Variant report

Variant	rs528758725
Chromosome Location	chr6:35480154-35480155
allele	G/T
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:0)
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	ZBTB7A	chr6:35479840-35480341	K562	blood:	n/a	n/a
2	RXRA	chr6:35479902-35480215	H1-hESC	embryonic stem cell:	n/a	chr6:35480059-35480075

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:35480129-35480179	HMEC	breast:	n/a
2	chr6:35480129-35480179	MCF10A-Er-Src	breast:	n/a
3	chr6:35480129-35480179	HUVEC	blood vessel:	n/a
4	chr6:35480129-35480179	HRCEpiC	kidney:	n/a
5	chr6:35480129-35480179	HNPCEpiC	eye:	n/a
6	chr6:35480129-35480179	GM12892	blood:	n/a
7	chr6:35480129-35480179	GM19239	blood:	n/a
8	chr6:35480129-35480179	ProgFib	skin:	n/a
9	chr6:35480129-35480179	AG04450	lung:	fetal
10	chr6:35480129-35480179	SKMC	muscle:	n/a
11	chr6:35480129-35480179	SK-N-SH	brain:	n/a
12	chr6:35480129-35480179	SK-N-MC	brain:	n/a
13	chr6:35480129-35480179	PANC-1	pancreas:	n/a
14	chr6:35480129-35480179	NHDF-neo	bronchial:	n/a
15	chr6:35480129-35480179	AG10803	skin:	n/a
16	chr6:35480129-35480179	HL-60	blood:	n/a
17	chr6:35480129-35480179	NB4	blood:	n/a
18	chr6:35480129-35480179	A549	lung:	n/a
19	chr6:35480129-35480179	U87	brain:	n/a
20	chr6:35480129-35480179	AG09319	gingival:	n/a
21	chr6:35480129-35480179	PFSK-1	brain:	n/a
22	chr6:35480129-35480179	BJ	skin:	n/a
23	chr6:35480129-35480179	HEK293	kidney:	embryo
24	chr6:35480129-35480179	NHBE	bronchial:	n/a
25	chr6:35480129-35480179	BE2_C	brain:	n/a
26	chr6:35480129-35480179	HCF	heart:	n/a
27	chr6:35480129-35480179	T-47D	breast:	n/a
28	chr6:35480129-35480179	PrEC	prostate:	n/a
29	chr6:35480129-35480179	HCPEpiC	choroid plexus:	n/a
30	chr6:35480129-35480179	RPTEC	kidney:	n/a
31	chr6:35480129-35480179	K562	blood:	n/a
32	chr6:35480129-35480179	ECC-1	luminal epithelium:	n/a
33	chr6:35480129-35480179	AoSMC	blood vessel:	n/a
34	chr6:35480129-35480179	Jurkat	blood:	n/a
35	chr6:35480129-35480179	ovcar-3	ovarian:	n/a
36	chr6:35480129-35480179	AG04449	skin:	fetal
37	chr6:35480129-35480179	Hela-S3	cervix:	n/a
38	chr6:35480129-35480179	NH-A	brain:	n/a
39	chr6:35480129-35480179	Caco-2	colon:	n/a
40	chr6:35480129-35480179	SK-N-SH_RA	brain:	n/a
41	chr6:35480129-35480179	HCM	heart:	n/a
42	chr6:35480129-35480179	GM06990	blood:	n/a
43	chr6:35480129-35480179	HAEpiC	amniotic membrane:	n/a
44	chr6:35480129-35480179	SAEC	small airway:	n/a
45	chr6:35480129-35480179	H1-hESC	embryonic stem cell:	embryo
46	chr6:35480129-35480179	HepG2	liver:	n/a
47	chr6:35480129-35480179	CMK	blood:	n/a
48	chr6:35480129-35480179	GM12878	blood:	n/a
49	chr6:35480129-35480179	HCT-116	colon:	n/a
50	chr6:35480129-35480179	HRPEpiC	eye:	n/a

No data

Variant related genes	Relation type
TULP1	TF binding region
TULP1	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
2	nsv462909	chr6:35457396-35502202	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
3	nsv602912	chr6:35457396-35502202	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
4	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	esv2761067	chr6:35471246-35573245	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv1022435	chr6:35476562-35556141	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1034786	chr6:35476562-35564799	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1031987	chr6:35476562-35579375	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	esv3421979	chr6:35478924-35481222	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35477400-35480200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:35478600-35480800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:35478800-35480200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr6:35478800-35480400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr6:35478800-35480800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:35479200-35480200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:35479200-35480200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr6:35479200-35480200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:35479200-35480200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
10	chr6:35479200-35480200	Bivalent/Poised TSS	Fetal Brain Female	brain
11	chr6:35479200-35480200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
12	chr6:35479200-35480200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
13	chr6:35479200-35480400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
14	chr6:35479400-35480200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:35479400-35480200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:35479400-35480200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
17	chr6:35479400-35480200	Bivalent Enhancer	Fetal Brain Male	brain
18	chr6:35479400-35480200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
19	chr6:35479400-35480200	Enhancers	Lung	lung
20	chr6:35479400-35480400	Enhancers	Fetal Lung	lung
21	chr6:35479400-35480600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr6:35479400-35480600	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr6:35479600-35480200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr6:35479600-35480200	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr6:35479600-35480200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:35479600-35480200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
27	chr6:35479600-35480400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:35479600-35480600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr6:35479600-35480800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:35479800-35480200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr6:35479800-35480200	Enhancers	Primary hematopoietic stem cells	blood
32	chr6:35480000-35480200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:35480000-35480200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:35480000-35480200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:35480000-35480200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:35480000-35480200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:35480000-35480200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:35480000-35480200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
39	chr6:35480000-35480200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr6:35480000-35480200	Bivalent Enhancer	Placenta	Placenta
41	chr6:35480000-35480200	Enhancers	Ovary	ovary
42	chr6:35480000-35480200	Enhancers	Right Atrium	heart
43	chr6:35480000-35480200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
44	chr6:35480000-35480200	Enhancers	Spleen	Spleen
45	chr6:35480000-35480400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr6:35480000-35480400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr6:35480000-35480400	Enhancers	Right Ventricle	heart
48	chr6:35480000-35480600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr6:35480000-35480800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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