Variant report

Variant	rs560044952
Chromosome Location	chr17:38278780-38278781
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:120)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:120 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:38278722-38279015	K562	blood:	n/a	n/a
2	POLR2A	chr17:38278669-38279968	PFSK-1	brain:	n/a	n/a
3	RUNX3	chr17:38278773-38279009	GM12878	blood:	n/a	n/a
4	CREB1	chr17:38278496-38279027	A549	lung:	n/a	n/a
5	POLR2A	chr17:38277122-38279074	H1-neurons	neurons:	n/a	n/a
6	ZBTB7A	chr17:38277565-38280149	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr17:38278386-38279816	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr17:38277255-38280175	HUVEC	blood vessel:	n/a	n/a
9	E2F6	chr17:38278563-38278787	K562	blood:	n/a	chr17:38278652-38278662 chr17:38278764-38278772 chr17:38278654-38278663 chr17:38278764-38278772 chr17:38278762-38278773 chr17:38278763-38278773 chr17:38278765-38278772
10	POLR2A	chr17:38278491-38278784	GM12878	blood:	n/a	n/a
11	CHD1	chr17:38278605-38279099	GM12878	blood:	n/a	n/a
12	POLR2A	chr17:38277831-38279082	NB4	blood:	n/a	n/a
13	POLR2A	chr17:38277332-38279925	K562	blood:	n/a	n/a
14	POLR2A	chr17:38278506-38278993	Gliobla	brain:	n/a	n/a
15	CTCF	chr17:38278780-38278930	HRE	kidney:	n/a	n/a
16	POLR2A	chr17:38278780-38279168	HUVEC	blood vessel:	n/a	n/a
17	REST	chr17:38276918-38281234	H1-neurons	neurons:	n/a	chr17:38277546-38277559 chr17:38277832-38277845
18	POLR2A	chr17:38277636-38279046	HepG2	liver:	n/a	n/a
19	TAF1	chr17:38278556-38279041	K562	blood:	n/a	n/a
20	POLR2A	chr17:38277355-38279762	Hela-S3	cervix:	n/a	n/a
21	TBP	chr17:38278727-38278981	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr17:38278503-38279884	HCT-116	colon:	n/a	n/a
23	CHD2	chr17:38278671-38279084	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr17:38278765-38279708	HUVEC	blood vessel:	n/a	n/a
25	EP300	chr17:38278027-38278952	ECC-1	luminal epithelium:	n/a	chr17:38278651-38278660 chr17:38278659-38278675 chr17:38278143-38278152 chr17:38278140-38278149 chr17:38278684-38278700
26	SIN3A	chr17:38278595-38280150	H1-hESC	embryonic stem cell:	n/a	chr17:38280045-38280053
27	POLR2A	chr17:38278439-38279172	GM12878	blood:	n/a	n/a
28	CTCF	chr17:38278780-38278930	HFF-Myc	foreskin:	n/a	n/a
29	ZBTB7A	chr17:38278485-38279571	K562	blood:	n/a	n/a
30	POLR2A	chr17:38278749-38279023	Hela-S3	cervix:	n/a	n/a
31	NR3C1	chr17:38277991-38279519	A549	lung:	n/a	n/a
32	POLR2A	chr17:38277619-38279861	GM19193	blood:	n/a	n/a
33	POLR2A	chr17:38278460-38278784	GM12878	blood:	n/a	n/a
34	SIN3AK20	chr17:38277534-38280329	PANC-1	pancreas:	n/a	n/a
35	JUND	chr17:38277302-38280095	A549	lung:	n/a	chr17:38278169-38278178 chr17:38278205-38278214
36	PAX5	chr17:38278492-38279291	GM12892	blood:	n/a	n/a
37	POLR2A	chr17:38278558-38279030	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAZ	chr17:38277509-38280122	K562	blood:	n/a	n/a
39	MAX	chr17:38277368-38280223	HepG2	liver:	n/a	n/a
40	POLR2A	chr17:38278471-38279905	A549	lung:	n/a	n/a
41	SMARCB1	chr17:38278632-38279843	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr17:38278730-38279009	H1-hESC	embryonic stem cell:	n/a	n/a
43	HMGN3	chr17:38277693-38279546	K562	blood:	n/a	n/a
44	MXI1	chr17:38276962-38281499	SK-N-SH	brain:	n/a	chr17:38277801-38277816
45	POLR2A	chr17:38277597-38279039	GM12878	blood:	n/a	n/a
46	POLR2A	chr17:38277474-38279826	MCF-7	breast:	n/a	n/a
47	POLR2A	chr17:38277420-38279349	ProgFib	skin:	n/a	n/a
48	MAX	chr17:38277095-38280963	A549	lung:	n/a	n/a
49	POLR2A	chr17:38278041-38279075	GM10847	blood:	n/a	n/a
50	POLR2A	chr17:38277323-38280202	K562	blood:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38277696..38279723-chr17:38323244..38326334,3	K562	blood:
2	chr17:38276987..38281156-chr17:38471490..38477166,7	MCF-7	breast:
3	chr17:38274376..38281367-chr17:38331383..38338006,23	MCF-7	breast:
4	chr17:38275824..38279709-chr17:38496937..38502326,5	K562	blood:
5	chr17:38169401..38172627-chr17:38277979..38280708,3	K562	blood:
6	chr17:38278214..38280293-chr17:38374121..38375969,2	K562	blood:
7	chr17:38277920..38280919-chr17:38344747..38347808,3	MCF-7	breast:
8	chr17:38278379..38280119-chr17:38316977..38319050,2	MCF-7	breast:
9	chr17:38178218..38182497-chr17:38276428..38279757,5	MCF-7	breast:
10	chr17:38255433..38258713-chr17:38276171..38280451,4	K562	blood:
11	chr17:38186956..38189285-chr17:38277209..38280047,2	MCF-7	breast:
12	chr17:38223441..38229037-chr17:38277080..38281500,5	MCF-7	breast:
13	chr17:38277703..38279802-chr17:38323101..38325533,2	MCF-7	breast:
14	chr17:38252517..38259251-chr17:38276179..38282890,16	MCF-7	breast:
15	chr17:38276870..38280410-chr17:38295018..38299576,8	K562	blood:
16	chr17:38278523..38280110-chr17:38474047..38475615,2	K562	blood:
17	chr17:38278634..38280743-chr17:38443874..38446945,3	K562	blood:
18	chr17:38218404..38220452-chr17:38276626..38279762,4	K562	blood:
19	chr17:38276815..38279338-chr17:38332365..38335401,3	MCF-7	breast:
20	chr17:38218404..38220452-chr17:38276626..38279762,3	K562	blood:

No data

Variant related genes	Relation type
MSL1	TF binding region
ENSG00000126368	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000008838	Chromatin interaction
ENSG00000171475	Chromatin interaction
ENSG00000126351	Chromatin interaction
ENSG00000265799	Chromatin interaction
ENSG00000108342	Chromatin interaction
ENSG00000094804	Chromatin interaction
ENSG00000108349	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000265666	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv3405142	chr17:38277051-38279599	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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	chr17:38277000-38279000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr17:38277000-38279000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr17:38277000-38280200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr17:38277000-38280800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:38277000-38280800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr17:38277000-38280800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr17:38277000-38280800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr17:38277000-38280800	Active TSS	Brain Angular Gyrus	brain
18	chr17:38277000-38280800	Active TSS	Fetal Lung	lung
19	chr17:38277000-38280800	Active TSS	Rectal Smooth Muscle	rectum
20	chr17:38277000-38280800	Active TSS	GM12878-XiMat	blood
21	chr17:38277000-38281000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr17:38277000-38281400	Active TSS	NHDF-Ad	bronchial
23	chr17:38277000-38281600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr17:38277000-38282000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:38277000-38282200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr17:38277200-38279200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr17:38277200-38280600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr17:38277200-38280600	Active TSS	Fetal Intestine Small	intestine
29	chr17:38277200-38280600	Active TSS	NH-A	brain
30	chr17:38277200-38280800	Active TSS	H9 Cell Line	embryonic stem cell
31	chr17:38277200-38280800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr17:38277200-38280800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:38277200-38280800	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr17:38277200-38280800	Active TSS	Fetal Intestine Large	intestine
35	chr17:38277200-38280800	Active TSS	Fetal Stomach	stomach
36	chr17:38277200-38280800	Active TSS	Ovary	ovary
37	chr17:38277200-38280800	Active TSS	Placenta Amnion	Placenta Amnion
38	chr17:38277200-38280800	Active TSS	HSMM	muscle
39	chr17:38277200-38280800	Active TSS	HSMMtube	muscle
40	chr17:38277200-38281000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr17:38277200-38281200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:38277200-38281200	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr17:38277200-38281200	Active TSS	Aorta	Aorta
44	chr17:38277200-38281200	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr17:38277200-38281200	Active TSS	Fetal Muscle Trunk	muscle
46	chr17:38277200-38281200	Active TSS	Right Ventricle	heart
47	chr17:38277200-38281400	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr17:38277400-38279800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
49	chr17:38277400-38280000	Active TSS	Brain Hippocampus Middle	brain
50	chr17:38277400-38280200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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