Variant report

Variant	rs555635380
Chromosome Location	chr1:151319042-151319043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr1:151318526-151320878	K562	blood:	n/a	chr1:151319898-151319907
2	POLR2A	chr1:151318989-151320181	PFSK-1	brain:	n/a	n/a
3	TBL1XR1	chr1:151318994-151320357	K562	blood:	n/a	n/a
4	CHD1	chr1:151318391-151320339	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:151318786-151319783	GM12891	blood:	n/a	n/a
6	POLR2A	chr1:151318162-151320843	GM12891	blood:	n/a	n/a
7	NFATC1	chr1:151318852-151320382	GM12878	blood:	n/a	n/a
8	CREB1	chr1:151318982-151320152	K562	blood:	n/a	n/a
9	ATF2	chr1:151319041-151320532	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:151318153-151320828	GM12878	blood:	n/a	n/a
11	SRF	chr1:151318961-151320329	MCF-7	breast:	n/a	n/a
12	NFIC	chr1:151319021-151320287	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:151319001-151319871	GM12891	blood:	n/a	n/a
14	POLR2A	chr1:151319031-151320122	K562	blood:	n/a	n/a
15	POLR2A	chr1:151318910-151320385	SK-N-MC	brain:	n/a	n/a
16	TBP	chr1:151318761-151320510	H1-hESC	embryonic stem cell:	n/a	n/a
17	IRF1	chr1:151318962-151320175	K562	blood:	n/a	chr1:151319967-151319981 chr1:151319674-151319685 chr1:151319669-151319683 chr1:151319673-151319683 chr1:151319968-151319978 chr1:151319963-151319976 chr1:151319671-151319685 chr1:151319967-151319981
18	POLR2A	chr1:151318952-151319978	HUVEC	blood vessel:	n/a	n/a
19	REST	chr1:151318839-151320475	H1-neurons	neurons:	n/a	n/a
20	BACH1	chr1:151319040-151319668	K562	blood:	n/a	n/a
21	POLR2A	chr1:151319010-151320237	PFSK-1	brain:	n/a	n/a
22	SIN3AK20	chr1:151318993-151320557	MCF-7	breast:	n/a	n/a
23	TBL1XR1	chr1:151318955-151320416	GM12878	blood:	n/a	n/a
24	MXI1	chr1:151318693-151320793	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr1:151318024-151320829	GM12878	blood:	n/a	n/a
26	POLR2A	chr1:151318867-151320281	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr1:151313010-151321039	H1-hESC	embryonic stem cell:	n/a	n/a
28	RFX5	chr1:151318109-151321030	IMR90	lung:	n/a	chr1:151319898-151319907
29	FOXM1	chr1:151318938-151320290	GM12878	blood:	n/a	n/a
30	MXI1	chr1:151318508-151320617	GM12878	blood:	n/a	n/a
31	PML	chr1:151318114-151320984	GM12878	blood:	n/a	n/a
32	SP1	chr1:151319014-151320241	A549	lung:	n/a	chr1:151319409-151319423 chr1:151319614-151319625
33	NFATC1	chr1:151318995-151319762	GM12878	blood:	n/a	n/a
34	POLR2A	chr1:151318575-151320368	GM18505	blood:	n/a	n/a
35	ATF2	chr1:151318965-151320358	GM12878	blood:	n/a	n/a
36	MAZ	chr1:151318682-151320281	IMR90	lung:	n/a	n/a
37	POLR2A	chr1:151318275-151320712	GM19099	blood:	n/a	n/a
38	POLR2A	chr1:151318961-151320201	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr1:151318087-151320713	GM12892	blood:	n/a	n/a
40	REST	chr1:151319020-151320196	A549	lung:	n/a	n/a
41	POLR2A	chr1:151318867-151319868	GM12892	blood:	n/a	n/a
42	POLR2A	chr1:151318605-151320783	Raji	blood:	n/a	n/a
43	RFX5	chr1:151318550-151320829	Hela-S3	cervix:	n/a	chr1:151319898-151319907
44	CREB1	chr1:151318702-151320458	GM12878	blood:	n/a	n/a
45	ATF2	chr1:151318975-151319711	H1-hESC	embryonic stem cell:	n/a	n/a
46	RFX5	chr1:151318094-151320965	SK-N-SH	brain:	n/a	chr1:151319898-151319907
47	RFX5	chr1:151318928-151320719	HepG2	liver:	n/a	chr1:151319898-151319907
48	TAF1	chr1:151319023-151320374	GM12878	blood:	n/a	n/a
49	BRCA1	chr1:151319042-151319738	H1-hESC	embryonic stem cell:	n/a	n/a
50	RELA	chr1:151318951-151320482	GM12878	blood:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151258574..151260250-chr1:151316879..151319085,2	MCF-7	breast:
2	chr1:151166423..151168363-chr1:151318010..151319809,2	MCF-7	breast:
3	chr1:151298559..151302678-chr1:151316998..151321426,11	MCF-7	breast:
4	chr1:151317602..151320403-chr1:151337333..151341038,5	MCF-7	breast:
5	chr1:151316826..151319751-chr1:151342092..151344070,3	MCF-7	breast:
6	chr1:151298650..151301104-chr1:151317671..151320176,4	MCF-7	breast:
7	chr1:151297227..151300315-chr1:151316951..151319680,4	K562	blood:
8	1:151309061-151322694..1:151592347-151603110	GM12878	blood:
9	chr1:151318199..151320967-chr1:151371516..151373553,2	K562	blood:
10	chr1:151264932..151267959-chr1:151318358..151320538,3	MCF-7	breast:
11	chr1:151317711..151320188-chr1:151340050..151342553,3	K562	blood:
12	chr1:151298409..151301460-chr1:151318358..151322178,4	K562	blood:
13	chr1:151318180..151322621-chr1:151370786..151375600,7	K562	blood:
14	chr1:151253402..151256437-chr1:151318501..151320102,3	MCF-7	breast:
15	chr1:151253871..151258133-chr1:151311236..151320814,17	K562	blood:
16	1:151171193-151178589..1:151309061-151322694	Hela-S3	cervix:
17	chr1:151253042..151255866-chr1:151318395..151322175,4	K562	blood:
18	chr1:151317450..151322791-chr1:151370457..151374000,10	MCF-7	breast:
19	chr1:151317584..151319682-chr1:151339209..151341519,2	MCF-7	breast:
20	chr1:151317585..151319121-chr1:151341611..151344384,2	MCF-7	breast:
21	chr1:151252248..151255623-chr1:151318407..151321879,5	MCF-7	breast:
22	chr1:151318980..151319798-chr1:151371884..151372449,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237976	TF binding region
RFX5	TF binding region
ENSG00000143398	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000273481	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143416	Chromatin interaction
ENSG00000163159	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000206635	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	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
3	esv2754960	chr1:151240542-151331304	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers 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	53 gene(s)	inside rSNPs	diseases
7	nsv438026	chr1:151318733-151344703	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151317200-151319200	Weak transcription	Small Intestine	intestine
2	chr1:151317800-151319200	Weak transcription	Ovary	ovary
3	chr1:151318200-151319200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr1:151318200-151319200	Enhancers	Fetal Heart	heart
5	chr1:151318200-151319200	Flanking Active TSS	HUVEC	blood vessel
6	chr1:151318200-151319400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr1:151318400-151319200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
8	chr1:151318400-151319200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr1:151318400-151319200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:151318400-151319200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:151318400-151319200	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr1:151318400-151319200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr1:151318400-151319200	Flanking Active TSS	Fetal Brain Male	brain
14	chr1:151318400-151319200	Flanking Active TSS	NH-A	brain
15	chr1:151318400-151319200	Transcr. at gene 5' and 3'	NHLF	lung
16	chr1:151318400-151319400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:151318400-151319400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:151318600-151319200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:151318600-151319200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:151318600-151319200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr1:151318600-151319200	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr1:151318600-151319200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:151318600-151319200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr1:151318600-151319200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:151318600-151319200	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr1:151318600-151319200	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr1:151318600-151319200	Weak transcription	Lung	lung
28	chr1:151318600-151319200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr1:151318600-151319200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr1:151318600-151319200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr1:151318600-151319200	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr1:151318600-151319200	Flanking Active TSS	HepG2	liver
33	chr1:151318600-151319200	Flanking Active TSS	HMEC	breast
34	chr1:151318600-151319200	Flanking Active TSS	K562	blood
35	chr1:151318600-151319400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr1:151318600-151319400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr1:151318600-151319400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr1:151318600-151319400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr1:151318600-151319400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr1:151318600-151319400	Flanking Active TSS	Osteobl	bone
41	chr1:151318600-151319800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:151318600-151320200	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr1:151318600-151320200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:151318600-151320200	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr1:151318600-151320200	Active TSS	Esophagus	oesophagus
46	chr1:151318600-151320400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:151318600-151320400	Active TSS	GM12878-XiMat	blood
48	chr1:151318800-151319200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:151318800-151319200	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr1:151318800-151319200	Flanking Active TSS	Primary B cells from peripheral blood	blood

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