Variant report

Variant	rs181180986
Chromosome Location	chr6:28048306-28048307
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	TCF12	chr6:28048284-28049226	A549	lung:	n/a	chr6:28049156-28049166
2	POLR2A	chr6:28048297-28049476	Hela-S3	cervix:	n/a	n/a
3	REST	chr6:28048128-28049752	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr6:28047731-28049467	NB4	blood:	n/a	n/a
5	CTCF	chr6:28048200-28048350	GM12865	blood:	n/a	n/a
6	NR2F2	chr6:28047509-28049480	K562	blood:	n/a	n/a
7	POLR2A	chr6:28048221-28049109	U87	brain:	n/a	n/a
8	FOXM1	chr6:28047590-28049058	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr6:28047698-28049297	H1-hESC	embryonic stem cell:	n/a	n/a
10	HEY1	chr6:28047637-28049220	HepG2	liver:	n/a	chr6:28048968-28048977 chr6:28048970-28048979
11	POLR2A	chr6:28048263-28049234	K562	blood:	n/a	n/a
12	TRIM28	chr6:28047564-28049117	K562	blood:	n/a	n/a
13	POLR2A	chr6:28047555-28049544	GM12892	blood:	n/a	n/a
14	MAX	chr6:28048268-28049286	A549	lung:	n/a	n/a
15	POLR2A	chr6:28047558-28049528	GM12892	blood:	n/a	n/a
16	MTA3	chr6:28048266-28049727	GM12878	blood:	n/a	n/a
17	KAP1	chr6:28047912-28049105	HEK293	kidney:	n/a	n/a
18	POLR2A	chr6:28047825-28049375	Hela-S3	cervix:	n/a	n/a
19	PML	chr6:28048263-28049034	K562	blood:	n/a	n/a
20	NRF1	chr6:28048297-28049633	SK-N-SH	brain:	n/a	chr6:28048648-28048659
21	POLR2A	chr6:28047643-28049592	GM12878	blood:	n/a	n/a
22	JUN	chr6:28047615-28050070	K562	blood:	n/a	chr6:28048968-28048981 chr6:28048969-28048978 chr6:28048475-28048484
23	ZEB1	chr6:28047705-28048366	GM12878	blood:	n/a	chr6:28048058-28048067
24	POLR2A	chr6:28047603-28049531	H1-hESC	embryonic stem cell:	n/a	n/a
25	FOXM1	chr6:28047615-28048327	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr6:28047639-28049375	Hela-S3	cervix:	n/a	n/a
27	MAX	chr6:28047660-28049588	K562	blood:	n/a	n/a
28	CREB1	chr6:28048262-28049456	K562	blood:	n/a	chr6:28048967-28048980
29	MYBL2	chr6:28047592-28049250	HepG2	liver:	n/a	n/a
30	POLR2A	chr6:28047775-28049225	K562	blood:	n/a	n/a
31	POLR2A	chr6:28047627-28049376	K562	blood:	n/a	n/a
32	POLR2A	chr6:28047735-28049138	HCT-116	colon:	n/a	n/a
33	MYBL2	chr6:28048274-28049194	HepG2	liver:	n/a	n/a
34	MYC	chr6:28047784-28048315	MCF10A-Er-Src	breast:	n/a	n/a
35	ESRRA	chr6:28047631-28049989	GM12878	blood:	n/a	chr6:28048696-28048709
36	POLR2A	chr6:28047813-28049595	HepG2	liver:	n/a	n/a
37	TEAD4	chr6:28048249-28049451	K562	blood:	n/a	n/a
38	POLR2A	chr6:28048227-28049103	U87	brain:	n/a	n/a
39	POLR2A	chr6:28047613-28049313	Hela-S3	cervix:	n/a	n/a
40	NFIC	chr6:28048258-28049651	GM12878	blood:	n/a	n/a
41	POLR2A	chr6:28047720-28049558	Raji	blood:	n/a	n/a
42	CBX3	chr6:28047582-28049486	K562	blood:	n/a	n/a
43	POLR2A	chr6:28047807-28049511	GM19193	blood:	n/a	n/a
44	POLR2A	chr6:28047679-28049327	H1-hESC	embryonic stem cell:	n/a	n/a
45	MYC	chr6:28047729-28049151	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr6:28047803-28049584	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr6:28047732-28049220	K562	blood:	n/a	n/a
48	POLR2A	chr6:28047731-28049731	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr6:28047786-28049126	MCF10A-Er-Src	breast:	n/a	chr6:28048970-28048979 chr6:28048968-28048977 chr6:28048937-28048944 chr6:28048907-28048916
50	POLR2A	chr6:28047692-28049375	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:27858986..27862091-chr6:28047541..28050017,3	K562	blood:
2	chr6:27859779..27863183-chr6:28046529..28048591,3	MCF-7	breast:
3	chr6:28046886..28048721-chr6:28303106..28304865,2	K562	blood:
4	chr6:27803974..27806831-chr6:28047434..28050953,3	K562	blood:
5	chr6:28046527..28048657-chr6:28057860..28059913,2	MCF-7	breast:
6	chr13:39260551..39262193-chr6:28047138..28049723,2	MCF-7	breast:
7	chr6:27858116..27862502-chr6:28047404..28050448,4	K562	blood:
8	chr6:28047155..28050172-chr6:28104375..28106249,3	K562	blood:
9	chr6:28046681..28048670-chr6:28358880..28361224,2	K562	blood:
10	chr6:28044713..28049958-chr6:28107484..28111355,5	K562	blood:
11	chr6:27805460..27807795-chr6:28047138..28049507,2	MCF-7	breast:

Variant related genes	Relation type
ZNF165	TF binding region
ENSG00000233822	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000261839	Chromatin interaction
ENSG00000219891	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000150893	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000198315	Chromatin interaction
ENSG00000269293	Chromatin interaction
ENSG00000197153	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	nsv830619	chr6:27872302-28062544	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv33436	chr6:28044346-28049043	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv823466	chr6:28046620-28048635	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv823467	chr6:28046710-28048540	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr6:28047000-28048400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:28047200-28049000	Active TSS	Monocytes-CD14+_RO01746	blood
3	chr6:28047200-28049200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:28047200-28049400	Active TSS	Hela-S3	cervix
5	chr6:28047400-28049200	Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr6:28047400-28049200	Active TSS	Colonic Mucosa	Colon
7	chr6:28047400-28049200	Active TSS	Duodenum Mucosa	Duodenum
8	chr6:28047400-28049200	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr6:28047400-28049200	Active TSS	K562	blood
10	chr6:28047400-28051400	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr6:28047600-28048400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr6:28047600-28048400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:28047600-28049000	Active TSS	Primary monocytes fromperipheralblood	blood
14	chr6:28047600-28049000	Active TSS	Liver	Liver
15	chr6:28047600-28049000	Active TSS	GM12878-XiMat	blood
16	chr6:28047600-28049200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:28047600-28049200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:28047600-28049200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:28047600-28049200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:28047600-28049200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:28047600-28049200	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr6:28047600-28049400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr6:28047600-28049400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr6:28047600-28049400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:28047600-28049400	Active TSS	Fetal Intestine Large	intestine
26	chr6:28047600-28049600	Active TSS	H9 Cell Line	embryonic stem cell
27	chr6:28047600-28049600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:28047600-28049600	Active TSS	Fetal Intestine Small	intestine
29	chr6:28047600-28049600	Active TSS	Fetal Kidney	kidney
30	chr6:28047600-28049800	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr6:28047600-28049800	Active TSS	H1 Cell Line	embryonic stem cell
32	chr6:28047600-28049800	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr6:28047600-28049800	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr6:28047600-28049800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:28047600-28049800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:28047600-28050000	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr6:28047600-28050000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:28047600-28050200	Active TSS	HMEC	breast
39	chr6:28047600-28051400	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr6:28047800-28048400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr6:28047800-28048400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr6:28047800-28048400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr6:28047800-28048600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr6:28047800-28049000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:28047800-28049000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr6:28047800-28049000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:28047800-28049000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:28047800-28049200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:28047800-28049200	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr6:28047800-28049200	Active TSS	Fetal Stomach	stomach

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