Variant report

Variant	rs570469640
Chromosome Location	chr17:38277411-38277412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:38277248-38277945	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr17:38277304-38278457	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr17:38277349-38278403	HepG2	liver:	n/a	n/a
4	POLR2A	chr17:38277122-38279074	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr17:38277255-38280175	HUVEC	blood vessel:	n/a	n/a
6	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
7	SIN3A	chr17:38277323-38278391	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF1	chr17:38277235-38277959	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr17:38277332-38279925	K562	blood:	n/a	n/a
10	POLR2A	chr17:38277315-38278048	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr17:38277161-38278442	PANC-1	pancreas:	n/a	n/a
12	REST	chr17:38276918-38281234	H1-neurons	neurons:	n/a	chr17:38277546-38277559 chr17:38277832-38277845
13	TAF1	chr17:38277303-38278023	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr17:38277355-38279762	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr17:38277326-38277791	U87	brain:	n/a	n/a
16	REST	chr17:38277237-38277934	A549	lung:	n/a	chr17:38277546-38277559 chr17:38277832-38277845
17	TAF1	chr17:38277300-38278476	H1-neurons	neurons:	n/a	n/a
18	PBX3	chr17:38277178-38278469	A549	lung:	n/a	n/a
19	TCF12	chr17:38277112-38278606	A549	lung:	n/a	n/a
20	POLR2A	chr17:38277211-38278430	HUVEC	blood vessel:	n/a	n/a
21	JUND	chr17:38277302-38280095	A549	lung:	n/a	chr17:38278169-38278178 chr17:38278205-38278214
22	BRCA1	chr17:38277371-38277719	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr17:38277266-38277955	SK-N-MC	brain:	n/a	n/a
24	TAF1	chr17:38277236-38278494	A549	lung:	n/a	n/a
25	MAX	chr17:38277368-38280223	HepG2	liver:	n/a	n/a
26	MXI1	chr17:38276962-38281499	SK-N-SH	brain:	n/a	chr17:38277801-38277816
27	POLR2A	chr17:38277338-38277971	HCT-116	colon:	n/a	n/a
28	YY1	chr17:38277280-38277980	SK-N-SH_RA	brain:	n/a	chr17:38277826-38277840 chr17:38277477-38277489 chr17:38277768-38277777 chr17:38277472-38277491 chr17:38277766-38277777 chr17:38277480-38277488
29	POLR2A	chr17:38277382-38277580	H1-hESC	embryonic stem cell:	n/a	n/a
30	TAF1	chr17:38277249-38277670	H1-neurons	neurons:	n/a	n/a
31	MAX	chr17:38277095-38280963	A549	lung:	n/a	n/a
32	MXI1	chr17:38277361-38277913	Hela-S3	cervix:	n/a	chr17:38277801-38277816
33	POLR2A	chr17:38277323-38280202	K562	blood:	n/a	n/a
34	POLR2A	chr17:38277359-38279027	IMR90	lung:	n/a	n/a
35	YY1	chr17:38277272-38278603	SK-N-SH	brain:	n/a	chr17:38278141-38278150 chr17:38278243-38278254 chr17:38278138-38278152 chr17:38277826-38277840 chr17:38277477-38277489 chr17:38278239-38278253 chr17:38277768-38277777 chr17:38277472-38277491 chr17:38277766-38277777 chr17:38278138-38278147 chr17:38277480-38277488
36	SP1	chr17:38277220-38278537	A549	lung:	n/a	chr17:38278211-38278220 chr17:38278313-38278327 chr17:38278148-38278155 chr17:38278398-38278412 chr17:38278317-38278326
37	YY1	chr17:38277283-38277991	A549	lung:	n/a	chr17:38277826-38277840 chr17:38277477-38277489 chr17:38277768-38277777 chr17:38277472-38277491 chr17:38277766-38277777 chr17:38277480-38277488
38	POLR2A	chr17:38277139-38280351	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr17:38277104-38280152	MCF-7	breast:	n/a	n/a
40	YY1	chr17:38277371-38277948	K562	blood:	n/a	chr17:38277826-38277840 chr17:38277477-38277489 chr17:38277768-38277777 chr17:38277472-38277491 chr17:38277766-38277777 chr17:38277480-38277488
41	BCL3	chr17:38277168-38278078	A549	lung:	n/a	chr17:38277764-38277777
42	CHD2	chr17:38277318-38278451	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr17:38277331-38277652	K562	blood:	n/a	n/a
44	POLR2A	chr17:38277237-38279045	H1-neurons	neurons:	n/a	n/a
45	TAF1	chr17:38277337-38278423	SK-N-SH	brain:	n/a	n/a
46	YY1	chr17:38277063-38279397	SK-N-SH	brain:	n/a	chr17:38278141-38278150 chr17:38278243-38278254 chr17:38278138-38278152 chr17:38277826-38277840 chr17:38277477-38277489 chr17:38278239-38278253 chr17:38277768-38277777 chr17:38277472-38277491 chr17:38278654-38278663 chr17:38277766-38277777 chr17:38278138-38278147 chr17:38277480-38277488
47	POLR2A	chr17:38275179-38278647	SK-N-MC	brain:	n/a	n/a
48	MAX	chr17:38277332-38277942	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr17:38277065-38278030	U87	brain:	n/a	n/a
50	POLR2A	chr17:38277323-38278454	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38207226..38209173-chr17:38275974..38278338,2	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	chr17:38276248..38278417-chr17:38373940..38377017,3	MCF-7	breast:
6	chr17:38178218..38182497-chr17:38276428..38279757,5	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	chr17:38276983..38277924-chr6:31587852..31588427,2	Hela-S3	cervix:
12	chr17:38276870..38280410-chr17:38295018..38299576,8	K562	blood:
13	chr17:38218404..38220452-chr17:38276626..38279762,4	K562	blood:
14	chr17:38274785..38277489-chr17:38323556..38326542,2	MCF-7	breast:
15	chr17:38276815..38279338-chr17:38332365..38335401,3	MCF-7	breast:
16	chr17:38218404..38220452-chr17:38276626..38279762,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NR1D1-1	chr17:38276065-38277620	XLOC_012467
2	lnc-NR1D1-1	chr17:38277006-38277663	XLOC_012467
3	lnc-NR1D1-1	chr17:38275466-38277989	NONHSAT053517

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

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38276400-38277800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr17:38276400-38277800	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr17:38276600-38277600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:38276600-38277600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr17:38276600-38277600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
6	chr17:38276600-38277600	Flanking Active TSS	HMEC	breast
7	chr17:38276600-38277600	Flanking Active TSS	NHEK	skin
8	chr17:38276600-38277800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr17:38276600-38277800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:38276600-38280400	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr17:38276800-38277600	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr17:38276800-38277600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr17:38276800-38277600	Flanking Active TSS	Fetal Muscle Leg	muscle
14	chr17:38276800-38277600	Flanking Active TSS	Fetal Thymus	thymus
15	chr17:38276800-38277600	Flanking Active TSS	Hela-S3	cervix
16	chr17:38276800-38277600	Flanking Active TSS	HUVEC	blood vessel
17	chr17:38276800-38280600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr17:38276800-38280600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr17:38276800-38280800	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr17:38276800-38280800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr17:38276800-38280800	Active TSS	Fetal Kidney	kidney
22	chr17:38276800-38281000	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr17:38276800-38281000	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr17:38276800-38281800	Active TSS	NHLF	lung
25	chr17:38277000-38277600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr17:38277000-38277600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr17:38277000-38277800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr17:38277000-38277800	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr17:38277000-38277800	Active TSS	Fetal Brain Male	brain
30	chr17:38277000-38278000	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr17:38277000-38279000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr17:38277000-38279000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr17:38277000-38280200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:38277000-38280800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:38277000-38280800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr17:38277000-38280800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr17:38277000-38280800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr17:38277000-38280800	Active TSS	Brain Angular Gyrus	brain
39	chr17:38277000-38280800	Active TSS	Fetal Lung	lung
40	chr17:38277000-38280800	Active TSS	Rectal Smooth Muscle	rectum
41	chr17:38277000-38280800	Active TSS	GM12878-XiMat	blood
42	chr17:38277000-38281000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr17:38277000-38281400	Active TSS	NHDF-Ad	bronchial
44	chr17:38277000-38281600	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr17:38277000-38282000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr17:38277000-38282200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr17:38277200-38277600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr17:38277200-38277600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr17:38277200-38277600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr17:38277200-38277600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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