Variant report

Variant	rs551086583
Chromosome Location	chr6:56911125-56911126
allele	-/ATCT
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	YY1	chr6:56911099-56911646	SK-N-SH_RA	brain:	n/a	chr6:56911530-56911544
2	TAF1	chr6:56911120-56911627	K562	blood:	n/a	n/a
3	POLR2A	chr6:56911030-56912350	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr6:56911092-56911752	GM19193	blood:	n/a	n/a
5	POLR2A	chr6:56911075-56911635	ECC-1	luminal epithelium:	n/a	n/a
6	MXI1	chr6:56910842-56911694	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr6:56911041-56911624	K562	blood:	n/a	n/a
8	POLR2A	chr6:56911088-56912542	Hela-S3	cervix:	n/a	n/a
9	MAX	chr6:56911113-56911608	HepG2	liver:	n/a	n/a
10	POLR2A	chr6:56911039-56911704	K562	blood:	n/a	n/a
11	NFIC	chr6:56911007-56911655	HepG2	liver:	n/a	n/a
12	ZKSCAN1	chr6:56910942-56911419	Hela-S3	cervix:	n/a	n/a
13	TAF1	chr6:56911069-56911982	A549	lung:	n/a	n/a
14	HDAC2	chr6:56911074-56911548	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr6:56910960-56911741	MCF10A-Er-Src	breast:	n/a	n/a
16	ZBTB33	chr6:56911091-56911599	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr6:56911082-56911702	GM15510	blood:	n/a	n/a
18	SIN3AK20	chr6:56911064-56911656	MCF-7	breast:	n/a	n/a
19	MAX	chr6:56910986-56911611	HCT-116	colon:	n/a	n/a
20	RCOR1	chr6:56910836-56911588	Hela-S3	cervix:	n/a	n/a
21	TEAD4	chr6:56911007-56911701	HepG2	liver:	n/a	n/a
22	E2F6	chr6:56911080-56911597	H1-hESC	embryonic stem cell:	n/a	chr6:56911473-56911485
23	PML	chr6:56911006-56911662	K562	blood:	n/a	n/a
24	MYBL2	chr6:56910972-56912267	HepG2	liver:	n/a	n/a
25	CUX1	chr6:56910888-56911459	K562	blood:	n/a	n/a
26	TBL1XR1	chr6:56911103-56911540	K562	blood:	n/a	n/a
27	TCF7L2	chr6:56911115-56911525	PANC-1	pancreas:	n/a	chr6:56911116-56911130 chr6:56911115-56911131
28	PAX5	chr6:56911096-56912003	GM12878	blood:	n/a	n/a
29	POLR2A	chr6:56911077-56912261	Hela-S3	cervix:	n/a	n/a
30	YY1	chr6:56911112-56911666	HepG2	liver:	n/a	chr6:56911530-56911544
31	POLR2A	chr6:56911114-56911796	HepG2	liver:	n/a	n/a
32	POLR2A	chr6:56911023-56912997	K562	blood:	n/a	n/a
33	GABPA	chr6:56911070-56911584	SK-N-SH	brain:	n/a	n/a
34	HDAC2	chr6:56911066-56911627	HepG2	liver:	n/a	n/a
35	POLR2A	chr6:56911082-56911679	Hela-S3	cervix:	n/a	n/a
36	BCLAF1	chr6:56910944-56911564	GM12878	blood:	n/a	n/a
37	REST	chr6:56910847-56911671	H1-neurons	neurons:	n/a	n/a
38	E2F6	chr6:56910951-56911604	A549	lung:	n/a	chr6:56911473-56911485
39	TAF1	chr6:56911099-56911638	K562	blood:	n/a	n/a
40	PML	chr6:56910921-56911684	GM12878	blood:	n/a	n/a
41	ELF1	chr6:56911075-56911593	SK-N-SH	brain:	n/a	n/a
42	FOXM1	chr6:56910947-56911960	GM12878	blood:	n/a	n/a
43	YY1	chr6:56911119-56911647	GM12892	blood:	n/a	chr6:56911530-56911544
44	MAX	chr6:56910909-56911612	Hela-S3	cervix:	n/a	n/a
45	PAX5	chr6:56911099-56912816	GM12878	blood:	n/a	n/a
46	HEY1	chr6:56911081-56913115	K562	blood:	n/a	chr6:56911755-56911770
47	POLR2A	chr6:56911097-56912668	GM12891	blood:	n/a	n/a
48	CEBPD	chr6:56911119-56912534	K562	blood:	n/a	n/a
49	EGR1	chr6:56911093-56911579	MCF-7	breast:	n/a	chr6:56911244-56911258
50	RFX5	chr6:56911114-56911532	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:62609199..62609722-chr6:56910991..56911946,2	Hela-S3	cervix:
2	chr6:56817930..56821539-chr6:56909452..56912838,6	K562	blood:
3	chr6:56910595..56916200-chr6:57035587..57038867,7	K562	blood:
4	chr6:56816669..56821714-chr6:56908406..56912975,10	K562	blood:

Variant related genes	Relation type
KIAA1586	TF binding region
ENSG00000133316	Chromatin interaction
ENSG00000151917	Chromatin interaction
ENSG00000151914	Chromatin interaction
ENSG00000112208	Chromatin interaction
ENSG00000226803	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv3430228	chr6:56830972-57079281	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1026524	chr6:56902544-56951703	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking 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	12 gene(s)	inside rSNPs	diseases
8	nsv970717	chr6:56903957-56955783	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv885913	chr6:56910884-56954439	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56910400-56911800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:56910400-56911800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
3	chr6:56910600-56911200	Flanking Active TSS	Dnd41	blood
4	chr6:56910600-56911800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:56910600-56911800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:56910600-56911800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:56910800-56911200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:56910800-56911200	Active TSS	Fetal Brain Male	brain
9	chr6:56910800-56911200	Flanking Active TSS	NH-A	brain
10	chr6:56910800-56911200	Flanking Active TSS	Osteobl	bone
11	chr6:56910800-56911400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:56910800-56911400	Flanking Active TSS	HUVEC	blood vessel
13	chr6:56910800-56911600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr6:56910800-56911600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:56910800-56911600	Active TSS	Liver	Liver
16	chr6:56910800-56911600	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr6:56910800-56911600	Active TSS	GM12878-XiMat	blood
18	chr6:56910800-56911800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:56910800-56911800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:56910800-56911800	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr6:56910800-56911800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr6:56910800-56911800	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr6:56910800-56911800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:56910800-56911800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:56910800-56911800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:56910800-56911800	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr6:56910800-56911800	Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr6:56910800-56911800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:56910800-56911800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:56910800-56911800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:56910800-56911800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:56910800-56911800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:56910800-56911800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:56910800-56911800	Active TSS	Adipose Nuclei	Adipose
35	chr6:56910800-56911800	Active TSS	Brain Anterior Caudate	brain
36	chr6:56910800-56911800	Active TSS	Brain Cingulate Gyrus	brain
37	chr6:56910800-56911800	Active TSS	Brain Germinal Matrix	brain
38	chr6:56910800-56911800	Active TSS	Fetal Brain Female	brain
39	chr6:56910800-56911800	Active TSS	Fetal Kidney	kidney
40	chr6:56910800-56911800	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr6:56910800-56911800	Active TSS	Rectal Smooth Muscle	rectum
42	chr6:56910800-56911800	Active TSS	Right Ventricle	heart
43	chr6:56910800-56911800	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr6:56910800-56911800	Active TSS	Thymus	Thymus
45	chr6:56910800-56911800	Active TSS	A549	lung
46	chr6:56910800-56911800	Active TSS	HMEC	breast
47	chr6:56910800-56911800	Active TSS	NHDF-Ad	bronchial
48	chr6:56910800-56911800	Active TSS	NHLF	lung
49	chr6:56911000-56911200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr6:56911000-56911200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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