Variant report

Variant	rs143443263
Chromosome Location	chr6:26251888-26251889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:302)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2F1	chr6:26251648-26252123	H1-hESC	embryonic stem cell:	n/a	n/a
2	TAF1	chr6:26251742-26252014	Hela-S3	cervix:	n/a	n/a
3	TAL1	chr6:26251812-26251985	K562	blood:	n/a	n/a
4	ATF2	chr6:26251607-26252164	GM12878	blood:	n/a	n/a
5	YY1	chr6:26251752-26252216	GM12892	blood:	n/a	n/a
6	RCOR1	chr6:26251802-26252049	K562	blood:	n/a	n/a
7	HEY1	chr6:26251679-26252285	K562	blood:	n/a	n/a
8	CTCF	chr6:26251820-26251970	GM12871	blood:	n/a	n/a
9	SIN3AK20	chr6:26251449-26252306	MCF-7	breast:	n/a	n/a
10	ELF1	chr6:26251804-26252418	GM12878	blood:	n/a	n/a
11	RUNX3	chr6:26251728-26252261	GM12878	blood:	n/a	n/a
12	MXI1	chr6:26251512-26252615	IMR90	lung:	n/a	n/a
13	RXRA	chr6:26251459-26252050	GM12878	blood:	n/a	n/a
14	MAFK	chr6:26251654-26251948	K562	blood:	n/a	n/a
15	RAD21	chr6:26251770-26252368	IMR90	lung:	n/a	n/a
16	TEAD4	chr6:26251613-26252446	K562	blood:	n/a	n/a
17	RELA	chr6:26251680-26252537	GM18526	blood:	n/a	n/a
18	POLR2A	chr6:26251683-26252224	SK-N-MC	brain:	n/a	n/a
19	MYC	chr6:26251684-26252052	NB4	blood:	n/a	n/a
20	ELF1	chr6:26251681-26252331	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:26251677-26252340	HepG2	liver:	n/a	n/a
22	POLR2A	chr6:26251708-26252623	Hela-S3	cervix:	n/a	n/a
23	HEY1	chr6:26251726-26252652	HepG2	liver:	n/a	n/a
24	MYC	chr6:26251676-26251909	K562	blood:	n/a	n/a
25	USF2	chr6:26251771-26252542	Hela-S3	cervix:	n/a	n/a
26	BATF	chr6:26251743-26252147	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:26251681-26252755	GM12878	blood:	n/a	n/a
28	RCOR1	chr6:26251633-26252152	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr6:26251847-26251960	K562	blood:	n/a	n/a
30	NFIC	chr6:26251435-26252590	GM12878	blood:	n/a	n/a
31	REST	chr6:26251688-26252071	SK-N-SH	brain:	n/a	n/a
32	SIN3AK20	chr6:26251784-26252069	HepG2	liver:	n/a	n/a
33	NFYB	chr6:26250969-26251890	Hela-S3	cervix:	n/a	chr6:26251178-26251190 chr6:26251742-26251756 chr6:26251708-26251722 chr6:26251176-26251191 chr6:26251177-26251187
34	RUNX3	chr6:26251621-26252368	GM12878	blood:	n/a	n/a
35	POLR2A	chr6:26251639-26252773	Hela-S3	cervix:	n/a	n/a
36	TEAD4	chr6:26251745-26252275	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr6:26251676-26253185	GM10847	blood:	n/a	n/a
38	MYC	chr6:26251666-26252004	MCF10A-Er-Src	breast:	n/a	n/a
39	YY1	chr6:26251804-26252186	GM12891	blood:	n/a	n/a
40	CEBPD	chr6:26251656-26252135	K562	blood:	n/a	n/a
41	POLR2A	chr6:26251713-26252154	K562	blood:	n/a	n/a
42	CHD2	chr6:26251563-26252232	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr6:26251667-26252129	IMR90	lung:	n/a	n/a
44	PBX3	chr6:26251733-26252045	GM12878	blood:	n/a	n/a
45	POLR2A	chr6:26251500-26252711	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr6:26251603-26253863	H1-hESC	embryonic stem cell:	n/a	n/a
47	EP300	chr6:26251732-26252191	GM12878	blood:	n/a	n/a
48	TBL1XR1	chr6:26251848-26251990	K562	blood:	n/a	n/a
49	POLR2A	chr6:26251678-26253020	GM15510	blood:	n/a	n/a
50	SIN3AK20	chr6:26251685-26252204	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26250131..26252759-chr9:103947028..103949743,2	MCF-7	breast:
2	chr17:57917544..57919779-chr6:26251722..26253377,3	MCF-7	breast:
3	chr6:26251588..26253194-chr6:27805528..27807609,2	MCF-7	breast:
4	chr6:26250835..26253676-chr6:27791814..27793929,3	MCF-7	breast:
5	chr6:26251146..26253311-chr6:27798112..27799639,2	MCF-7	breast:
6	chr6:26251055..26254665-chr6:27113819..27116327,4	MCF-7	breast:
7	chr1:149856764..149859696-chr6:26251811..26254710,2	MCF-7	breast:
8	chr6:26249129..26252003-chr6:27832611..27836378,6	MCF-7	breast:
9	chr6:26250350..26252961-chr6:27100694..27103484,2	K562	blood:
10	chr5:175962855..175964855-chr6:26250361..26252546,2	MCF-7	breast:
11	chr17:59475732..59477627-chr6:26249790..26252547,2	MCF-7	breast:
12	chr6:26248843..26252508-chr6:27859565..27863258,4	K562	blood:
13	chr6:26032854..26035580-chr6:26251207..26253979,3	MCF-7	breast:
14	chr6:26251387..26252142-chr7:100472118..100473007,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
HIST1H3F	TF binding region
HIST1H4G	TF binding region
ENSG00000197914	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000148123	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000197238	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000184357	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000146083	Chromatin interaction
ENSG00000198374	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
5	nsv1025237	chr6:25874326-26280867	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
6	nsv538163	chr6:25874326-26280867	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
7	nsv428137	chr6:25987413-26351920	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1181 gene(s)	inside rSNPs	diseases
8	nsv916992	chr6:25991630-26280921	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1159 gene(s)	inside rSNPs	diseases
9	nsv1028232	chr6:26005449-26319756	Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1171 gene(s)	inside rSNPs	diseases
10	nsv870314	chr6:26008435-26280807	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1151 gene(s)	inside rSNPs	diseases
11	nsv1023457	chr6:26014014-26305407	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1170 gene(s)	inside rSNPs	diseases
12	nsv1023979	chr6:26026870-26287399	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1113 gene(s)	inside rSNPs	diseases
13	nsv1015782	chr6:26026870-26323895	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1114 gene(s)	inside rSNPs	diseases
14	nsv1018665	chr6:26026870-26352046	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1116 gene(s)	inside rSNPs	diseases
15	nsv482348	chr6:26082709-26261136	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	799 gene(s)	inside rSNPs	diseases
16	nsv601173	chr6:26239404-26322524	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	184 gene(s)	inside rSNPs	diseases
17	nsv981112	chr6:26251729-26252345	Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26249200-26254000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:26249200-26254200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:26249200-26254600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr6:26249400-26252000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr6:26249400-26252400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
6	chr6:26249400-26252600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr6:26249400-26253000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr6:26249400-26253200	Active TSS	Fetal Lung	lung
9	chr6:26249400-26253400	Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr6:26249400-26253400	Active TSS	K562	blood
11	chr6:26249400-26254000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:26249400-26254000	Active TSS	Fetal Kidney	kidney
13	chr6:26249400-26254200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr6:26249400-26254200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:26249400-26254200	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr6:26249400-26254200	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr6:26249400-26254200	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr6:26249400-26254200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:26249600-26252000	Active TSS	Placenta	Placenta
20	chr6:26249600-26252400	Active TSS	Fetal Heart	heart
21	chr6:26249600-26253400	Active TSS	Fetal Brain Female	brain
22	chr6:26249600-26253600	Active TSS	Duodenum Mucosa	Duodenum
23	chr6:26249600-26253800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:26249600-26253800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
25	chr6:26249600-26254000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:26249600-26254000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:26249600-26254000	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr6:26249600-26254000	Active TSS	GM12878-XiMat	blood
29	chr6:26249600-26254200	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr6:26249600-26254200	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr6:26249600-26254200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:26249600-26254200	Active TSS	Fetal Stomach	stomach
33	chr6:26249600-26254200	Active TSS	NHLF	lung
34	chr6:26249600-26254800	Active TSS	Thymus	Thymus
35	chr6:26249600-26255400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:26249800-26252000	Active TSS	Fetal Muscle Leg	muscle
37	chr6:26249800-26252200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:26249800-26252400	Active TSS	Aorta	Aorta
39	chr6:26249800-26252400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
40	chr6:26249800-26252400	Active TSS	Placenta Amnion	Placenta Amnion
41	chr6:26249800-26252600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
42	chr6:26249800-26252600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
43	chr6:26249800-26252800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr6:26249800-26253000	Active TSS	Primary B cells from peripheral blood	blood
45	chr6:26249800-26253000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr6:26249800-26253000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:26249800-26253200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr6:26249800-26253400	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr6:26249800-26253800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr6:26249800-26254000	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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