Variant report

Variant	rs568299164
Chromosome Location	chr17:38277858-38277859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:164)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:164 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:38277748-38277908	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr17:38277248-38277945	SK-N-SH	brain:	n/a	n/a
3	TAF1	chr17:38277686-38278453	HepG2	liver:	n/a	n/a
4	POLR2A	chr17:38277593-38278769	HEK293	kidney:	n/a	n/a
5	ZBTB7A	chr17:38277542-38278663	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr17:38277304-38278457	Hela-S3	cervix:	n/a	n/a
7	SIN3AK20	chr17:38277418-38277860	A549	lung:	n/a	n/a
8	POLR2A	chr17:38277349-38278403	HepG2	liver:	n/a	n/a
9	POLR2A	chr17:38277122-38279074	H1-neurons	neurons:	n/a	n/a
10	ZBTB7A	chr17:38277565-38280149	ECC-1	luminal epithelium:	n/a	n/a
11	MAX	chr17:38277450-38278387	Hela-S3	cervix:	n/a	n/a
12	TFAP2C	chr17:38277545-38277968	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr17:38277255-38280175	HUVEC	blood vessel:	n/a	n/a
14	YY1	chr17:38277358-38277942	K562	blood:	n/a	chr17:38277826-38277840 chr17:38277477-38277489 chr17:38277768-38277777 chr17:38277472-38277491 chr17:38277766-38277777 chr17:38277480-38277488
15	SIN3A	chr17:38277323-38278391	H1-hESC	embryonic stem cell:	n/a	n/a
16	TAF1	chr17:38277235-38277959	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr17:38277656-38278422	HepG2	liver:	n/a	n/a
18	POLR2A	chr17:38277831-38279082	NB4	blood:	n/a	n/a
19	POLR2A	chr17:38277332-38279925	K562	blood:	n/a	n/a
20	E2F6	chr17:38277620-38277869	K562	blood:	n/a	n/a
21	POLR2A	chr17:38277315-38278048	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr17:38277161-38278442	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr17:38277463-38278371	HUVEC	blood vessel:	n/a	n/a
24	REST	chr17:38276918-38281234	H1-neurons	neurons:	n/a	chr17:38277546-38277559 chr17:38277832-38277845
25	POLR2A	chr17:38277636-38279046	HepG2	liver:	n/a	n/a
26	TAF1	chr17:38277303-38278023	PFSK-1	brain:	n/a	n/a
27	TAF1	chr17:38277607-38278600	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr17:38277355-38279762	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr17:38277675-38278452	GM12878	blood:	n/a	n/a
30	NRF1	chr17:38277572-38278442	SK-N-SH	brain:	n/a	chr17:38278216-38278230 chr17:38278219-38278228 chr17:38278219-38278230 chr17:38278218-38278229
31	MAX	chr17:38277681-38278388	HepG2	liver:	n/a	n/a
32	REST	chr17:38277237-38277934	A549	lung:	n/a	chr17:38277546-38277559 chr17:38277832-38277845
33	MAX	chr17:38277525-38278473	K562	blood:	n/a	n/a
34	TAF1	chr17:38277300-38278476	H1-neurons	neurons:	n/a	n/a
35	PBX3	chr17:38277178-38278469	A549	lung:	n/a	n/a
36	TCF12	chr17:38277112-38278606	A549	lung:	n/a	n/a
37	POLR2A	chr17:38277619-38279861	GM19193	blood:	n/a	n/a
38	SIN3AK20	chr17:38277534-38280329	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr17:38277211-38278430	HUVEC	blood vessel:	n/a	n/a
40	JUND	chr17:38277302-38280095	A549	lung:	n/a	chr17:38278169-38278178 chr17:38278205-38278214
41	POLR2A	chr17:38277642-38278480	MCF-7	breast:	n/a	n/a
42	MAZ	chr17:38277509-38280122	K562	blood:	n/a	n/a
43	HEY1	chr17:38277413-38278032	HepG2	liver:	n/a	chr17:38277828-38277843
44	POLR2A	chr17:38277266-38277955	SK-N-MC	brain:	n/a	n/a
45	TAF1	chr17:38277236-38278494	A549	lung:	n/a	n/a
46	MAX	chr17:38277368-38280223	HepG2	liver:	n/a	n/a
47	POLR2A	chr17:38277535-38278483	HL-60	blood:	n/a	n/a
48	CREB1	chr17:38277566-38278466	A549	lung:	n/a	n/a
49	HMGN3	chr17:38277693-38279546	K562	blood:	n/a	n/a
50	MXI1	chr17:38276962-38281499	SK-N-SH	brain:	n/a	chr17:38277801-38277816

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38277696..38279723-chr17:38323244..38326334,3	K562	blood:
2	chr17:38207226..38209173-chr17:38275974..38278338,2	K562	blood:
3	chr17:38276987..38281156-chr17:38471490..38477166,7	MCF-7	breast:
4	chr17:38274376..38281367-chr17:38331383..38338006,23	MCF-7	breast:
5	chr17:38275824..38279709-chr17:38496937..38502326,5	K562	blood:
6	chr17:38277549..38278389-chr5:172197756..172198597,2	Hela-S3	cervix:
7	chr17:38276248..38278417-chr17:38373940..38377017,3	MCF-7	breast:
8	chr17:38277769..38278293-chr19:58873482..58874270,2	Hela-S3	cervix:
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	chr17:38276983..38277924-chr6:31587852..31588427,2	Hela-S3	cervix:
16	chr17:38276870..38280410-chr17:38295018..38299576,8	K562	blood:
17	chr17:38218404..38220452-chr17:38276626..38279762,4	K562	blood:
18	chr17:38276815..38279338-chr17:38332365..38335401,3	MCF-7	breast:
19	chr17:38218404..38220452-chr17:38276626..38279762,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NR1D1-1	chr17:38275466-38277989	NONHSAT053517

No data

Variant related genes	Relation type
MSL1	TF binding region
ENSG00000131759	Chromatin interaction
ENSG00000265666	Chromatin interaction
ENSG00000269054	Chromatin interaction
ENSG00000268230	Chromatin interaction
ENSG00000008838	Chromatin interaction
ENSG00000171475	Chromatin interaction
ENSG00000108349	Chromatin interaction
ENSG00000126351	Chromatin interaction
ENSG00000126368	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000120129	Chromatin interaction
ENSG00000174586	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	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

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	chr17:38277000-38278000	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr17:38277000-38279000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:38277000-38279000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr17:38277000-38280200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:38277000-38280800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:38277000-38280800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr17:38277000-38280800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:38277000-38280800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr17:38277000-38280800	Active TSS	Brain Angular Gyrus	brain
19	chr17:38277000-38280800	Active TSS	Fetal Lung	lung
20	chr17:38277000-38280800	Active TSS	Rectal Smooth Muscle	rectum
21	chr17:38277000-38280800	Active TSS	GM12878-XiMat	blood
22	chr17:38277000-38281000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:38277000-38281400	Active TSS	NHDF-Ad	bronchial
24	chr17:38277000-38281600	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr17:38277000-38282000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:38277000-38282200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr17:38277200-38278000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr17:38277200-38278000	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr17:38277200-38278000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr17:38277200-38279200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr17:38277200-38280600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr17:38277200-38280600	Active TSS	Fetal Intestine Small	intestine
33	chr17:38277200-38280600	Active TSS	NH-A	brain
34	chr17:38277200-38280800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr17:38277200-38280800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr17:38277200-38280800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr17:38277200-38280800	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr17:38277200-38280800	Active TSS	Fetal Intestine Large	intestine
39	chr17:38277200-38280800	Active TSS	Fetal Stomach	stomach
40	chr17:38277200-38280800	Active TSS	Ovary	ovary
41	chr17:38277200-38280800	Active TSS	Placenta Amnion	Placenta Amnion
42	chr17:38277200-38280800	Active TSS	HSMM	muscle
43	chr17:38277200-38280800	Active TSS	HSMMtube	muscle
44	chr17:38277200-38281000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr17:38277200-38281200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr17:38277200-38281200	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr17:38277200-38281200	Active TSS	Aorta	Aorta
48	chr17:38277200-38281200	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr17:38277200-38281200	Active TSS	Fetal Muscle Trunk	muscle
50	chr17:38277200-38281200	Active TSS	Right Ventricle	heart

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