Variant report

Variant	rs147441296
Chromosome Location	chr6:132271453-132271454
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	TAF1	chr6:132271152-132272777	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:132269199-132272798	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF263	chr6:132271036-132272883	HEK293-T-REx	kidney:	n/a	chr6:132271863-132271872
4	EP300	chr6:132270958-132272840	HepG2	liver:	n/a	n/a
5	FOXP2	chr6:132271391-132272694	PFSK-1	brain:	n/a	n/a
6	CTCF	chr6:132271426-132271993	MCF-7	breast:	n/a	chr6:132271779-132271797 chr6:132271782-132271795
7	CTCF	chr6:132271340-132271490	Caco-2	colon:	n/a	n/a
8	POLR2A	chr6:132269231-132272053	U87	brain:	n/a	n/a
9	CHD2	chr6:132267213-132272030	H1-hESC	embryonic stem cell:	n/a	n/a
10	MXI1	chr6:132271025-132272841	HepG2	liver:	n/a	n/a
11	MAX	chr6:132270871-132272894	HepG2	liver:	n/a	n/a
12	POLR2A	chr6:132271078-132272775	Gliobla	brain:	n/a	n/a
13	FOXA1	chr6:132270789-132272907	HepG2	liver:	n/a	n/a
14	CREB1	chr6:132270746-132272036	H1-hESC	embryonic stem cell:	n/a	n/a
15	NFIC	chr6:132270746-132271890	HepG2	liver:	n/a	n/a
16	RAD21	chr6:132270942-132272096	H1-hESC	embryonic stem cell:	n/a	chr6:132271796-132271809 chr6:132271783-132271796 chr6:132271785-132271795
17	MBD4	chr6:132270869-132272152	HepG2	liver:	n/a	n/a
18	CTCF	chr6:132270799-132272128	A549	lung:	n/a	chr6:132271779-132271797 chr6:132271782-132271795
19	RCOR1	chr6:132270977-132272926	HepG2	liver:	n/a	n/a
20	NR2F2	chr6:132269786-132273124	HepG2	liver:	n/a	n/a
21	GATA3	chr6:132269693-132272021	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr6:132271077-132272674	A549	lung:	n/a	n/a
23	POLR2A	chr6:132270867-132272680	H1-hESC	embryonic stem cell:	n/a	n/a
24	SP4	chr6:132270926-132271966	H1-hESC	embryonic stem cell:	n/a	chr6:132271849-132271865 chr6:132271783-132271799
25	POLR2A	chr6:132267033-132272723	HepG2	liver:	n/a	n/a
26	PBX3	chr6:132270683-132272961	SK-N-SH	brain:	n/a	n/a
27	HEY1	chr6:132268004-132272823	HepG2	liver:	n/a	n/a
28	CHD2	chr6:132270879-132272766	HepG2	liver:	n/a	n/a
29	TBP	chr6:132270905-132272040	HepG2	liver:	n/a	n/a
30	POLR2A	chr6:132266659-132272679	HepG2	liver:	n/a	n/a
31	POLR2A	chr6:132269776-132272855	PFSK-1	brain:	n/a	n/a
32	JUND	chr6:132270804-132272744	HepG2	liver:	n/a	chr6:132272521-132272530 chr6:132272566-132272575
33	TAF7	chr6:132267350-132272864	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr6:132270913-132271460	MCF-7	breast:	n/a	n/a
35	TEAD4	chr6:132271009-132272998	SK-N-SH	brain:	n/a	n/a
36	SP1	chr6:132270902-132271510	A549	lung:	n/a	n/a
37	MXI1	chr6:132271051-132271896	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr6:132269397-132272146	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr6:132267640-132272713	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr6:132271453-132271828	MCF-7	breast:	n/a	n/a
41	JUND	chr6:132267546-132272205	SK-N-SH	brain:	n/a	n/a
42	HNF4A	chr6:132271041-132272735	HepG2	liver:	n/a	chr6:132272657-132272672 chr6:132271715-132271728 chr6:132271715-132271728
43	MAX	chr6:132269563-132272788	HepG2	liver:	n/a	n/a
44	MAX	chr6:132270912-132272902	SK-N-SH	brain:	n/a	n/a
45	CTBP2	chr6:132271088-132272822	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr6:132267577-132272738	HepG2	liver:	n/a	n/a
47	MYC	chr6:132271407-132271748	HUVEC	blood vessel:	n/a	n/a
48	HEY1	chr6:132267607-132272711	HepG2	liver:	n/a	n/a
49	CREB1	chr6:132270894-132272928	HepG2	liver:	n/a	n/a
50	MAX	chr6:132270954-132272245	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:132269655-132282174..6:132454814-132459405	GM12878	blood:
2	6:132269655-132282174..6:132434977-132438109	Hela-S3	cervix:
3	chr6:132270712..132271805-chr6:132538854..132539933,3	MCF-7	breast:
4	6:132269655-132282174..6:132402790-132406656	H1-hESC	embryonic stem cell:	embryo
5	6:132269655-132282174..6:132480387-132483283	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000227220	TF binding region
ENSG00000265669	Chromatin interaction
ENSG00000236166	Chromatin interaction
ENSG00000228495	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3398326	chr6:132269959-132274257	Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a
3	esv3405704	chr6:132270884-132273432	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	esv3356801	chr6:132271409-132273607	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132268200-132271800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
2	chr6:132268400-132271800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:132269000-132271800	Transcr. at gene 5' and 3'	NH-A	brain
4	chr6:132269400-132271600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
5	chr6:132269400-132271600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:132269400-132271800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:132269400-132271800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
8	chr6:132269400-132271800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:132269400-132271800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
10	chr6:132269400-132272000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:132269400-132272000	Enhancers	Hela-S3	cervix
12	chr6:132269400-132273000	Active TSS	Ovary	ovary
13	chr6:132269600-132271600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
14	chr6:132269600-132271600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
15	chr6:132269800-132271600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:132269800-132271600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:132269800-132271600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
18	chr6:132269800-132271800	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
19	chr6:132269800-132271800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
20	chr6:132269800-132271800	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr6:132269800-132271800	Flanking Active TSS	Fetal Heart	heart
22	chr6:132269800-132271800	Transcr. at gene 5' and 3'	HepG2	liver
23	chr6:132269800-132271800	Transcr. at gene 5' and 3'	NHLF	lung
24	chr6:132269800-132272800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr6:132269800-132272800	Active TSS	Psoas Muscle	Psoas
26	chr6:132270000-132271600	Transcr. at gene 5' and 3'	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:132270000-132271600	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:132270000-132271600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:132270000-132271800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:132270000-132272600	Active TSS	Brain Anterior Caudate	brain
31	chr6:132270000-132273000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:132270200-132271800	Transcr. at gene 5' and 3'	Osteobl	bone
33	chr6:132270200-132273200	Active TSS	Right Atrium	heart
34	chr6:132270400-132271600	Transcr. at gene 5' and 3'	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:132270400-132271600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
36	chr6:132270400-132271600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
37	chr6:132270400-132272400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:132270400-132272400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr6:132270400-132272600	Bivalent/Poised TSS	Thymus	Thymus
40	chr6:132270400-132272800	Active TSS	Colon Smooth Muscle	Colon
41	chr6:132270600-132271600	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr6:132270600-132271800	Flanking Active TSS	HMEC	breast
43	chr6:132270600-132272800	Active TSS	Stomach Smooth Muscle	stomach
44	chr6:132270600-132272800	Active TSS	HSMM	muscle
45	chr6:132270600-132272800	Active TSS	HSMMtube	muscle
46	chr6:132270600-132272800	Active TSS	NHDF-Ad	bronchial
47	chr6:132270600-132273000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:132270600-132273000	Active TSS	Fetal Kidney	kidney
49	chr6:132270600-132273000	Active TSS	Rectal Smooth Muscle	rectum
50	chr6:132270800-132272800	Active TSS	Breast Myoepithelial Primary Cells	Breast

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