Variant report

Variant	rs529203430
Chromosome Location	chr6:150259661-150259662
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	POU2F2	chr6:150259634-150260290	GM12878	blood:	n/a	n/a
2	ESRRA	chr6:150259409-150261022	GM12878	blood:	n/a	n/a
3	MAX	chr6:150259494-150260357	MCF-7	breast:	n/a	n/a
4	MAX	chr6:150259478-150260211	A549	lung:	n/a	n/a
5	STAT5A	chr6:150259607-150260650	GM12878	blood:	n/a	chr6:150260046-150260057 chr6:150260395-150260403
6	E2F6	chr6:150259624-150259910	K562	blood:	n/a	chr6:150259811-150259821
7	MTA3	chr6:150259483-150260474	GM12878	blood:	n/a	n/a
8	TCF3	chr6:150259487-150260386	GM12878	blood:	n/a	chr6:150260307-150260320
9	PML	chr6:150259565-150260502	GM12878	blood:	n/a	n/a
10	MAX	chr6:150259555-150260120	A549	lung:	n/a	n/a
11	POLR2A	chr6:150259567-150260354	GM12892	blood:	n/a	n/a
12	MYC	chr6:150259661-150259883	MCF-7	breast:	n/a	n/a
13	E2F6	chr6:150259613-150259955	H1-hESC	embryonic stem cell:	n/a	chr6:150259811-150259821
14	E2F6	chr6:150259485-150260203	A549	lung:	n/a	chr6:150259811-150259821
15	EP300	chr6:150259648-150260398	GM12878	blood:	n/a	n/a
16	MAX	chr6:150259547-150260053	K562	blood:	n/a	n/a
17	SUZ12	chr6:150259426-150261085	NT2-D1	testis:	n/a	n/a
18	MAX	chr6:150259610-150260406	GM12878	blood:	n/a	n/a
19	SP1	chr6:150259623-150260348	GM12878	blood:	n/a	chr6:150259674-150259688 chr6:150260201-150260210
20	BHLHE40	chr6:150259646-150260401	GM12878	blood:	n/a	chr6:150259658-150259674
21	MAX	chr6:150259599-150259967	SK-N-SH	brain:	n/a	n/a
22	SUZ12	chr6:150259414-150260894	H1-hESC	embryonic stem cell:	n/a	n/a
23	NFIC	chr6:150259606-150260364	GM12878	blood:	n/a	n/a
24	POLR2A	chr6:150258985-150259697	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr6:150259508-150260096	MCF-7	breast:	n/a	n/a
26	MAX	chr6:150259539-150260096	ECC-1	luminal epithelium:	n/a	n/a
27	RELA	chr6:150259621-150260308	GM12892	blood:	n/a	n/a
28	RUNX3	chr6:150259597-150260527	GM12878	blood:	n/a	n/a
29	FOXM1	chr6:150259649-150260432	GM12878	blood:	n/a	n/a
30	RCOR1	chr6:150259587-150260412	GM12878	blood:	n/a	n/a
31	ELF1	chr6:150259420-150260359	GM12878	blood:	n/a	chr6:150259820-150259833
32	POLR2A	chr6:150259588-150260513	GM12878	blood:	n/a	n/a
33	MAX	chr6:150259505-150260132	ECC-1	luminal epithelium:	n/a	n/a
34	ELF1	chr6:150259623-150260008	K562	blood:	n/a	chr6:150259820-150259833
35	E2F6	chr6:150259586-150260072	H1-hESC	embryonic stem cell:	n/a	chr6:150259811-150259821
36	MAX	chr6:150259604-150260064	K562	blood:	n/a	n/a
37	RUNX3	chr6:150259503-150260386	GM12878	blood:	n/a	n/a
38	PAX5	chr6:150258995-150260388	GM12878	blood:	n/a	n/a
39	CTCF	chr6:150259540-150259690	GM12871	blood:	n/a	chr6:150259634-150259641
40	EBF1	chr6:150259505-150260281	GM12878	blood:	n/a	chr6:150259713-150259726 chr6:150259715-150259724 chr6:150259715-150259724
41	RELA	chr6:150259633-150260508	GM12891	blood:	n/a	n/a
42	POLR2A	chr6:150259147-150260094	MCF-7	breast:	n/a	n/a
43	CREB1	chr6:150259573-150260414	GM12878	blood:	n/a	chr6:150259736-150259749
44	MAX	chr6:150259597-150260010	H1-hESC	embryonic stem cell:	n/a	n/a
45	MYC	chr6:150259602-150259953	K562	blood:	n/a	n/a
46	EBF1	chr6:150259573-150260421	GM12878	blood:	n/a	chr6:150259713-150259726 chr6:150259715-150259724 chr6:150259715-150259724
47	EBF1	chr6:150259526-150260203	GM12878	blood:	n/a	chr6:150259713-150259726 chr6:150259715-150259724 chr6:150259715-150259724

No.	Distal block	Cell Line	Cell type
1	chr6:150258514..150260378-chr6:150337573..150339969,2	MCF-7	breast:
2	chr6:150255655..150257664-chr6:150259479..150262477,4	K562	blood:
3	chr6:149846576..149848106-chr6:150258402..150260712,2	K562	blood:
4	chr6:150255165..150257260-chr6:150258635..150261924,3	MCF-7	breast:
5	chr6:150257396..150260080-chr6:150261360..150264274,3	MCF-7	breast:
6	chr6:150254783..150257862-chr6:150259479..150262603,4	K562	blood:

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

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150258800-150259800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:150259400-150259800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr6:150259400-150259800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:150259400-150259800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:150259400-150259800	Bivalent Enhancer	Primary B cells from cord blood	blood
6	chr6:150259400-150259800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
7	chr6:150259400-150259800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:150259400-150259800	Enhancers	Liver	Liver
9	chr6:150259400-150259800	Bivalent Enhancer	Colon Smooth Muscle	Colon
10	chr6:150259400-150259800	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
11	chr6:150259400-150259800	Bivalent Enhancer	Fetal Intestine Large	intestine
12	chr6:150259400-150259800	Bivalent Enhancer	Fetal Thymus	thymus
13	chr6:150259400-150259800	Flanking Bivalent TSS/Enh	A549	lung
14	chr6:150259400-150259800	Flanking Bivalent TSS/Enh	NHLF	lung
15	chr6:150259400-150260000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:150259400-150260000	Flanking Active TSS	Right Atrium	heart
17	chr6:150259400-150260000	Flanking Bivalent TSS/Enh	HSMM	muscle
18	chr6:150259400-150260000	Bivalent/Poised TSS	HSMMtube	muscle
19	chr6:150259400-150260200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:150259400-150260200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr6:150259400-150260200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:150259400-150260200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
23	chr6:150259400-150260200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:150259400-150260200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
25	chr6:150259400-150260200	Flanking Bivalent TSS/Enh	Placenta	Placenta
26	chr6:150259400-150260200	Active TSS	Hela-S3	cervix
27	chr6:150259400-150260200	Flanking Active TSS	HMEC	breast
28	chr6:150259400-150260400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr6:150259400-150260400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr6:150259400-150260400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
33	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
34	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
35	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
36	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
37	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
43	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
44	chr6:150259400-150260400	Bivalent Enhancer	Fetal Heart	heart
45	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
46	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
47	chr6:150259400-150260400	Enhancers	Spleen	Spleen
48	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	HepG2	liver
49	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
50	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Osteobl	bone

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