Variant report

Variant	rs557038646
Chromosome Location	chr6:15247883-15247884
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	CREB1	chr6:15247870-15249858	GM12878	blood:	n/a	chr6:15248972-15248985 chr6:15249021-15249034
2	GATA3	chr6:15247675-15248356	MCF-7	breast:	n/a	chr6:15247976-15247983 chr6:15247975-15247983 chr6:15247972-15247988
3	CREB1	chr6:15247845-15250008	K562	blood:	n/a	chr6:15248972-15248985 chr6:15249021-15249034
4	NR2F2	chr6:15246711-15248457	K562	blood:	n/a	n/a
5	MAFK	chr6:15247651-15247985	HepG2	liver:	n/a	n/a
6	TBP	chr6:15247837-15248429	K562	blood:	n/a	n/a
7	RAD21	chr6:15244609-15249567	IMR90	lung:	n/a	chr6:15248721-15248734 chr6:15249188-15249197
8	IRF1	chr6:15246040-15248311	K562	blood:	n/a	chr6:15246366-15246380 chr6:15246928-15246942 chr6:15246535-15246551 chr6:15246364-15246384 chr6:15246366-15246376
9	GATA2	chr6:15246600-15248381	SH-SY5Y	brain:	n/a	chr6:15247976-15247983 chr6:15247972-15247988
10	GATA2	chr6:15246768-15248361	HUVEC	blood vessel:	n/a	chr6:15247976-15247983 chr6:15247972-15247988
11	GATA3	chr6:15247787-15248277	MCF-7	breast:	n/a	chr6:15247976-15247983 chr6:15247975-15247983 chr6:15247972-15247988
12	BRCA1	chr6:15247563-15248145	H1-hESC	embryonic stem cell:	n/a	n/a
13	HCFC1	chr6:15244775-15250295	Hela-S3	cervix:	n/a	n/a
14	NR2F2	chr6:15247817-15248408	K562	blood:	n/a	n/a
15	POLR2A	chr6:15245570-15248437	PBDE	blood:	n/a	n/a
16	GATA3	chr6:15247531-15248493	MCF-7	breast:	n/a	chr6:15247976-15247983 chr6:15247975-15247983 chr6:15247972-15247988
17	GATA3	chr6:15247838-15248401	T-47D	breast:	n/a	chr6:15247976-15247983 chr6:15247975-15247983 chr6:15247972-15247988
18	CHD1	chr6:15244739-15251552	IMR90	lung:	n/a	chr6:15245627-15245637 chr6:15245113-15245123
19	IRF1	chr6:15247301-15248309	K562	blood:	n/a	n/a
20	ZNF384	chr6:15245901-15248319	K562	blood:	n/a	n/a
21	GATA1	chr6:15245851-15248403	PBDE	blood:	n/a	chr6:15247976-15247983 chr6:15246000-15246008 chr6:15247972-15247988
22	MXI1	chr6:15243797-15248662	SK-N-SH	brain:	n/a	n/a
23	REST	chr6:15247751-15250156	H1-neurons	neurons:	n/a	chr6:15249880-15249888 chr6:15249689-15249697 chr6:15249264-15249274
24	RCOR1	chr6:15247869-15248556	Hela-S3	cervix:	n/a	n/a
25	MXI1	chr6:15244534-15249045	IMR90	lung:	n/a	n/a
26	MAFK	chr6:15247691-15248154	HepG2	liver:	n/a	n/a
27	MXI1	chr6:15247786-15248406	K562	blood:	n/a	n/a
28	MYC	chr6:15247191-15248141	MCF10A-Er-Src	breast:	n/a	n/a
29	TAF7	chr6:15247190-15248601	H1-hESC	embryonic stem cell:	n/a	n/a
30	TEAD4	chr6:15247812-15248389	K562	blood:	n/a	n/a
31	PML	chr6:15247770-15248354	K562	blood:	n/a	n/a
32	GATA3	chr6:15247596-15248381	SK-N-SH	brain:	n/a	chr6:15247976-15247983 chr6:15247975-15247983 chr6:15247972-15247988
33	POLR2A	chr6:15247881-15248620	H1-hESC	embryonic stem cell:	n/a	n/a
34	GATA3	chr6:15247769-15248194	T-47D	breast:	n/a	chr6:15247976-15247983 chr6:15247975-15247983 chr6:15247972-15247988
35	TCF7L2	chr6:15246810-15248342	HEK293	kidney:	n/a	chr6:15247063-15247077 chr6:15247065-15247074
36	NFYB	chr6:15247474-15248036	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:15244299-15251638	IMR90	lung:	n/a	n/a
38	MAZ	chr6:15244502-15250215	IMR90	lung:	n/a	chr6:15245090-15245099 chr6:15245854-15245864 chr6:15245068-15245078 chr6:15245035-15245044 chr6:15246339-15246347 chr6:15245866-15245875
39	SIN3AK20	chr6:15247682-15250303	MCF-7	breast:	n/a	n/a
40	MAFK	chr6:15247721-15248200	K562	blood:	n/a	n/a
41	ZNF384	chr6:15247431-15247992	GM12878	blood:	n/a	n/a
42	SREBP1	chr6:15245460-15248455	GM12878	blood:	n/a	chr6:15245880-15245890 chr6:15245881-15245892
43	MAX	chr6:15247831-15250040	Hela-S3	cervix:	n/a	n/a
44	SIN3A	chr6:15244262-15249916	H1-hESC	embryonic stem cell:	n/a	chr6:15245781-15245794 chr6:15245860-15245873 chr6:15246111-15246122 chr6:15248713-15248724
45	GATA3	chr6:15246729-15248467	SK-N-SH	brain:	n/a	chr6:15247976-15247983 chr6:15247975-15247983 chr6:15247972-15247988
46	POLR2A	chr6:15245041-15248416	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr6:15247818-15248474	SK-N-MC	brain:	n/a	n/a
48	POLR2A	chr6:15247882-15249979	Hela-S3	cervix:	n/a	n/a
49	EP300	chr6:15247835-15248300	GM12878	blood:	n/a	n/a
50	HMGN3	chr6:15247871-15249340	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:14695043..14697656-chr6:15246930..15248844,2	K562	blood:
2	chr6:15246564..15248126-chr6:15304464..15306021,2	K562	blood:
3	chr6:15247857..15248661-chr6:15441250..15442133,2	MCF-7	breast:
4	chr6:15085986..15094450-chr6:15243173..15249347,32	MCF-7	breast:
5	chr6:15238350..15240596-chr6:15246578..15248795,2	MCF-7	breast:
6	chr6:15088518..15090840-chr6:15243708..15248817,8	MCF-7	breast:
7	chr18:57566476..57568620-chr6:15247479..15249980,2	K562	blood:
8	chr6:15087836..15090279-chr6:15247303..15249952,4	K562	blood:
9	chr6:15090854..15092609-chr6:15247191..15248815,2	MCF-7	breast:
10	chr6:15147856..15151805-chr6:15244004..15248641,4	MCF-7	breast:
11	chr6:15087697..15092455-chr6:15243972..15249952,11	K562	blood:
12	chr6:15247440..15249791-chr6:15324617..15327427,3	K562	blood:

Variant related genes	Relation type
JARID2	TF binding region
ENSG00000271888	TF binding region
ENSG00000264687	Chromatin interaction
ENSG00000141682	Chromatin interaction
ENSG00000234261	Chromatin interaction
ENSG00000201519	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830594	chr6:15171158-15261296	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv538142	chr6:15243960-15404893	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription 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	27 gene(s)	inside rSNPs	diseases
7	esv1818166	chr6:15247393-15250052	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	esv3426622	chr6:15247498-15250346	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3511820	chr6:15247723-15249971	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv3511821	chr6:15247723-15249971	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr6:15243200-15248400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:15243600-15250200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:15243800-15248400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr6:15244000-15250000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:15244200-15249400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr6:15244200-15249800	Active TSS	Rectal Smooth Muscle	rectum
7	chr6:15244400-15249200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr6:15244400-15249400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:15244400-15249600	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr6:15244400-15250200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:15244400-15250400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:15244600-15248400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:15244600-15248400	Active TSS	NHDF-Ad	bronchial
14	chr6:15244600-15249200	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr6:15244600-15249200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:15244600-15249200	Active TSS	Duodenum Mucosa	Duodenum
17	chr6:15244600-15249200	Active TSS	NH-A	brain
18	chr6:15244600-15249200	Active TSS	Osteobl	bone
19	chr6:15244600-15249400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr6:15244600-15249400	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr6:15244600-15249400	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr6:15244600-15249400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:15244600-15249400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:15244600-15249400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:15244600-15249400	Active TSS	Brain Anterior Caudate	brain
26	chr6:15244600-15249400	Active TSS	Fetal Intestine Large	intestine
27	chr6:15244600-15249400	Active TSS	Thymus	Thymus
28	chr6:15244600-15249400	Active TSS	HSMM	muscle
29	chr6:15244600-15249600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:15244600-15249600	Active TSS	Brain Angular Gyrus	brain
31	chr6:15244600-15249600	Active TSS	Right Ventricle	heart
32	chr6:15244600-15249800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:15244600-15249800	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr6:15244600-15249800	Active TSS	Ovary	ovary
35	chr6:15244600-15249800	Active TSS	Psoas Muscle	Psoas
36	chr6:15244600-15250000	Active TSS	NHLF	lung
37	chr6:15244600-15250200	Active TSS	A549	lung
38	chr6:15244600-15250400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr6:15244800-15249200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:15244800-15249200	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr6:15244800-15249200	Active TSS	Left Ventricle	heart
42	chr6:15244800-15249200	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr6:15244800-15249400	Active TSS	Brain Substantia Nigra	brain
44	chr6:15244800-15249400	Active TSS	Fetal Kidney	kidney
45	chr6:15244800-15249400	Active TSS	Fetal Lung	lung
46	chr6:15244800-15249400	Active TSS	Lung	lung
47	chr6:15244800-15249600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:15244800-15249600	Active TSS	Gastric	stomach
49	chr6:15244800-15249600	Active TSS	HSMMtube	muscle
50	chr6:15244800-15249800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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