Variant report

Variant	rs542356605
Chromosome Location	chr6:150259597-150259598
allele	A/G
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	ESRRA	chr6:150259409-150261022	GM12878	blood:	n/a	n/a
2	MAX	chr6:150259494-150260357	MCF-7	breast:	n/a	n/a
3	MAX	chr6:150259478-150260211	A549	lung:	n/a	n/a
4	MTA3	chr6:150259483-150260474	GM12878	blood:	n/a	n/a
5	TCF3	chr6:150259487-150260386	GM12878	blood:	n/a	chr6:150260307-150260320
6	PML	chr6:150259565-150260502	GM12878	blood:	n/a	n/a
7	MAX	chr6:150259555-150260120	A549	lung:	n/a	n/a
8	POLR2A	chr6:150259567-150260354	GM12892	blood:	n/a	n/a
9	E2F6	chr6:150259485-150260203	A549	lung:	n/a	chr6:150259811-150259821
10	MAX	chr6:150259547-150260053	K562	blood:	n/a	n/a
11	SUZ12	chr6:150259426-150261085	NT2-D1	testis:	n/a	n/a
12	POLR2A	chr6:150259141-150259614	U87	brain:	n/a	n/a
13	SUZ12	chr6:150259414-150260894	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr6:150258985-150259697	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr6:150259508-150260096	MCF-7	breast:	n/a	n/a
16	MAX	chr6:150259539-150260096	ECC-1	luminal epithelium:	n/a	n/a
17	RUNX3	chr6:150259597-150260527	GM12878	blood:	n/a	n/a
18	RCOR1	chr6:150259587-150260412	GM12878	blood:	n/a	n/a
19	ELF1	chr6:150259420-150260359	GM12878	blood:	n/a	chr6:150259820-150259833
20	POLR2A	chr6:150259588-150260513	GM12878	blood:	n/a	n/a
21	MAX	chr6:150259505-150260132	ECC-1	luminal epithelium:	n/a	n/a
22	E2F6	chr6:150259586-150260072	H1-hESC	embryonic stem cell:	n/a	chr6:150259811-150259821
23	RUNX3	chr6:150259503-150260386	GM12878	blood:	n/a	n/a
24	PAX5	chr6:150258995-150260388	GM12878	blood:	n/a	n/a
25	CTCF	chr6:150259540-150259690	GM12871	blood:	n/a	chr6:150259634-150259641
26	EBF1	chr6:150259505-150260281	GM12878	blood:	n/a	chr6:150259713-150259726 chr6:150259715-150259724 chr6:150259715-150259724
27	POLR2A	chr6:150259147-150260094	MCF-7	breast:	n/a	n/a
28	CREB1	chr6:150259573-150260414	GM12878	blood:	n/a	chr6:150259736-150259749
29	MAX	chr6:150259597-150260010	H1-hESC	embryonic stem cell:	n/a	n/a
30	EBF1	chr6:150259573-150260421	GM12878	blood:	n/a	chr6:150259713-150259726 chr6:150259715-150259724 chr6:150259715-150259724
31	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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150258000-150259600	Bivalent Enhancer	GM12878-XiMat	blood
2	chr6:150258800-150259600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
3	chr6:150258800-150259600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
4	chr6:150258800-150259600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:150258800-150259800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:150259000-150259600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
7	chr6:150259000-150259600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr6:150259200-150259600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr6:150259200-150259600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:150259400-150259600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr6:150259400-150259600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr6:150259400-150259600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr6:150259400-150259600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:150259400-150259600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr6:150259400-150259600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:150259400-150259600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:150259400-150259600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:150259400-150259600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:150259400-150259600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr6:150259400-150259600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
21	chr6:150259400-150259600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
22	chr6:150259400-150259600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:150259400-150259600	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:150259400-150259600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
25	chr6:150259400-150259600	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
26	chr6:150259400-150259600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:150259400-150259600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:150259400-150259600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
29	chr6:150259400-150259600	Bivalent Enhancer	Brain Hippocampus Middle	brain
30	chr6:150259400-150259600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
31	chr6:150259400-150259600	Bivalent Enhancer	Brain Substantia Nigra	brain
32	chr6:150259400-150259600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
33	chr6:150259400-150259600	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr6:150259400-150259600	Bivalent Enhancer	Fetal Stomach	stomach
35	chr6:150259400-150259600	Bivalent Enhancer	Left Ventricle	heart
36	chr6:150259400-150259600	Bivalent Enhancer	Ovary	ovary
37	chr6:150259400-150259600	Enhancers	Pancreas	Pancrea
38	chr6:150259400-150259600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
39	chr6:150259400-150259600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
40	chr6:150259400-150259600	Active TSS	Right Ventricle	heart
41	chr6:150259400-150259600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
42	chr6:150259400-150259600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
43	chr6:150259400-150259600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
44	chr6:150259400-150259600	Bivalent Enhancer	HUVEC	blood vessel
45	chr6:150259400-150259600	Bivalent/Poised TSS	NH-A	brain
46	chr6:150259400-150259600	Bivalent/Poised TSS	NHEK	skin
47	chr6:150259400-150259800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr6:150259400-150259800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:150259400-150259800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:150259400-150259800	Bivalent Enhancer	Primary B cells from cord blood	blood

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