Variant report

Variant	rs531574446
Chromosome Location	chr6:33419144-33419145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33419063-33419441	PFSK-1	brain:	n/a	n/a
2	MAFF	chr6:33418873-33419157	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:33419048-33419567	SK-N-MC	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33419140-33419190	SK-N-SH	brain:	n/a
2	chr6:33419140-33419190	Hepatocyte	liver:	n/a
3	chr6:33419140-33419190	NT2-D1	testis:	n/a
4	chr6:33419140-33419190	NHBE	bronchial:	n/a
5	chr6:33419140-33419190	GM12892	blood:	n/a
6	chr6:33419140-33419190	GM06990	blood:	n/a
7	chr6:33419140-33419190	RPTEC	kidney:	n/a
8	chr6:33419140-33419190	HCPEpiC	choroid plexus:	n/a
9	chr6:33419140-33419190	SK-N-SH_RA	brain:	n/a
10	chr6:33419140-33419190	A549	lung:	n/a
11	chr6:33419140-33419190	HRPEpiC	eye:	n/a
12	chr6:33419140-33419190	SK-N-MC	brain:	n/a
13	chr6:33419140-33419190	HCT-116	colon:	n/a
14	chr6:33419140-33419190	SAEC	small airway:	n/a
15	chr6:33419140-33419190	ECC-1	luminal epithelium:	n/a
16	chr6:33419140-33419190	U87	brain:	n/a
17	chr6:33419140-33419190	HRCEpiC	kidney:	n/a
18	chr6:33419140-33419190	HIPEpiC	eye:	n/a
19	chr6:33419140-33419190	GM19239	blood:	n/a
20	chr6:33419140-33419190	NHDF-neo	bronchial:	n/a
21	chr6:33419140-33419190	Caco-2	colon:	n/a
22	chr6:33419140-33419190	HEEpiC	esophagus:	n/a
23	chr6:33419140-33419190	AoSMC	blood vessel:	n/a
24	chr6:33419140-33419190	AG09309	skin:	n/a
25	chr6:33419140-33419190	NB4	blood:	n/a
26	chr6:33419140-33419190	AG04449	skin:	fetal
27	chr6:33419140-33419190	HUVEC	blood vessel:	n/a
28	chr6:33419140-33419190	HRE	kidney:	n/a
29	chr6:33419140-33419190	GM12878	blood:	n/a
30	chr6:33419140-33419190	BJ	skin:	n/a
31	chr6:33419140-33419190	GM12891	blood:	n/a
32	chr6:33419140-33419190	AG09319	gingival:	n/a
33	chr6:33419140-33419190	HepG2	liver:	n/a
34	chr6:33419140-33419190	Jurkat	blood:	n/a
35	chr6:33419140-33419190	LNCaP	prostate:	n/a
36	chr6:33419140-33419190	MCF10A-Er-Src	breast:	n/a
37	chr6:33419140-33419190	HCM	heart:	n/a
38	chr6:33419140-33419190	IMR90	lung:	fetal
39	chr6:33419140-33419190	AG10803	skin:	n/a
40	chr6:33419140-33419190	PFSK-1	brain:	n/a
41	chr6:33419140-33419190	PANC-1	pancreas:	n/a
42	chr6:33419140-33419190	ProgFib	skin:	n/a
43	chr6:33419140-33419190	PrEC	prostate:	n/a
44	chr6:33419140-33419190	HPAEpiC	pulmonary alveolar:	n/a
45	chr6:33419140-33419190	HNPCEpiC	eye:	n/a
46	chr6:33419140-33419190	SKMC	muscle:	n/a
47	chr6:33419140-33419190	HMEC	breast:	n/a
48	chr6:33419140-33419190	H1-hESC	embryonic stem cell:	embryo
49	chr6:33419140-33419190	BE2_C	brain:	n/a
50	chr6:33419140-33419190	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33392449..33400629-chr6:33419013..33424035,12	MCF-7	breast:

No data

Variant related genes	Relation type
ZBTB9	TF binding region
ZBTB9	CpG island
ENSG00000197283	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv602832	chr6:33382241-33520221	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv437503	chr6:33408542-33421577	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv3341480	chr6:33418074-33422572	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv3507170	chr6:33418124-33423322	Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv3507171	chr6:33418124-33423322	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33399400-33421200	Weak transcription	HMEC	breast
2	chr6:33399400-33421600	Weak transcription	Stomach Mucosa	stomach
3	chr6:33399600-33421400	Weak transcription	HUVEC	blood vessel
4	chr6:33399800-33421400	Weak transcription	A549	lung
5	chr6:33400000-33420600	Strong transcription	Brain Germinal Matrix	brain
6	chr6:33401200-33420800	Strong transcription	Fetal Brain Female	brain
7	chr6:33401400-33421400	Weak transcription	Right Atrium	heart
8	chr6:33402000-33420600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:33402200-33420000	Strong transcription	Fetal Thymus	thymus
10	chr6:33402200-33420800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr6:33402400-33420800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:33402600-33420000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:33402600-33420400	Strong transcription	Fetal Stomach	stomach
14	chr6:33402600-33421400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:33402800-33420000	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr6:33402800-33420000	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:33402800-33420000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr6:33402800-33420200	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr6:33402800-33420200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr6:33403000-33420600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:33403200-33420200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:33403600-33420400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:33404000-33421200	Weak transcription	HSMM	muscle
24	chr6:33405400-33420400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:33406200-33421200	Weak transcription	Liver	Liver
26	chr6:33406400-33420800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:33406400-33421200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr6:33406400-33421400	Weak transcription	Colonic Mucosa	Colon
29	chr6:33406600-33421400	Weak transcription	HSMMtube	muscle
30	chr6:33406800-33421000	Weak transcription	NH-A	brain
31	chr6:33407200-33420400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr6:33408400-33421400	Weak transcription	Fetal Kidney	kidney
33	chr6:33408800-33419200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:33409400-33419800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr6:33410000-33420400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr6:33411200-33421400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr6:33411200-33421400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr6:33412400-33420800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr6:33413000-33419800	Weak transcription	Fetal Heart	heart
40	chr6:33413000-33421400	Weak transcription	Left Ventricle	heart
41	chr6:33413200-33420400	Weak transcription	Fetal Brain Male	brain
42	chr6:33414200-33421200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:33414200-33421200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr6:33414600-33421200	Weak transcription	Right Ventricle	heart
45	chr6:33415000-33421400	Weak transcription	GM12878-XiMat	blood
46	chr6:33415000-33421600	Weak transcription	Aorta	Aorta
47	chr6:33415400-33421400	Weak transcription	Gastric	stomach
48	chr6:33415600-33420400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr6:33415800-33421400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:33416000-33421000	Weak transcription	Adipose Nuclei	Adipose

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