Variant report

Variant	rs187033293
Chromosome Location	chr6:132128625-132128626
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	HA-E2F1	chr6:132128481-132129834	MCF-7	breast:	n/a	chr6:132129428-132129438
2	E2F6	chr6:132128567-132129010	A549	lung:	n/a	n/a
3	RCOR1	chr6:132128581-132128769	K562	blood:	n/a	n/a
4	MAZ	chr6:132128209-132129880	IMR90	lung:	n/a	chr6:132128892-132128902
5	RAD21	chr6:132128614-132129047	HepG2	liver:	n/a	n/a
6	HDAC2	chr6:132128448-132129077	HepG2	liver:	n/a	chr6:132128474-132128483
7	RAD21	chr6:132128622-132128958	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr6:132128620-132128830	GM12865	blood:	n/a	n/a
9	POLR2A	chr6:132128457-132129782	H1-hESC	embryonic stem cell:	n/a	n/a
10	SMC3	chr6:132128612-132128968	HepG2	liver:	n/a	n/a
11	RAD21	chr6:132128585-132129075	ECC-1	luminal epithelium:	n/a	n/a
12	CREB1	chr6:132128465-132129850	HepG2	liver:	n/a	n/a
13	MAX	chr6:132128446-132129843	HepG2	liver:	n/a	chr6:132128892-132128902
14	CTBP2	chr6:132128580-132129756	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr6:132128569-132129095	U87	brain:	n/a	n/a
16	RAD21	chr6:132128573-132129084	HepG2	liver:	n/a	n/a
17	MAX	chr6:132128578-132129739	MCF-7	breast:	n/a	chr6:132128892-132128902
18	SIN3A	chr6:132128489-132129041	H1-hESC	embryonic stem cell:	n/a	n/a
19	NFIC	chr6:132128536-132129339	ECC-1	luminal epithelium:	n/a	n/a
20	CTCF	chr6:132128520-132128670	A549	lung:	n/a	n/a
21	RCOR1	chr6:132128608-132129734	HepG2	liver:	n/a	n/a
22	TBP	chr6:132128565-132129795	H1-hESC	embryonic stem cell:	n/a	n/a
23	NFIC	chr6:132128582-132129305	HepG2	liver:	n/a	n/a
24	MXI1	chr6:132128608-132128985	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr6:132128580-132128730	HVMF	connective:	n/a	n/a
26	CTCF	chr6:132128580-132129092	K562	blood:	n/a	n/a
27	CTCF	chr6:132128623-132128941	K562	blood:	n/a	n/a
28	YY1	chr6:132128544-132129673	HepG2	liver:	n/a	chr6:132129467-132129476 chr6:132129545-132129559 chr6:132128844-132128858 chr6:132129431-132129445 chr6:132129461-132129475
29	JUND	chr6:132128511-132128939	H1-hESC	embryonic stem cell:	n/a	n/a
30	RAD21	chr6:132128580-132129014	IMR90	lung:	n/a	n/a
31	ZNF143	chr6:132128510-132128917	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr6:132128503-132129175	ECC-1	luminal epithelium:	n/a	chr6:132128892-132128902
33	TAF1	chr6:132128547-132129570	H1-hESC	embryonic stem cell:	n/a	n/a
34	MXI1	chr6:132128154-132130243	IMR90	lung:	n/a	n/a
35	MAX	chr6:132128567-132129735	ECC-1	luminal epithelium:	n/a	chr6:132128892-132128902
36	MAX	chr6:132128489-132129756	A549	lung:	n/a	chr6:132128892-132128902
37	RAD21	chr6:132128583-132129043	A549	lung:	n/a	n/a
38	MAX	chr6:132128492-132129792	HepG2	liver:	n/a	chr6:132128892-132128902
39	MAX	chr6:132128586-132129099	H1-hESC	embryonic stem cell:	n/a	chr6:132128892-132128902
40	MAX	chr6:132128603-132129121	K562	blood:	n/a	chr6:132128892-132128902
41	MAZ	chr6:132128593-132129538	K562	blood:	n/a	chr6:132128892-132128902
42	POLR2A	chr6:132128623-132129675	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAX	chr6:132128554-132129093	A549	lung:	n/a	chr6:132128892-132128902
44	CTCF	chr6:132128540-132128690	GM12864	blood:	n/a	n/a
45	MAX	chr6:132128580-132129100	H1-hESC	embryonic stem cell:	n/a	chr6:132128892-132128902
46	RAD21	chr6:132128504-132129067	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr6:132128621-132129075	H1-hESC	embryonic stem cell:	n/a	n/a
48	E2F6	chr6:132128393-132129099	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr6:132128624-132129604	Gliobla	brain:	n/a	n/a
50	CTCF	chr6:132128560-132128710	NHDF-neo	bronchial:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:132128149..132132112-chr6:132147030..132152072,5	MCF-7	breast:
2	chr6:132127914..132130474-chr8:77911866..77914153,2	MCF-7	breast:
3	chr6:132127756..132130246-chr6:132148008..132150797,2	MCF-7	breast:
4	chr6:132126867..132133246-chr6:132138030..132146402,10	MCF-7	breast:
5	chr6:132126588..132131688-chr6:132138399..132143000,6	MCF-7	breast:

Variant related genes	Relation type
ENPP1	TF binding region
ENSG00000164751	Chromatin interaction
ENSG00000219532	Chromatin interaction
ENSG00000237115	Chromatin interaction
ENSG00000200895	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv830810	chr6:131960923-132138396	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv886670	chr6:132071193-132193395	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv886671	chr6:132071193-132203432	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
6	nsv5479	chr6:132101897-132136593	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
7	esv3423490	chr6:132127884-132130632	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
8	esv3434209	chr6:132128409-132130407	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132128000-132130400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr6:132128200-132128800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:132128200-132128800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr6:132128200-132128800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:132128200-132128800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:132128200-132128800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:132128200-132128800	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr6:132128200-132128800	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr6:132128200-132128800	Bivalent/Poised TSS	Fetal Brain Male	brain
10	chr6:132128200-132128800	Flanking Active TSS	HSMMtube	muscle
11	chr6:132128200-132128800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
12	chr6:132128200-132128800	Flanking Active TSS	NH-A	brain
13	chr6:132128200-132128800	Flanking Active TSS	NHLF	lung
14	chr6:132128200-132128800	Flanking Active TSS	Osteobl	bone
15	chr6:132128200-132129000	Enhancers	Stomach Mucosa	stomach
16	chr6:132128200-132129400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:132128200-132129400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
18	chr6:132128200-132129600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:132128200-132129600	Active TSS	Brain Cingulate Gyrus	brain
20	chr6:132128200-132129600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr6:132128200-132129800	Active TSS	Brain Angular Gyrus	brain
22	chr6:132128200-132129800	Active TSS	Brain Hippocampus Middle	brain
23	chr6:132128200-132130000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:132128200-132130000	Active TSS	Fetal Kidney	kidney
25	chr6:132128200-132130200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:132128200-132130200	Active TSS	Brain Anterior Caudate	brain
27	chr6:132128200-132130200	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr6:132128200-132130200	Active TSS	Stomach Smooth Muscle	stomach
29	chr6:132128200-132130400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:132128200-132130800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:132128400-132128800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:132128400-132128800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:132128400-132128800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr6:132128400-132128800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
35	chr6:132128400-132128800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:132128400-132128800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:132128400-132128800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr6:132128400-132128800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
39	chr6:132128400-132128800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:132128400-132128800	Flanking Active TSS	Liver	Liver
41	chr6:132128400-132128800	Flanking Active TSS	Colonic Mucosa	Colon
42	chr6:132128400-132128800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr6:132128400-132128800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
44	chr6:132128400-132128800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
45	chr6:132128400-132128800	Flanking Bivalent TSS/Enh	Placenta	Placenta
46	chr6:132128400-132128800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr6:132128400-132128800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr6:132128400-132128800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr6:132128400-132128800	Flanking Bivalent TSS/Enh	HepG2	liver
50	chr6:132128400-132128800	Flanking Active TSS	HSMM	muscle

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