Variant report

Variant	rs555853078
Chromosome Location	chr6:166795114-166795115
allele	G/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	RUNX3	chr6:166794810-166795151	GM12878	blood:	n/a	n/a
2	NFIC	chr6:166794941-166795767	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:166794615-166795488	MCF10A-Er-Src	breast:	n/a	n/a
4	SIN3AK20	chr6:166795056-166797610	HCT-116	colon:	n/a	n/a
5	RELA	chr6:166795011-166795762	GM19099	blood:	n/a	n/a
6	ZNF384	chr6:166794539-166795778	K562	blood:	n/a	n/a
7	CTCF	chr6:166795074-166795766	HCT-116	colon:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
8	SMC3	chr6:166794980-166795593	HepG2	liver:	n/a	chr6:166795473-166795487
9	MBD4	chr6:166795014-166795696	HepG2	liver:	n/a	n/a
10	JUND	chr6:166794646-166795669	K562	blood:	n/a	n/a
11	EP300	chr6:166794857-166795612	K562	blood:	n/a	chr6:166795246-166795260
12	FOS	chr6:166795104-166795392	MCF10A-Er-Src	breast:	n/a	n/a
13	MAZ	chr6:166794830-166795777	GM12878	blood:	n/a	n/a
14	MYC	chr6:166794974-166797461	K562	blood:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
15	TBL1XR1	chr6:166794885-166795602	GM12878	blood:	n/a	n/a
16	CTCF	chr6:166795080-166795971	SK-N-SH	brain:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
17	TEAD4	chr6:166795060-166795855	K562	blood:	n/a	n/a
18	RCOR1	chr6:166795090-166795587	HepG2	liver:	n/a	n/a
19	TEAD4	chr6:166795008-166795659	HepG2	liver:	n/a	n/a
20	STAT3	chr6:166794972-166795181	MCF10A-Er-Src	breast:	n/a	n/a
21	MYC	chr6:166795040-166795469	MCF10A-Er-Src	breast:	n/a	n/a
22	MYBL2	chr6:166794818-166795750	HepG2	liver:	n/a	n/a
23	RAD21	chr6:166795105-166795777	HCT-116	colon:	n/a	chr6:166795473-166795487
24	CTCF	chr6:166795106-166795769	MCF-7	breast:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
25	SMC3	chr6:166795113-166795815	GM12878	blood:	n/a	chr6:166795473-166795487
26	MAX	chr6:166794998-166795685	NB4	blood:	n/a	n/a
27	FOXM1	chr6:166794956-166795843	GM12878	blood:	n/a	n/a
28	CTCF	chr6:166794896-166795909	K562	blood:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
29	NFIC	chr6:166795092-166795632	HepG2	liver:	n/a	n/a
30	CTCF	chr6:166795019-166795814	HCT-116	colon:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
31	MXI1	chr6:166795012-166795753	GM12878	blood:	n/a	n/a
32	TBP	chr6:166794853-166795496	GM12878	blood:	n/a	n/a
33	BHLHE40	chr6:166795026-166795846	K562	blood:	n/a	n/a
34	UBTF	chr6:166794945-166797541	K562	blood:	n/a	n/a
35	RUNX3	chr6:166794745-166795699	GM12878	blood:	n/a	n/a
36	MYC	chr6:166795062-166795850	K562	blood:	n/a	n/a
37	RAD21	chr6:166795026-166795730	HepG2	liver:	n/a	chr6:166795473-166795487
38	NFATC1	chr6:166795084-166795642	GM12878	blood:	n/a	n/a
39	PML	chr6:166794876-166795772	GM12878	blood:	n/a	n/a
40	MXI1	chr6:166794850-166797629	SK-N-SH	brain:	n/a	chr6:166796910-166796919 chr6:166796912-166796921
41	HEY1	chr6:166795103-166795645	HepG2	liver:	n/a	n/a
42	TBP	chr6:166794991-166795603	HepG2	liver:	n/a	n/a
43	CTCF	chr6:166795075-166795799	A549	lung:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
44	NR2F2	chr6:166794956-166796079	K562	blood:	n/a	n/a
45	RAD21	chr6:166794560-166795848	SK-N-SH	brain:	n/a	chr6:166795473-166795487
46	ESRRA	chr6:166794969-166797532	GM12878	blood:	n/a	chr6:166795686-166795695 chr6:166796862-166796881 chr6:166795738-166795757 chr6:166795686-166795700 chr6:166795681-166795700 chr6:166795686-166795705 chr6:166795685-166795701 chr6:166795684-166795702 chr6:166795743-166795757 chr6:166795743-166795752
47	ELK1	chr6:166795068-166795475	K562	blood:	n/a	n/a
48	CHD1	chr6:166794902-166795761	IMR90	lung:	n/a	n/a
49	CREB1	chr6:166795112-166795923	GM12878	blood:	n/a	n/a
50	NFIC	chr6:166795101-166795661	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:166753320..166757958-chr6:166794622..166799153,8	K562	blood:
2	chr6:166743072..166748840-chr6:166793771..166798653,8	K562	blood:
3	chr6:166726357..166727438-chr6:166794885..166795636,3	K562	blood:
4	chr6:166750705..166753304-chr6:166793796..166795469,2	K562	blood:
5	chr6:166744077..166744772-chr6:166795075..166795860,2	MCF-7	breast:
6	chr6:166751804..166757558-chr6:166793969..166799153,5	K562	blood:
7	chr6:166383156..166385383-chr6:166793262..166795662,2	K562	blood:
8	chr6:166743853..166744743-chr6:166794927..166795865,3	K562	blood:

Variant related genes	Relation type
ENSG00000261420	TF binding region
ENSG00000233231	Chromatin interaction
ENSG00000198818	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	esv3376653	chr6:166783590-166798116	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3422353	chr6:166794787-166797335	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166777400-166795400	Weak transcription	Gastric	stomach
2	chr6:166780600-166795400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:166791000-166795200	Weak transcription	Left Ventricle	heart
4	chr6:166793000-166795400	Weak transcription	Lung	lung
5	chr6:166794200-166795200	Flanking Active TSS	Liver	Liver
6	chr6:166794400-166795200	Enhancers	Fetal Brain Male	brain
7	chr6:166794400-166795400	Weak transcription	Pancreas	Pancrea
8	chr6:166794400-166795600	Active TSS	HepG2	liver
9	chr6:166794400-166796400	Active TSS	Right Atrium	heart
10	chr6:166794400-166797600	Active TSS	GM12878-XiMat	blood
11	chr6:166794400-166797800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr6:166794400-166798000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:166794600-166795200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:166794600-166795200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:166794600-166795200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr6:166794600-166795200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr6:166794600-166795200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr6:166794600-166795200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:166794600-166795200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr6:166794600-166795200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:166794600-166795200	Enhancers	Brain Cingulate Gyrus	brain
22	chr6:166794600-166795200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr6:166794600-166795400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr6:166794600-166795400	Active TSS	Thymus	Thymus
25	chr6:166794600-166795600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:166794600-166795600	Active TSS	Brain Germinal Matrix	brain
27	chr6:166794600-166795600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:166794600-166796000	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr6:166794600-166796000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:166794600-166796000	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr6:166794600-166797600	Active TSS	Psoas Muscle	Psoas
32	chr6:166794600-166797600	Active TSS	Right Ventricle	heart
33	chr6:166794600-166797800	Active TSS	Brain Angular Gyrus	brain
34	chr6:166794600-166797800	Active TSS	NHEK	skin
35	chr6:166794800-166795200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:166794800-166795200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr6:166794800-166795200	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr6:166794800-166795200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:166794800-166795200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr6:166794800-166795200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:166794800-166795200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr6:166794800-166795200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr6:166794800-166795200	Flanking Active TSS	Fetal Brain Female	brain
44	chr6:166794800-166795200	Flanking Active TSS	Fetal Kidney	kidney
45	chr6:166794800-166795200	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr6:166794800-166795200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr6:166794800-166795200	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr6:166794800-166795200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr6:166794800-166795200	Flanking Active TSS	Osteobl	bone
50	chr6:166794800-166795400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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