Variant report

Variant	rs536419748
Chromosome Location	chr17:38279935-38279936
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:173)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:173 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr17:38279732-38279938	HepG2	liver:	n/a	n/a
2	MAX	chr17:38279679-38280041	K562	blood:	n/a	n/a
3	CEBPB	chr17:38279412-38280284	A549	lung:	n/a	n/a
4	POLR2A	chr17:38278669-38279968	PFSK-1	brain:	n/a	n/a
5	SIN3AK20	chr17:38279383-38280395	A549	lung:	n/a	n/a
6	HNF4G	chr17:38279567-38280041	HepG2	liver:	n/a	chr17:38279816-38279831 chr17:38279816-38279834 chr17:38279818-38279832 chr17:38279819-38279831 chr17:38279814-38279836 chr17:38279818-38279831
7	MAX	chr17:38279358-38280203	ECC-1	luminal epithelium:	n/a	n/a
8	ZBTB7A	chr17:38277565-38280149	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr17:38279399-38280105	HepG2	liver:	n/a	n/a
10	SMC3	chr17:38279771-38280021	HepG2	liver:	n/a	n/a
11	NRF1	chr17:38279362-38280643	SK-N-SH	brain:	n/a	chr17:38279677-38279688 chr17:38279674-38279688 chr17:38279676-38279687 chr17:38279677-38279691
12	YY1	chr17:38279666-38280113	A549	lung:	n/a	n/a
13	POLR2A	chr17:38277255-38280175	HUVEC	blood vessel:	n/a	n/a
14	SIN3AK20	chr17:38279383-38280117	A549	lung:	n/a	n/a
15	ZBTB33	chr17:38279459-38280058	A549	lung:	n/a	n/a
16	PAX5	chr17:38279424-38280082	GM12878	blood:	n/a	n/a
17	MXI1	chr17:38279620-38280152	GM12878	blood:	n/a	n/a
18	MAX	chr17:38279490-38280110	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr17:38279368-38280156	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr17:38279433-38280178	GM12891	blood:	n/a	n/a
21	POLR2A	chr17:38278800-38279986	ECC-1	luminal epithelium:	n/a	n/a
22	REST	chr17:38276918-38281234	H1-neurons	neurons:	n/a	chr17:38277546-38277559 chr17:38277832-38277845
23	TAF1	chr17:38279428-38280180	PFSK-1	brain:	n/a	n/a
24	CEBPB	chr17:38279652-38280174	Hela-S3	cervix:	n/a	n/a
25	ZC3H11A	chr17:38279845-38280046	K562	blood:	n/a	n/a
26	MAX	chr17:38279521-38280219	SK-N-SH	brain:	n/a	n/a
27	MYC	chr17:38279676-38279958	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr17:38279106-38280153	K562	blood:	n/a	n/a
29	RUNX3	chr17:38279418-38280109	GM12878	blood:	n/a	n/a
30	SIN3AK20	chr17:38279599-38280105	PFSK-1	brain:	n/a	n/a
31	TCF12	chr17:38279509-38280105	A549	lung:	n/a	n/a
32	BRCA1	chr17:38279651-38280010	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr17:38279293-38280023	HCT-116	colon:	n/a	n/a
34	POLR2A	chr17:38279361-38280114	ECC-1	luminal epithelium:	n/a	n/a
35	CEBPB	chr17:38279812-38280176	K562	blood:	n/a	n/a
36	SIN3A	chr17:38279721-38280050	GM12878	blood:	n/a	n/a
37	CEBPD	chr17:38279469-38280056	HepG2	liver:	n/a	n/a
38	POLR2A	chr17:38278980-38280128	HCT-116	colon:	n/a	n/a
39	STAT5A	chr17:38279551-38280130	K562	blood:	n/a	chr17:38279840-38279852 chr17:38279842-38279854
40	SIN3A	chr17:38278595-38280150	H1-hESC	embryonic stem cell:	n/a	chr17:38280045-38280053
41	MAX	chr17:38279615-38279996	H1-hESC	embryonic stem cell:	n/a	n/a
42	RCOR1	chr17:38279671-38280054	K562	blood:	n/a	n/a
43	BCL3	chr17:38279351-38280211	A549	lung:	n/a	n/a
44	SIN3AK20	chr17:38277534-38280329	PANC-1	pancreas:	n/a	n/a
45	CHD2	chr17:38279528-38280030	H1-hESC	embryonic stem cell:	n/a	n/a
46	MTA3	chr17:38279523-38280027	GM12878	blood:	n/a	n/a
47	JUND	chr17:38277302-38280095	A549	lung:	n/a	chr17:38278169-38278178 chr17:38278205-38278214
48	BRCA1	chr17:38279654-38279982	HepG2	liver:	n/a	n/a
49	SIN3AK20	chr17:38279497-38280052	PFSK-1	brain:	n/a	n/a
50	MAZ	chr17:38277509-38280122	K562	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38276987..38281156-chr17:38471490..38477166,7	MCF-7	breast:
2	chr17:38274376..38281367-chr17:38331383..38338006,23	MCF-7	breast:
3	chr17:38169401..38172627-chr17:38277979..38280708,3	K562	blood:
4	chr17:38278214..38280293-chr17:38374121..38375969,2	K562	blood:
5	chr17:38277920..38280919-chr17:38344747..38347808,3	MCF-7	breast:
6	chr17:38278379..38280119-chr17:38316977..38319050,2	MCF-7	breast:
7	chr17:38255433..38258713-chr17:38276171..38280451,4	K562	blood:
8	chr17:38186956..38189285-chr17:38277209..38280047,2	MCF-7	breast:
9	chr17:38223441..38229037-chr17:38277080..38281500,5	MCF-7	breast:
10	chr17:38252517..38259251-chr17:38276179..38282890,16	MCF-7	breast:
11	chr17:38276870..38280410-chr17:38295018..38299576,8	K562	blood:
12	chr17:38210056..38212088-chr17:38279040..38281229,2	MCF-7	breast:
13	chr17:38278523..38280110-chr17:38474047..38475615,2	K562	blood:
14	chr17:38278634..38280743-chr17:38443874..38446945,3	K562	blood:
15	chr17:38216250..38218338-chr17:38278939..38280546,2	MCF-7	breast:

No data

Variant related genes	Relation type
MSL1	TF binding region
ENSG00000108349	Chromatin interaction
ENSG00000094804	Chromatin interaction
ENSG00000171475	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000108342	Chromatin interaction
ENSG00000126368	Chromatin interaction
ENSG00000126351	Chromatin interaction
ENSG00000265799	Chromatin interaction
ENSG00000008838	Chromatin interaction
ENSG00000131759	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908221	chr17:38216522-38289003	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv528369	chr17:38256693-38289003	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	esv3390348	chr17:38277176-38280199	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv3373189	chr17:38277451-38280299	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv3419940	chr17:38277676-38280124	Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv3423744	chr17:38278051-38280599	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38276600-38280400	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr17:38276800-38280600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr17:38276800-38280600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:38276800-38280800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr17:38276800-38280800	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr17:38276800-38280800	Active TSS	Fetal Kidney	kidney
7	chr17:38276800-38281000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr17:38276800-38281000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr17:38276800-38281800	Active TSS	NHLF	lung
10	chr17:38277000-38280200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr17:38277000-38280800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:38277000-38280800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr17:38277000-38280800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr17:38277000-38280800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr17:38277000-38280800	Active TSS	Brain Angular Gyrus	brain
16	chr17:38277000-38280800	Active TSS	Fetal Lung	lung
17	chr17:38277000-38280800	Active TSS	Rectal Smooth Muscle	rectum
18	chr17:38277000-38280800	Active TSS	GM12878-XiMat	blood
19	chr17:38277000-38281000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr17:38277000-38281400	Active TSS	NHDF-Ad	bronchial
21	chr17:38277000-38281600	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr17:38277000-38282000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:38277000-38282200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr17:38277200-38280600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr17:38277200-38280600	Active TSS	Fetal Intestine Small	intestine
26	chr17:38277200-38280600	Active TSS	NH-A	brain
27	chr17:38277200-38280800	Active TSS	H9 Cell Line	embryonic stem cell
28	chr17:38277200-38280800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr17:38277200-38280800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr17:38277200-38280800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr17:38277200-38280800	Active TSS	Fetal Intestine Large	intestine
32	chr17:38277200-38280800	Active TSS	Fetal Stomach	stomach
33	chr17:38277200-38280800	Active TSS	Ovary	ovary
34	chr17:38277200-38280800	Active TSS	Placenta Amnion	Placenta Amnion
35	chr17:38277200-38280800	Active TSS	HSMM	muscle
36	chr17:38277200-38280800	Active TSS	HSMMtube	muscle
37	chr17:38277200-38281000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr17:38277200-38281200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:38277200-38281200	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr17:38277200-38281200	Active TSS	Aorta	Aorta
41	chr17:38277200-38281200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr17:38277200-38281200	Active TSS	Fetal Muscle Trunk	muscle
43	chr17:38277200-38281200	Active TSS	Right Ventricle	heart
44	chr17:38277200-38281400	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr17:38277400-38280000	Active TSS	Brain Hippocampus Middle	brain
46	chr17:38277400-38280200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr17:38277400-38280200	Active TSS	Osteobl	bone
48	chr17:38277400-38280400	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr17:38277400-38280400	Active TSS	Small Intestine	intestine
50	chr17:38277400-38280600	Active TSS	Psoas Muscle	Psoas

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