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:221913400-221917000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:221913400-221917000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:221913400-221917000	Active TSS	NHDF-Ad	bronchial
20	chr1:221913400-221917400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr1:221913600-221916600	Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr1:221913600-221916800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:221913600-221916800	Active TSS	Liver	Liver
24	chr1:221913600-221916800	Active TSS	HMEC	breast
25	chr1:221913600-221916800	Active TSS	NH-A	brain
26	chr1:221913600-221917000	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr1:221913600-221917000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:221913600-221917000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:221913600-221917000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr1:221913600-221917200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr1:221913600-221917200	Active TSS	Right Atrium	heart
32	chr1:221913800-221916800	Active TSS	Rectal Smooth Muscle	rectum
33	chr1:221913800-221916800	Active TSS	HSMM	muscle
34	chr1:221913800-221917000	Active TSS	GM12878-XiMat	blood
35	chr1:221914000-221916200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:221914000-221917000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:221914000-221917000	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr1:221914000-221917000	Active TSS	Ovary	ovary
39	chr1:221914000-221917000	Active TSS	Placenta Amnion	Placenta Amnion
40	chr1:221914000-221917200	Active TSS	Psoas Muscle	Psoas
41	chr1:221914200-221916600	Active TSS	Primary T cells fromperipheralblood	blood
42	chr1:221914200-221916600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr1:221914200-221916600	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr1:221914200-221916600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr1:221914200-221916800	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr1:221914200-221916800	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr1:221914200-221916800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:221914200-221916800	Active TSS	Small Intestine	intestine
49	chr1:221914200-221916800	Active TSS	Stomach Smooth Muscle	stomach
50	chr1:221914200-221917000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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