Variant report

Variant	rs73768108
Chromosome Location	chr6:118228102-118228103
allele	C/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	CTCF	chr6:118228000-118228150	HFF	foreskin:	n/a	n/a
2	REST	chr6:118227875-118228413	K562	blood:	n/a	chr6:118228087-118228100 chr6:118228087-118228096 chr6:118228100-118228114
3	REST	chr6:118227755-118228545	HL-60	blood:	n/a	chr6:118228087-118228100 chr6:118228087-118228096 chr6:118228100-118228114
4	CTCF	chr6:118228000-118228150	GM12870	blood:	n/a	n/a
5	REST	chr6:118227817-118228318	HepG2	liver:	n/a	chr6:118228087-118228100 chr6:118228087-118228096 chr6:118228100-118228114
6	ZBTB7A	chr6:118228016-118228550	ECC-1	luminal epithelium:	n/a	chr6:118228288-118228297
7	MXI1	chr6:118228017-118228502	HepG2	liver:	n/a	n/a
8	EP300	chr6:118228086-118228240	HepG2	liver:	n/a	chr6:118228088-118228104
9	YY1	chr6:118227822-118228247	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr6:118228017-118228433	H1-hESC	embryonic stem cell:	n/a	chr6:118228288-118228304
11	YY1	chr6:118227872-118228326	H1-hESC	embryonic stem cell:	n/a	chr6:118228285-118228299
12	CTCF	chr6:118228085-118228331	K562	blood:	n/a	chr6:118228288-118228304
13	HDAC2	chr6:118227929-118228355	H1-hESC	embryonic stem cell:	n/a	chr6:118228314-118228333
14	REST	chr6:118227787-118228489	U87	brain:	n/a	chr6:118228087-118228100 chr6:118228087-118228096 chr6:118228100-118228114
15	REST	chr6:118227940-118228329	SK-N-SH	brain:	n/a	chr6:118228087-118228100 chr6:118228087-118228096 chr6:118228100-118228114
16	CTCF	chr6:118228060-118228210	AG04450	lung:	n/a	n/a
17	CREB1	chr6:118227949-118228483	H1-hESC	embryonic stem cell:	n/a	n/a
18	REST	chr6:118227780-118228367	H1-hESC	embryonic stem cell:	n/a	chr6:118228087-118228100 chr6:118228087-118228096 chr6:118228100-118228114
19	MAX	chr6:118228068-118229176	HepG2	liver:	n/a	chr6:118228320-118228330
20	CTCF	chr6:118228080-118228230	HMEC	breast:	n/a	n/a
21	CREB1	chr6:118227880-118228494	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr6:118228060-118228210	GM12864	blood:	n/a	n/a
23	REST	chr6:118227946-118228232	SK-N-SH	brain:	n/a	chr6:118228087-118228100 chr6:118228087-118228096 chr6:118228100-118228114
24	ATF2	chr6:118228003-118228332	H1-hESC	embryonic stem cell:	n/a	n/a
25	KAP1	chr6:118227562-118228286	HEK293	kidney:	n/a	n/a
26	CEBPB	chr6:118228044-118228291	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAZ	chr6:118227924-118228570	HepG2	liver:	n/a	chr6:118228320-118228330
28	REST	chr6:118227944-118228357	PANC-1	pancreas:	n/a	chr6:118228087-118228100 chr6:118228087-118228096 chr6:118228100-118228114
29	HDAC2	chr6:118228029-118228290	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr6:118228038-118228451	H1-hESC	embryonic stem cell:	n/a	chr6:118228288-118228304
31	REST	chr6:118227763-118228434	GM12878	blood:	n/a	chr6:118228087-118228100 chr6:118228087-118228096 chr6:118228100-118228114
32	REST	chr6:118227924-118228220	HCT-116	colon:	n/a	chr6:118228087-118228100 chr6:118228087-118228096 chr6:118228100-118228114
33	CTCF	chr6:118228060-118228210	A549	lung:	n/a	n/a
34	CTCF	chr6:118228091-118228577	K562	blood:	n/a	chr6:118228288-118228304
35	EP300	chr6:118227949-118228601	SK-N-SH	brain:	n/a	chr6:118228560-118228576 chr6:118228088-118228104
36	REST	chr6:118227949-118228331	GM12878	blood:	n/a	chr6:118228087-118228100 chr6:118228087-118228096 chr6:118228100-118228114
37	REST	chr6:118227948-118228234	GM12878	blood:	n/a	chr6:118228087-118228100 chr6:118228087-118228096 chr6:118228100-118228114
38	CTCF	chr6:118228040-118228190	HFF-Myc	foreskin:	n/a	n/a
39	REST	chr6:118227583-118228435	PFSK-1	brain:	n/a	chr6:118228087-118228100 chr6:118227707-118227715 chr6:118228087-118228096 chr6:118228100-118228114
40	RAD21	chr6:118228010-118228470	H1-hESC	embryonic stem cell:	n/a	chr6:118228287-118228299 chr6:118228096-118228109
41	CTCF	chr6:118228080-118228230	NHDF-neo	bronchial:	n/a	n/a
42	ZBTB7A	chr6:118228016-118228506	ECC-1	luminal epithelium:	n/a	chr6:118228288-118228297
43	GTF2F1	chr6:118227896-118228460	H1-hESC	embryonic stem cell:	n/a	n/a
44	REST	chr6:118227931-118228398	K562	blood:	n/a	chr6:118228087-118228100 chr6:118228087-118228096 chr6:118228100-118228114
45	TCF12	chr6:118227874-118228284	H1-hESC	embryonic stem cell:	n/a	n/a
46	TEAD4	chr6:118227881-118228326	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr6:118227742-118228634	SK-N-SH	brain:	n/a	chr6:118228288-118228304
48	REST	chr6:118227712-118229252	ECC-1	luminal epithelium:	n/a	chr6:118228087-118228100 chr6:118228087-118228096 chr6:118228100-118228114
49	EP300	chr6:118227918-118228650	H1-hESC	embryonic stem cell:	n/a	chr6:118228560-118228576 chr6:118228088-118228104
50	REST	chr6:118227770-118228623	HepG2	liver:	n/a	chr6:118228087-118228100 chr6:118228087-118228096 chr6:118228100-118228114

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:118228060-118228110	PANC-1	pancreas:	n/a
2	chr6:118228060-118228110	HIPEpiC	eye:	n/a
3	chr6:118228078-118228128	H1-hESC	embryonic stem cell:	embryo
4	chr6:118228078-118228128	NHBE	bronchial:	n/a
5	chr6:118228060-118228110	HPAEpiC	pulmonary alveolar:	n/a
6	chr6:118228060-118228110	PFSK-1	brain:	n/a
7	chr6:118228078-118228128	SAEC	small airway:	n/a
8	chr6:118228060-118228110	GM12891	blood:	n/a
9	chr6:118228078-118228128	Hela-S3	cervix:	n/a
10	chr6:118228060-118228110	LNCaP	prostate:	n/a
11	chr6:118228078-118228128	MCF-7	breast:	n/a
12	chr6:118228060-118228110	MCF-7	breast:	n/a
13	chr6:118228060-118228110	HL-60	blood:	n/a
14	chr6:118228060-118228110	NHDF-neo	bronchial:	n/a
15	chr6:118228078-118228128	HAEpiC	amniotic membrane:	n/a
16	chr6:118228060-118228110	A549	lung:	n/a
17	chr6:118228078-118228128	HRPEpiC	eye:	n/a
18	chr6:118228060-118228110	K562	blood:	n/a
19	chr6:118228078-118228128	NB4	blood:	n/a
20	chr6:118228060-118228110	HCM	heart:	n/a
21	chr6:118228078-118228128	HCT-116	colon:	n/a
22	chr6:118228060-118228110	RPTEC	kidney:	n/a
23	chr6:118228060-118228110	HepG2	liver:	n/a
24	chr6:118228060-118228110	CMK	blood:	n/a
25	chr6:118228078-118228128	HMEC	breast:	n/a
26	chr6:118228078-118228128	Hepatocyte	liver:	n/a
27	chr6:118228060-118228110	SKMC	muscle:	n/a
28	chr6:118228060-118228110	BE2_C	brain:	n/a
29	chr6:118228078-118228128	PANC-1	pancreas:	n/a
30	chr6:118228060-118228110	SK-N-SH_RA	brain:	n/a
31	chr6:118228060-118228110	GM06990	blood:	n/a
32	chr6:118228078-118228128	AG09309	skin:	n/a
33	chr6:118228060-118228110	HRE	kidney:	n/a
34	chr6:118228060-118228110	HCPEpiC	choroid plexus:	n/a
35	chr6:118228060-118228110	HRCEpiC	kidney:	n/a
36	chr6:118228078-118228128	SKMC	muscle:	n/a
37	chr6:118228060-118228110	NT2-D1	testis:	n/a
38	chr6:118228078-118228128	U87	brain:	n/a
39	chr6:118228078-118228128	SK-N-MC	brain:	n/a
40	chr6:118228078-118228128	GM19239	blood:	n/a
41	chr6:118228078-118228128	HEEpiC	esophagus:	n/a
42	chr6:118228060-118228110	AG10803	skin:	n/a
43	chr6:118228060-118228110	SK-N-MC	brain:	n/a
44	chr6:118228060-118228110	HUVEC	blood vessel:	n/a
45	chr6:118228060-118228110	GM12878	blood:	n/a
46	chr6:118228078-118228128	HPAEpiC	pulmonary alveolar:	n/a
47	chr6:118228078-118228128	MCF10A-Er-Src	breast:	n/a
48	chr6:118228078-118228128	HL-60	blood:	n/a
49	chr6:118228060-118228110	GM12892	blood:	n/a
50	chr6:118228078-118228128	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:118161401..118162100-chr6:118227994..118228639,2	MCF-7	breast:

Variant related genes	Relation type
SLC35F1	TF binding region
SLC35F1	CpG island

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv3414441	chr6:118227509-118229957	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118227400-118228200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:118227400-118230200	Active TSS	Brain Angular Gyrus	brain
3	chr6:118227400-118230400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr6:118227600-118228200	Active TSS	Fetal Brain Male	brain
5	chr6:118227600-118228200	Bivalent Enhancer	Fetal Heart	heart
6	chr6:118227600-118228800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:118227600-118228800	Active TSS	Stomach Smooth Muscle	stomach
8	chr6:118227600-118229000	Bivalent Enhancer	Liver	Liver
9	chr6:118227600-118229000	Active TSS	Brain Germinal Matrix	brain
10	chr6:118227600-118229400	Active TSS	Fetal Brain Female	brain
11	chr6:118227600-118229600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
12	chr6:118227600-118230000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr6:118227600-118230000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr6:118227800-118228200	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr6:118227800-118228200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:118227800-118228200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:118227800-118228200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:118227800-118228200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:118227800-118228200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
20	chr6:118227800-118228200	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr6:118227800-118228200	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr6:118227800-118228200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
23	chr6:118227800-118228200	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
24	chr6:118227800-118228200	Flanking Bivalent TSS/Enh	HepG2	liver
25	chr6:118227800-118228600	Active TSS	Psoas Muscle	Psoas
26	chr6:118227800-118228600	Bivalent/Poised TSS	Right Ventricle	heart
27	chr6:118227800-118228600	Bivalent/Poised TSS	HUVEC	blood vessel
28	chr6:118227800-118228800	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr6:118227800-118228800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:118227800-118228800	Active TSS	Right Atrium	heart
31	chr6:118227800-118229000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:118227800-118229200	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr6:118227800-118229200	Active TSS	Left Ventricle	heart
34	chr6:118227800-118229400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
35	chr6:118227800-118229400	Active TSS	Rectal Smooth Muscle	rectum
36	chr6:118227800-118229600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:118227800-118229600	Bivalent/Poised TSS	A549	lung
38	chr6:118227800-118229800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:118227800-118229800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:118227800-118230000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:118227800-118230200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:118227800-118230400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:118227800-118230400	Active TSS	Brain Cingulate Gyrus	brain
44	chr6:118227800-118230400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
45	chr6:118228000-118228200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:118228000-118228200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:118228000-118228200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:118228000-118228200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
49	chr6:118228000-118228200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
50	chr6:118228000-118228200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood

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