Variant report

Variant	rs4588700
Chromosome Location	chr6:150259249-150259250
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr6:150259063-150259447	HepG2	liver:	n/a	n/a
2	CTCF	chr6:150259171-150259350	GM13976	blood:	n/a	n/a
3	NR2F2	chr6:150258956-150259515	K562	blood:	n/a	n/a
4	SPI1	chr6:150259202-150259487	K562	blood:	n/a	chr6:150259448-150259455
5	RXRA	chr6:150259101-150259401	HepG2	liver:	n/a	n/a
6	JUND	chr6:150259185-150259317	HepG2	liver:	n/a	n/a
7	CTCF	chr6:150259115-150259383	ProgFib	skin:	n/a	n/a
8	POLR2A	chr6:150259064-150259514	GM12878	blood:	n/a	n/a
9	CTCF	chr6:150259108-150259406	MCF-7	breast:	n/a	n/a
10	HEY1	chr6:150259191-150259516	K562	blood:	n/a	n/a
11	IRF4	chr6:150259083-150259533	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:150259167-150259399	MCF-7	breast:	n/a	n/a
13	CTCF	chr6:150259153-150259361	LNCaP	prostate:	n/a	n/a
14	CTCF	chr6:150259129-150259391	MCF-7	breast:	n/a	n/a
15	TCF3	chr6:150259112-150259379	GM12878	blood:	n/a	n/a
16	CTCF	chr6:150259084-150259428	A549	lung:	n/a	n/a
17	CTCF	chr6:150259118-150259397	MCF-7	breast:	n/a	n/a
18	CTCF	chr6:150259162-150259360	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr6:150259013-150259386	A549	lung:	n/a	n/a
20	CTCF	chr6:150259125-150259405	NHEK	skin:	n/a	n/a
21	CTCF	chr6:150259119-150259392	GM12891	blood:	n/a	n/a
22	CTCF	chr6:150259112-150259398	Hela-S3	cervix:	n/a	n/a
23	JUND	chr6:150259144-150259391	HepG2	liver:	n/a	n/a
24	CTCF	chr6:150259046-150259469	A549	lung:	n/a	n/a
25	CTCF	chr6:150259117-150259378	Lung_OC	lung:	n/a	n/a
26	POLR2A	chr6:150259076-150259478	GM12891	blood:	n/a	n/a
27	CTCF	chr6:150259114-150259390	A549	lung:	n/a	n/a
28	CTCF	chr6:150259113-150259399	A549	lung:	n/a	n/a
29	CTCF	chr6:150259064-150259427	K562	blood:	n/a	n/a
30	CTCF	chr6:150259183-150259282	LNCaP	prostate:	n/a	n/a
31	CTCF	chr6:150259154-150259376	Medullo	brain:	n/a	n/a
32	CTCF	chr6:150259136-150259382	GM10266	blood:	n/a	n/a
33	CTCF	chr6:150259123-150259400	MCF-7	breast:	n/a	n/a
34	CTCF	chr6:150259124-150259390	Fibrobl	skin:	n/a	n/a
35	CTCF	chr6:150259152-150259383	GM19239	blood:	n/a	n/a
36	POLR2A	chr6:150259141-150259614	U87	brain:	n/a	n/a
37	CTCF	chr6:150259043-150259408	K562	blood:	n/a	n/a
38	TEAD4	chr6:150259005-150259409	H1-hESC	embryonic stem cell:	n/a	n/a
39	POU2F2	chr6:150258991-150259492	GM12878	blood:	n/a	chr6:150259306-150259318
40	CTCF	chr6:150259139-150259393	HUVEC	blood vessel:	n/a	n/a
41	TEAD4	chr6:150259048-150259444	H1-hESC	embryonic stem cell:	n/a	n/a
42	PAX5	chr6:150259153-150259348	GM12878	blood:	n/a	n/a
43	POLR2A	chr6:150258985-150259697	H1-hESC	embryonic stem cell:	n/a	n/a
44	POU2F2	chr6:150259152-150259324	GM12878	blood:	n/a	chr6:150259306-150259318
45	CTCF	chr6:150259133-150259380	GM10248	blood:	n/a	n/a
46	CTCF	chr6:150259125-150259395	GM19238	blood:	n/a	n/a
47	IRF4	chr6:150259015-150259486	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:150259214-150259450	MCF-7	breast:	n/a	n/a
49	CTCF	chr6:150259111-150259402	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr6:150259128-150259386	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:150258514..150260378-chr6:150337573..150339969,2	MCF-7	breast:
2	chr6:149846576..149848106-chr6:150258402..150260712,2	K562	blood:
3	chr6:150255165..150257260-chr6:150258635..150261924,3	MCF-7	breast:
4	chr6:150257396..150260080-chr6:150261360..150264274,3	MCF-7	breast:

No data

Variant related genes	Relation type
ULBP2	TF binding region
ENSG00000131015	Chromatin interaction
ENSG00000216621	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6557202	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv886765	chr6:150198491-150288722	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1817805	chr6:150209592-150268708	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv3332714	chr6:150259037-150275045	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150256800-150259400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:150258000-150259600	Bivalent Enhancer	GM12878-XiMat	blood
3	chr6:150258600-150259400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:150258800-150259400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr6:150258800-150259400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
6	chr6:150258800-150259400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:150258800-150259400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
8	chr6:150258800-150259400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:150258800-150259400	Enhancers	HMEC	breast
10	chr6:150258800-150259400	Bivalent Enhancer	Osteobl	bone
11	chr6:150258800-150259600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
12	chr6:150258800-150259600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
13	chr6:150258800-150259600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:150258800-150259800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:150259000-150259400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
16	chr6:150259000-150259400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:150259000-150259400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:150259000-150259400	Bivalent Enhancer	A549	lung
19	chr6:150259000-150259400	Active TSS	NHEK	skin
20	chr6:150259000-150259600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
21	chr6:150259000-150259600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr6:150259200-150259400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
23	chr6:150259200-150259400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
24	chr6:150259200-150259400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
25	chr6:150259200-150259400	Bivalent/Poised TSS	HSMM	muscle
26	chr6:150259200-150259600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr6:150259200-150259600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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