Variant report

Variant	rs374276549
Chromosome Location	chr6:132271122-132271123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:224)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:224 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:132269199-132272798	H1-hESC	embryonic stem cell:	n/a	n/a
2	SMC3	chr6:132270722-132271281	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr6:132271059-132271260	Pancreas_OC	pancreas:	n/a	n/a
4	ZNF263	chr6:132271036-132272883	HEK293-T-REx	kidney:	n/a	chr6:132271863-132271872
5	CTCF	chr6:132271060-132271210	RPTEC	kidney:	n/a	n/a
6	EP300	chr6:132270958-132272840	HepG2	liver:	n/a	n/a
7	STAT3	chr6:132270885-132271254	MCF10A-Er-Src	breast:	n/a	chr6:132270937-132270945
8	CTCF	chr6:132271037-132271358	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr6:132270735-132271278	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr6:132269231-132272053	U87	brain:	n/a	n/a
11	CHD2	chr6:132267213-132272030	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr6:132270949-132271369	A549	lung:	n/a	n/a
13	CTCF	chr6:132271044-132271277	Gliobla	brain:	n/a	n/a
14	MXI1	chr6:132271025-132272841	HepG2	liver:	n/a	n/a
15	MAX	chr6:132270871-132272894	HepG2	liver:	n/a	n/a
16	CTCF	chr6:132271064-132271258	Spleen_OC	spleen:	n/a	n/a
17	SIN3AK20	chr6:132270914-132271366	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr6:132271078-132272775	Gliobla	brain:	n/a	n/a
19	FOXA1	chr6:132270789-132272907	HepG2	liver:	n/a	n/a
20	CTCF	chr6:132271060-132271210	HPAF	blood vessel:	n/a	n/a
21	CTCF	chr6:132271100-132271250	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr6:132271080-132271230	AG10803	skin:	n/a	n/a
23	CREB1	chr6:132270746-132272036	H1-hESC	embryonic stem cell:	n/a	n/a
24	NFIC	chr6:132270746-132271890	HepG2	liver:	n/a	n/a
25	RAD21	chr6:132270942-132272096	H1-hESC	embryonic stem cell:	n/a	chr6:132271796-132271809 chr6:132271783-132271796 chr6:132271785-132271795
26	MBD4	chr6:132270869-132272152	HepG2	liver:	n/a	n/a
27	CTCF	chr6:132271061-132271292	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr6:132270799-132272128	A549	lung:	n/a	chr6:132271779-132271797 chr6:132271782-132271795
29	CTCF	chr6:132271074-132271242	Fibrobl	skin:	n/a	n/a
30	RCOR1	chr6:132270977-132272926	HepG2	liver:	n/a	n/a
31	REST	chr6:132271069-132271408	SK-N-SH	brain:	n/a	n/a
32	NR2F2	chr6:132269786-132273124	HepG2	liver:	n/a	n/a
33	CTCF	chr6:132271061-132271278	MCF-7	breast:	n/a	n/a
34	CTCF	chr6:132271060-132271210	HA-sp	spinal cord:	n/a	n/a
35	GATA3	chr6:132269693-132272021	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr6:132271077-132272674	A549	lung:	n/a	n/a
37	POLR2A	chr6:132270867-132272680	H1-hESC	embryonic stem cell:	n/a	n/a
38	FOS	chr6:132270801-132271328	MCF10A-Er-Src	breast:	n/a	n/a
39	SP4	chr6:132270926-132271966	H1-hESC	embryonic stem cell:	n/a	chr6:132271849-132271865 chr6:132271783-132271799
40	POLR2A	chr6:132267033-132272723	HepG2	liver:	n/a	n/a
41	PBX3	chr6:132270683-132272961	SK-N-SH	brain:	n/a	n/a
42	HEY1	chr6:132268004-132272823	HepG2	liver:	n/a	n/a
43	CTCF	chr6:132271080-132271230	HCT-116	colon:	n/a	n/a
44	CTCF	chr6:132271060-132271210	HFF-Myc	foreskin:	n/a	n/a
45	CHD2	chr6:132270879-132272766	HepG2	liver:	n/a	n/a
46	CTCF	chr6:132271071-132271232	Kidney_OC	kidney:	n/a	n/a
47	TBP	chr6:132270905-132272040	HepG2	liver:	n/a	n/a
48	POLR2A	chr6:132266659-132272679	HepG2	liver:	n/a	n/a
49	POLR2A	chr6:132269776-132272855	PFSK-1	brain:	n/a	n/a
50	CTCF	chr6:132271060-132271210	BE2_C	brain:	n/a	n/a

No data

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

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

No data

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

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:105 , 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	chr6:132269400-132271200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:132269400-132271400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:132269400-132271400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
7	chr6:132269400-132271400	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
8	chr6:132269400-132271400	Transcr. at gene 5' and 3'	A549	lung
9	chr6:132269400-132271600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
10	chr6:132269400-132271600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:132269400-132271800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:132269400-132271800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
13	chr6:132269400-132271800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:132269400-132271800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
15	chr6:132269400-132272000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:132269400-132272000	Enhancers	Hela-S3	cervix
17	chr6:132269400-132273000	Active TSS	Ovary	ovary
18	chr6:132269600-132271200	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
19	chr6:132269600-132271400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr6:132269600-132271600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
21	chr6:132269600-132271600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
22	chr6:132269800-132271200	Active TSS	Brain Angular Gyrus	brain
23	chr6:132269800-132271200	Active TSS	Pancreas	Pancrea
24	chr6:132269800-132271400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:132269800-132271400	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
26	chr6:132269800-132271600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:132269800-132271600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:132269800-132271600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
29	chr6:132269800-132271800	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
30	chr6:132269800-132271800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
31	chr6:132269800-132271800	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr6:132269800-132271800	Flanking Active TSS	Fetal Heart	heart
33	chr6:132269800-132271800	Transcr. at gene 5' and 3'	HepG2	liver
34	chr6:132269800-132271800	Transcr. at gene 5' and 3'	NHLF	lung
35	chr6:132269800-132272800	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr6:132269800-132272800	Active TSS	Psoas Muscle	Psoas
37	chr6:132270000-132271200	Active TSS	Colonic Mucosa	Colon
38	chr6:132270000-132271200	Transcr. at gene 5' and 3'	NHEK	skin
39	chr6:132270000-132271400	Active TSS	Left Ventricle	heart
40	chr6:132270000-132271400	Active TSS	Lung	lung
41	chr6:132270000-132271400	Active TSS	Right Ventricle	heart
42	chr6:132270000-132271600	Transcr. at gene 5' and 3'	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:132270000-132271600	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:132270000-132271600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:132270000-132271800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:132270000-132272600	Active TSS	Brain Anterior Caudate	brain
47	chr6:132270000-132273000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:132270200-132271800	Transcr. at gene 5' and 3'	Osteobl	bone
49	chr6:132270200-132273200	Active TSS	Right Atrium	heart
50	chr6:132270400-132271200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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