Variant report

Variant	rs147966386
Chromosome Location	chr6:26457929-26457930
allele	-/GA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:90)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:90 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:26457732-26458496	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr6:26457809-26458439	HCT-116	colon:	n/a	n/a
3	RFX5	chr6:26457500-26458604	HepG2	liver:	n/a	chr6:26458073-26458081
4	RFX5	chr6:26457415-26458654	H1-hESC	embryonic stem cell:	n/a	chr6:26458073-26458081
5	POLR2A	chr6:26457531-26458968	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr6:26457926-26459108	GM12878	blood:	n/a	n/a
7	RFX5	chr6:26457505-26458747	Hela-S3	cervix:	n/a	chr6:26458073-26458081
8	POLR2A	chr6:26457501-26458632	SK-N-MC	brain:	n/a	n/a
9	HEY1	chr6:26457711-26458361	HepG2	liver:	n/a	n/a
10	TCF12	chr6:26457855-26458432	A549	lung:	n/a	n/a
11	SP1	chr6:26457826-26458289	A549	lung:	n/a	n/a
12	EBF1	chr6:26457873-26458573	GM12878	blood:	n/a	chr6:26458170-26458181 chr6:26457896-26457905 chr6:26457894-26457907
13	RFX5	chr6:26457689-26458570	GM12878	blood:	n/a	chr6:26458073-26458081
14	CTCF	chr6:26457820-26457970	HPAF	blood vessel:	n/a	n/a
15	YY1	chr6:26457852-26458722	SK-N-SH	brain:	n/a	chr6:26458514-26458528 chr6:26458205-26458214 chr6:26458201-26458217 chr6:26458194-26458216 chr6:26458206-26458216
16	RAD21	chr6:26457775-26458318	HepG2	liver:	n/a	n/a
17	PML	chr6:26457802-26458632	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:26457928-26459145	GM12892	blood:	n/a	n/a
19	BHLHE40	chr6:26457911-26458325	GM12878	blood:	n/a	n/a
20	TAF1	chr6:26457748-26458617	PFSK-1	brain:	n/a	n/a
21	CTCF	chr6:26457840-26457990	AG09319	gingival:	n/a	n/a
22	CREB1	chr6:26457694-26458460	H1-hESC	embryonic stem cell:	n/a	n/a
23	YY1	chr6:26457771-26458588	SK-N-SH_RA	brain:	n/a	chr6:26458514-26458528 chr6:26458205-26458214 chr6:26458201-26458217 chr6:26458194-26458216 chr6:26458206-26458216
24	GTF2F1	chr6:26457922-26458273	K562	blood:	n/a	n/a
25	RCOR1	chr6:26457844-26458024	K562	blood:	n/a	n/a
26	CREB1	chr6:26457902-26458347	H1-hESC	embryonic stem cell:	n/a	n/a
27	RFX5	chr6:26457201-26460386	IMR90	lung:	n/a	chr6:26458073-26458081
28	CREB1	chr6:26457710-26458627	GM12878	blood:	n/a	n/a
29	POLR2A	chr6:26457887-26458966	HepG2	liver:	n/a	n/a
30	CREB1	chr6:26457844-26458354	ECC-1	luminal epithelium:	n/a	n/a
31	PML	chr6:26457879-26458635	K562	blood:	n/a	n/a
32	CUX1	chr6:26457879-26458035	K562	blood:	n/a	n/a
33	SRF	chr6:26457844-26458598	MCF-7	breast:	n/a	chr6:26458201-26458214 chr6:26458196-26458213 chr6:26458198-26458212 chr6:26458197-26458215 chr6:26458199-26458213 chr6:26458202-26458216
34	NR2F2	chr6:26457626-26458784	K562	blood:	n/a	n/a
35	CTCF	chr6:26457800-26457950	Caco-2	colon:	n/a	n/a
36	MAX	chr6:26457615-26457979	K562	blood:	n/a	n/a
37	HEY1	chr6:26457655-26458408	HepG2	liver:	n/a	n/a
38	TEAD4	chr6:26457527-26458433	HepG2	liver:	n/a	n/a
39	POLR2A	chr6:26457834-26458512	U87	brain:	n/a	n/a
40	CTCF	chr6:26457820-26457970	AG10803	skin:	n/a	n/a
41	POLR2A	chr6:26457763-26458934	Hela-S3	cervix:	n/a	n/a
42	ZNF143	chr6:26457909-26458285	K562	blood:	n/a	n/a
43	CREB1	chr6:26457695-26458664	GM12878	blood:	n/a	n/a
44	RFX5	chr6:26457336-26458607	K562	blood:	n/a	chr6:26458073-26458081
45	CREB1	chr6:26457583-26458682	HepG2	liver:	n/a	n/a
46	MYC	chr6:26457846-26458023	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr6:26457870-26458512	U87	brain:	n/a	n/a
48	TBL1XR1	chr6:26457896-26458335	K562	blood:	n/a	n/a
49	CREB1	chr6:26457759-26458372	ECC-1	luminal epithelium:	n/a	n/a
50	MAZ	chr6:26457743-26457935	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:26457928-26457978	AG04450	lung:	fetal
2	chr6:26457928-26457978	BE2_C	brain:	n/a
3	chr6:26457928-26457978	AG09309	skin:	n/a
4	chr6:26457928-26457978	GM06990	blood:	n/a
5	chr6:26457928-26457978	MCF10A-Er-Src	breast:	n/a
6	chr6:26457928-26457978	HCPEpiC	choroid plexus:	n/a
7	chr6:26457928-26457978	NHBE	bronchial:	n/a
8	chr6:26457928-26457978	HUVEC	blood vessel:	n/a
9	chr6:26457928-26457978	HRE	kidney:	n/a
10	chr6:26457928-26457978	GM19239	blood:	n/a
11	chr6:26457928-26457978	SKMC	muscle:	n/a
12	chr6:26457928-26457978	PrEC	prostate:	n/a
13	chr6:26457928-26457978	HIPEpiC	eye:	n/a
14	chr6:26457928-26457978	HRPEpiC	eye:	n/a
15	chr6:26457928-26457978	AoSMC	blood vessel:	n/a
16	chr6:26457928-26457978	NH-A	brain:	n/a
17	chr6:26457928-26457978	NB4	blood:	n/a
18	chr6:26457928-26457978	SK-N-SH_RA	brain:	n/a
19	chr6:26457928-26457978	AG10803	skin:	n/a
20	chr6:26457928-26457978	A549	lung:	n/a
21	chr6:26457928-26457978	PFSK-1	brain:	n/a
22	chr6:26457928-26457978	AG04449	skin:	fetal
23	chr6:26457928-26457978	Jurkat	blood:	n/a
24	chr6:26457928-26457978	AG09319	gingival:	n/a
25	chr6:26457928-26457978	K562	blood:	n/a
26	chr6:26457928-26457978	NT2-D1	testis:	n/a
27	chr6:26457928-26457978	HCT-116	colon:	n/a
28	chr6:26457928-26457978	HEK293	kidney:	embryo
29	chr6:26457928-26457978	GM12878	blood:	n/a
30	chr6:26457928-26457978	Hepatocyte	liver:	n/a
31	chr6:26457928-26457978	SK-N-SH	brain:	n/a
32	chr6:26457928-26457978	ProgFib	skin:	n/a
33	chr6:26457928-26457978	BJ	skin:	n/a
34	chr6:26457928-26457978	HepG2	liver:	n/a
35	chr6:26457928-26457978	NHDF-neo	bronchial:	n/a
36	chr6:26457928-26457978	HRCEpiC	kidney:	n/a
37	chr6:26457928-26457978	HNPCEpiC	eye:	n/a
38	chr6:26457928-26457978	ovcar-3	ovarian:	n/a
39	chr6:26457928-26457978	IMR90	lung:	fetal
40	chr6:26457928-26457978	SK-N-MC	brain:	n/a
41	chr6:26457928-26457978	Caco-2	colon:	n/a
42	chr6:26457928-26457978	ECC-1	luminal epithelium:	n/a
43	chr6:26457928-26457978	GM12891	blood:	n/a
44	chr6:26457928-26457978	MCF-7	breast:	n/a
45	chr6:26457928-26457978	HAEpiC	amniotic membrane:	n/a
46	chr6:26457928-26457978	CMK	blood:	n/a
47	chr6:26457928-26457978	HPAEpiC	pulmonary alveolar:	n/a
48	chr6:26457928-26457978	LNCaP	prostate:	n/a
49	chr6:26457928-26457978	U87	brain:	n/a
50	chr6:26457928-26457978	Hela-S3	cervix:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62609075..62609632-chr6:26457866..26458649,2	NB4	blood:
2	chr6:26449553..26453974-chr6:26454911..26459271,5	K562	blood:
3	chr6:26158231..26160273-chr6:26456660..26458707,2	K562	blood:
4	chr6:26420361..26423136-chr6:26455979..26458036,3	MCF-7	breast:

No data

Variant related genes	Relation type
BTN2A1	TF binding region
BTN2A1	CpG island
ENSG00000133316	Chromatin interaction
ENSG00000111801	Chromatin interaction
ENSG00000124549	Chromatin interaction
ENSG00000158373	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
4	nsv482729	chr6:26291011-26470898	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv482836	chr6:26352883-26520964	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv482407	chr6:26369320-26550148	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	esv2763996	chr6:26423901-26465384	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1017824	chr6:26425410-26465384	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers 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	16 gene(s)	inside rSNPs	diseases
9	nsv1030289	chr6:26428314-26464017	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv1033003	chr6:26428314-26465384	Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv1031229	chr6:26428314-26467182	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
12	nsv1031238	chr6:26428314-26471596	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv1024483	chr6:26429262-26465384	Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv1034561	chr6:26429262-26467182	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv528172	chr6:26430981-26463660	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats 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	15 gene(s)	inside rSNPs	diseases
16	nsv1029357	chr6:26432815-26464789	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
17	nsv1023581	chr6:26432815-26465384	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
18	nsv1024222	chr6:26432815-26467182	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
19	nsv1022309	chr6:26434914-26464789	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
20	nsv601185	chr6:26455811-26465384	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
21	nsv965689	chr6:26457033-26469487	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26446400-26458200	Weak transcription	Gastric	stomach
2	chr6:26450800-26458200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:26456400-26458200	Weak transcription	Lung	lung
4	chr6:26457200-26458000	Flanking Active TSS	Dnd41	blood
5	chr6:26457400-26458000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:26457400-26458000	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr6:26457400-26458000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:26457400-26458000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:26457400-26458000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:26457400-26458000	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr6:26457400-26458000	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr6:26457400-26458000	Flanking Active TSS	HSMM	muscle
13	chr6:26457400-26458000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr6:26457600-26458000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:26457600-26458000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:26457600-26458000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:26457600-26458000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr6:26457600-26458000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr6:26457600-26458000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:26457600-26458000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr6:26457600-26458000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:26457600-26458000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:26457600-26458000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:26457600-26458000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr6:26457600-26458000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr6:26457600-26458000	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr6:26457600-26458000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr6:26457600-26458000	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr6:26457600-26458000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr6:26457600-26458000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr6:26457600-26458000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:26457600-26458000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr6:26457600-26458000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr6:26457600-26458000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr6:26457600-26458000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:26457600-26458000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr6:26457600-26458000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr6:26457600-26458000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:26457600-26458000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:26457600-26458000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:26457600-26458000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:26457600-26458000	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr6:26457600-26458000	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr6:26457600-26458000	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr6:26457600-26458000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr6:26457600-26458000	Flanking Active TSS	Fetal Brain Male	brain
47	chr6:26457600-26458000	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr6:26457600-26458000	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr6:26457600-26458000	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr6:26457600-26458000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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