Variant report

Variant	rs73779548
Chromosome Location	chr6:150038232-150038233
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	HCFC1	chr6:150038185-150040121	Hela-S3	cervix:	n/a	n/a
2	TBP	chr6:150038229-150039962	Hela-S3	cervix:	n/a	n/a
3	NFYB	chr6:150037734-150038363	Hela-S3	cervix:	n/a	chr6:150037874-150037889
4	POLR2A	chr6:150036887-150041282	K562	blood:	n/a	n/a
5	MYC	chr6:150037962-150040107	K562	blood:	n/a	chr6:150038907-150038916
6	KAP1	chr6:150037882-150038426	K562	blood:	n/a	n/a
7	POLR2A	chr6:150038070-150040008	PBDE	blood:	n/a	n/a
8	MXI1	chr6:150038120-150040102	IMR90	lung:	n/a	n/a
9	MAZ	chr6:150038132-150039552	HepG2	liver:	n/a	chr6:150038907-150038916
10	CUX1	chr6:150037793-150038758	K562	blood:	n/a	n/a
11	GATA1	chr6:150037034-150040314	K562	blood:	n/a	chr6:150039753-150039760 chr6:150039692-150039709 chr6:150039753-150039762 chr6:150039701-150039711 chr6:150039701-150039710 chr6:150039703-150039713 chr6:150039753-150039760 chr6:150039703-150039710 chr6:150039703-150039710 chr6:150039752-150039762 chr6:150039754-150039771 chr6:150039746-150039767 chr6:150039753-150039760 chr6:150038726-150038734 chr6:150039701-150039710 chr6:150039703-150039710
12	REST	chr6:150038194-150040108	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr6:150038201-150040049	GM12878	blood:	n/a	n/a
14	JUN	chr6:150038200-150038308	H1-hESC	embryonic stem cell:	n/a	n/a
15	EP300	chr6:150038094-150040046	K562	blood:	n/a	n/a
16	IRF1	chr6:150037357-150039961	K562	blood:	n/a	chr6:150037517-150037531 chr6:150037723-150037735 chr6:150037516-150037528 chr6:150037518-150037529 chr6:150037517-150037527 chr6:150037517-150037528 chr6:150037515-150037528 chr6:150038144-150038151 chr6:150037515-150037528 chr6:150037514-150037528 chr6:150037513-150037527 chr6:150037516-150037533 chr6:150037516-150037528
17	POLR2A	chr6:150038200-150039927	Hela-S3	cervix:	n/a	n/a
18	IRF1	chr6:150037270-150039909	K562	blood:	n/a	chr6:150037517-150037531 chr6:150037723-150037735 chr6:150037516-150037528 chr6:150037518-150037529 chr6:150037517-150037527 chr6:150037517-150037528 chr6:150037515-150037528 chr6:150038144-150038151 chr6:150037515-150037528 chr6:150037514-150037528 chr6:150037513-150037527 chr6:150037516-150037533 chr6:150037516-150037528
19	POLR2A	chr6:150038080-150039922	MCF10A-Er-Src	breast:	n/a	n/a
20	KAP1	chr6:150038191-150039908	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:149886717..149888905-chr6:150037583..150040474,2	MCF-7	breast:
2	chr6:149864465..149868641-chr6:150037478..150040253,6	MCF-7	breast:
3	chr6:150037075..150038991-chr6:150181496..150184249,2	K562	blood:
4	chr6:149866797..149869221-chr6:150037385..150040762,4	K562	blood:
5	chr6:149966676..149970226-chr6:150037413..150039390,4	MCF-7	breast:
6	chr6:150037573..150039874-chr7:99755624..99757771,2	MCF-7	breast:
7	chr6:149967309..149971944-chr6:150037502..150040952,6	MCF-7	breast:
8	chr6:150036817..150045008-chr6:150066563..150073628,17	MCF-7	breast:
9	chr6:150037658..150040820-chr6:150066171..150069234,4	MCF-7	breast:
10	chr6:150022443..150028756-chr6:150036776..150040441,8	MCF-7	breast:
11	chr6:149887426..149891060-chr6:150037726..150040656,4	K562	blood:
12	chr6:149967293..149971613-chr6:150037790..150041524,8	K562	blood:
13	chr6:150036146..150038991-chr6:150182749..150185016,3	K562	blood:
14	chr6:150037915..150040218-chr6:150069685..150072655,4	MCF-7	breast:
15	chr6:150037040..150038886-chr6:150185486..150187035,2	K562	blood:

Variant related genes	Relation type
LATS1	TF binding region
ENSG00000120265	Chromatin interaction
ENSG00000131023	Chromatin interaction
ENSG00000186625	Chromatin interaction
ENSG00000268592	Chromatin interaction
ENSG00000146826	Chromatin interaction
ENSG00000131013	Chromatin interaction
ENSG00000120256	Chromatin interaction
ENSG00000120253	Chromatin interaction
ENSG00000055211	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs2343263	1.00[AFR][1000 genomes]
rs41424047	1.00[AFR][1000 genomes]
rs55679019	1.00[AFR][1000 genomes]
rs55734514	1.00[AFR][1000 genomes]
rs55956738	1.00[AFR][1000 genomes]
rs56095145	1.00[AFR][1000 genomes]
rs56196636	0.86[AFR][1000 genomes]
rs56252629	0.86[AFR][1000 genomes]
rs56661428	1.00[AFR][1000 genomes]
rs57679254	1.00[AFR][1000 genomes]
rs58121840	0.86[AFR][1000 genomes]
rs58277211	1.00[AFR][1000 genomes]
rs58319496	0.86[AFR][1000 genomes]
rs58735783	1.00[AFR][1000 genomes]
rs58933940	1.00[AFR][1000 genomes]
rs59528999	1.00[AFR][1000 genomes]
rs59644096	1.00[AFR][1000 genomes]
rs60539437	1.00[AFR][1000 genomes]
rs60596573	1.00[AFR][1000 genomes]
rs60619665	1.00[AFR][1000 genomes]
rs60909651	1.00[AFR][1000 genomes]
rs61370787	0.86[AFR][1000 genomes]
rs61528805	1.00[AFR][1000 genomes]
rs61666000	0.86[AFR][1000 genomes]
rs73779509	1.00[AFR][1000 genomes]
rs73779511	1.00[AFR][1000 genomes]
rs73779512	1.00[AFR][1000 genomes]
rs73779515	1.00[AFR][1000 genomes]
rs73779534	1.00[AFR][1000 genomes]
rs73779537	1.00[AFR][1000 genomes]
rs73779540	1.00[AFR][1000 genomes]
rs73779542	1.00[AFR][1000 genomes]
rs73779543	1.00[AFR][1000 genomes]
rs73779545	1.00[AFR][1000 genomes]
rs73779555	1.00[AFR][1000 genomes]
rs73779556	1.00[AFR][1000 genomes]
rs73779560	1.00[AFR][1000 genomes]
rs73779564	1.00[AFR][1000 genomes]
rs73779567	1.00[AFR][1000 genomes]
rs73779571	1.00[AFR][1000 genomes]
rs73779573	0.86[AFR][1000 genomes]
rs73779577	1.00[AFR][1000 genomes]
rs73781237	1.00[AFR][1000 genomes]
rs73781239	1.00[AFR][1000 genomes]
rs73781243	1.00[AFR][1000 genomes]
rs73781249	0.86[AFR][1000 genomes]
rs73781250	1.00[AFR][1000 genomes]
rs73781251	1.00[AFR][1000 genomes]
rs73781252	1.00[AFR][1000 genomes]
rs73781278	1.00[AFR][1000 genomes]
rs73781279	1.00[AFR][1000 genomes]
rs73781280	1.00[AFR][1000 genomes]
rs73781281	0.86[AFR][1000 genomes]
rs73781282	1.00[AFR][1000 genomes]
rs73781283	1.00[AFR][1000 genomes]
rs73781284	1.00[AFR][1000 genomes]
rs73781287	1.00[AFR][1000 genomes]
rs73781288	1.00[AFR][1000 genomes]
rs73781290	1.00[AFR][1000 genomes]
rs73782106	0.86[AFR][1000 genomes]
rs73782133	1.00[AFR][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	nsv886762	chr6:149866452-150174507	Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv1792620	chr6:149909491-150083621	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv3475167	chr6:150003006-150086225	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv3475168	chr6:150003006-150086225	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv1803291	chr6:150018508-150164190	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150028000-150038400	Weak transcription	Spleen	Spleen
2	chr6:150029600-150038400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:150031800-150038400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:150035400-150040000	Active TSS	GM12878-XiMat	blood
5	chr6:150036600-150038400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:150036800-150040200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:150037000-150038400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:150037000-150038800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr6:150037000-150038800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:150037000-150039800	Active TSS	NHDF-Ad	bronchial
11	chr6:150037200-150038400	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr6:150037200-150038400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:150037200-150038400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr6:150037200-150038400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr6:150037200-150038400	Flanking Active TSS	Osteobl	bone
16	chr6:150037200-150038600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr6:150037200-150038600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:150037200-150038600	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr6:150037200-150038600	Flanking Active TSS	Liver	Liver
20	chr6:150037200-150038800	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr6:150037200-150038800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr6:150037200-150038800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:150037200-150038800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr6:150037200-150039400	Active TSS	H1 Cell Line	embryonic stem cell
25	chr6:150037200-150039600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:150037200-150040000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:150037200-150040200	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr6:150037200-150040200	Active TSS	Colonic Mucosa	Colon
29	chr6:150037400-150038400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr6:150037400-150038400	Flanking Active TSS	Dnd41	blood
31	chr6:150037400-150038600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr6:150037400-150038600	Active TSS	Right Atrium	heart
33	chr6:150037400-150038800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:150037400-150039600	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr6:150037400-150040000	Active TSS	Esophagus	oesophagus
36	chr6:150037400-150040000	Active TSS	Fetal Intestine Large	intestine
37	chr6:150037400-150040000	Active TSS	Psoas Muscle	Psoas
38	chr6:150037400-150040000	Active TSS	Stomach Mucosa	stomach
39	chr6:150037400-150040000	Active TSS	NHLF	lung
40	chr6:150037600-150038400	Flanking Active TSS	Fetal Brain Male	brain
41	chr6:150037600-150039600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr6:150037600-150039600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:150037600-150039600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:150037600-150039600	Active TSS	HSMMtube	muscle
45	chr6:150037600-150039800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:150037600-150039800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:150037600-150039800	Active TSS	Fetal Muscle Leg	muscle
48	chr6:150037600-150039800	Active TSS	Stomach Smooth Muscle	stomach
49	chr6:150037600-150039800	Active TSS	NHEK	skin
50	chr6:150037600-150040000	Active TSS	HUES6 Cell Line	embryonic stem cell

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