Variant report

Variant	rs147119327
Chromosome Location	chr6:132128355-132128356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr6:132128209-132129880	IMR90	lung:	n/a	chr6:132128892-132128902
2	MXI1	chr6:132128154-132130243	IMR90	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:132128337-132128387	HL-60	blood:	n/a
2	chr6:132128337-132128387	HRCEpiC	kidney:	n/a
3	chr6:132128337-132128387	ECC-1	luminal epithelium:	n/a
4	chr6:132128337-132128387	SK-N-SH_RA	brain:	n/a
5	chr6:132128337-132128387	GM19239	blood:	n/a
6	chr6:132128337-132128387	HRE	kidney:	n/a
7	chr6:132128337-132128387	HRPEpiC	eye:	n/a
8	chr6:132128337-132128387	AG10803	skin:	n/a
9	chr6:132128337-132128387	IMR90	lung:	fetal
10	chr6:132128337-132128387	GM12892	blood:	n/a
11	chr6:132128337-132128387	U87	brain:	n/a
12	chr6:132128337-132128387	GM06990	blood:	n/a
13	chr6:132128337-132128387	SK-N-SH	brain:	n/a
14	chr6:132128337-132128387	NHBE	bronchial:	n/a
15	chr6:132128337-132128387	SAEC	small airway:	n/a
16	chr6:132128337-132128387	HepG2	liver:	n/a
17	chr6:132128337-132128387	HAEpiC	amniotic membrane:	n/a
18	chr6:132128337-132128387	SK-N-MC	brain:	n/a
19	chr6:132128337-132128387	A549	lung:	n/a
20	chr6:132128337-132128387	PrEC	prostate:	n/a
21	chr6:132128337-132128387	GM12891	blood:	n/a
22	chr6:132128337-132128387	HCPEpiC	choroid plexus:	n/a
23	chr6:132128337-132128387	Hela-S3	cervix:	n/a
24	chr6:132128337-132128387	HCT-116	colon:	n/a
25	chr6:132128337-132128387	HPAEpiC	pulmonary alveolar:	n/a
26	chr6:132128337-132128387	H1-hESC	embryonic stem cell:	embryo
27	chr6:132128337-132128387	AG04450	lung:	fetal
28	chr6:132128337-132128387	HCM	heart:	n/a
29	chr6:132128337-132128387	HEK293	kidney:	embryo
30	chr6:132128337-132128387	AG04449	skin:	fetal
31	chr6:132128337-132128387	AG09309	skin:	n/a
32	chr6:132128337-132128387	NHDF-neo	bronchial:	n/a
33	chr6:132128337-132128387	BE2_C	brain:	n/a
34	chr6:132128337-132128387	HEEpiC	esophagus:	n/a
35	chr6:132128337-132128387	HIPEpiC	eye:	n/a
36	chr6:132128337-132128387	NH-A	brain:	n/a
37	chr6:132128337-132128387	AoSMC	blood vessel:	n/a
38	chr6:132128337-132128387	SKMC	muscle:	n/a
39	chr6:132128337-132128387	MCF-7	breast:	n/a
40	chr6:132128337-132128387	HUVEC	blood vessel:	n/a
41	chr6:132128337-132128387	LNCaP	prostate:	n/a
42	chr6:132128337-132128387	MCF10A-Er-Src	breast:	n/a
43	chr6:132128337-132128387	GM12878	blood:	n/a
44	chr6:132128337-132128387	ovcar-3	ovarian:	n/a
45	chr6:132128337-132128387	NB4	blood:	n/a
46	chr6:132128337-132128387	PANC-1	pancreas:	n/a
47	chr6:132128337-132128387	ProgFib	skin:	n/a
48	chr6:132128337-132128387	HCF	heart:	n/a
49	chr6:132128337-132128387	NT2-D1	testis:	n/a
50	chr6:132128337-132128387	Jurkat	blood:	n/a

(count:5 , 50 per page) page: 1

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:

No data

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

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132124800-132128400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr6:132124800-132128400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:132124800-132128400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:132126200-132128400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr6:132126600-132128400	Weak transcription	Ovary	ovary
6	chr6:132128000-132128400	Enhancers	Liver	Liver
7	chr6:132128000-132128600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
8	chr6:132128000-132130400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr6:132128200-132128400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr6:132128200-132128400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr6:132128200-132128400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:132128200-132128400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr6:132128200-132128400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:132128200-132128400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
15	chr6:132128200-132128400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
16	chr6:132128200-132128400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:132128200-132128400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:132128200-132128400	Enhancers	Primary B cells from peripheral blood	blood
19	chr6:132128200-132128400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:132128200-132128400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
21	chr6:132128200-132128400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:132128200-132128400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr6:132128200-132128400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr6:132128200-132128400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr6:132128200-132128400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:132128200-132128400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr6:132128200-132128400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:132128200-132128400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:132128200-132128400	Enhancers	Brain Substantia Nigra	brain
30	chr6:132128200-132128400	Active TSS	Colonic Mucosa	Colon
31	chr6:132128200-132128400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr6:132128200-132128400	Enhancers	Fetal Intestine Large	intestine
33	chr6:132128200-132128400	Enhancers	Fetal Intestine Small	intestine
34	chr6:132128200-132128400	Bivalent Enhancer	Fetal Lung	lung
35	chr6:132128200-132128400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
36	chr6:132128200-132128400	Enhancers	Fetal Stomach	stomach
37	chr6:132128200-132128400	Enhancers	Placenta Amnion	Placenta Amnion
38	chr6:132128200-132128400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
39	chr6:132128200-132128400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr6:132128200-132128400	Flanking Active TSS	HepG2	liver
41	chr6:132128200-132128400	Enhancers	HSMM	muscle
42	chr6:132128200-132128400	Flanking Active TSS	NHDF-Ad	bronchial
43	chr6:132128200-132128600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:132128200-132128600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
45	chr6:132128200-132128600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
46	chr6:132128200-132128600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:132128200-132128600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:132128200-132128600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
49	chr6:132128200-132128600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
50	chr6:132128200-132128600	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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