Variant report

Variant	rs528095917
Chromosome Location	chr17:38277261-38277262
allele	A/C
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	chr17:38277122-38279074	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr17:38277255-38280175	HUVEC	blood vessel:	n/a	n/a
4	TAF1	chr17:38277235-38277959	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr17:38277161-38278442	PANC-1	pancreas:	n/a	n/a
6	REST	chr17:38276918-38281234	H1-neurons	neurons:	n/a	chr17:38277546-38277559 chr17:38277832-38277845
7	REST	chr17:38277237-38277934	A549	lung:	n/a	chr17:38277546-38277559 chr17:38277832-38277845
8	PBX3	chr17:38277178-38278469	A549	lung:	n/a	n/a
9	TCF12	chr17:38277112-38278606	A549	lung:	n/a	n/a
10	POLR2A	chr17:38277211-38278430	HUVEC	blood vessel:	n/a	n/a
11	TAF1	chr17:38277236-38278494	A549	lung:	n/a	n/a
12	MXI1	chr17:38276962-38281499	SK-N-SH	brain:	n/a	chr17:38277801-38277816
13	TAF1	chr17:38277249-38277670	H1-neurons	neurons:	n/a	n/a
14	MAX	chr17:38277095-38280963	A549	lung:	n/a	n/a
15	SP1	chr17:38277220-38278537	A549	lung:	n/a	chr17:38278211-38278220 chr17:38278313-38278327 chr17:38278148-38278155 chr17:38278398-38278412 chr17:38278317-38278326
16	POLR2A	chr17:38277139-38280351	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr17:38277104-38280152	MCF-7	breast:	n/a	n/a
18	BCL3	chr17:38277168-38278078	A549	lung:	n/a	chr17:38277764-38277777
19	POLR2A	chr17:38277237-38279045	H1-neurons	neurons:	n/a	n/a
20	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
21	POLR2A	chr17:38275179-38278647	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr17:38277065-38278030	U87	brain:	n/a	n/a
23	NFIC	chr17:38277261-38277978	HepG2	liver:	n/a	chr17:38277793-38277810 chr17:38277794-38277810
24	MXI1	chr17:38277049-38281505	IMR90	lung:	n/a	chr17:38277801-38277816
25	REST	chr17:38277174-38278058	A549	lung:	n/a	chr17:38277546-38277559 chr17:38277832-38277845
26	MTA3	chr17:38277188-38277711	GM12878	blood:	n/a	n/a
27	POLR2A	chr17:38277172-38278541	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr17:38277040-38278030	U87	brain:	n/a	n/a
29	MAZ	chr17:38277192-38280306	IMR90	lung:	n/a	n/a
30	POLR2A	chr17:38277107-38279973	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr17:38277129-38280098	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr17:38277166-38279164	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr17:38276843-38280747	HepG2	liver:	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
ENSG00000008838	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000171475	Chromatin interaction
ENSG00000126351	Chromatin interaction
ENSG00000126368	Chromatin interaction
ENSG00000265666	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000108349	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38270400-38277400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr17:38271600-38277400	Weak transcription	Pancreas	Pancrea
3	chr17:38274800-38277400	Weak transcription	Small Intestine	intestine
4	chr17:38276400-38277400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr17:38276400-38277400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr17:38276400-38277400	Enhancers	Colonic Mucosa	Colon
7	chr17:38276400-38277400	Enhancers	Psoas Muscle	Psoas
8	chr17:38276400-38277800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr17:38276400-38277800	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr17:38276600-38277400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr17:38276600-38277400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr17:38276600-38277400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr17:38276600-38277400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr17:38276600-38277400	Weak transcription	Gastric	stomach
15	chr17:38276600-38277400	Enhancers	Spleen	Spleen
16	chr17:38276600-38277400	Flanking Active TSS	Osteobl	bone
17	chr17:38276600-38277600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr17:38276600-38277600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr17:38276600-38277600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr17:38276600-38277600	Flanking Active TSS	HMEC	breast
21	chr17:38276600-38277600	Flanking Active TSS	NHEK	skin
22	chr17:38276600-38277800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr17:38276600-38277800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:38276600-38280400	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr17:38276800-38277400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr17:38276800-38277400	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr17:38276800-38277400	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr17:38276800-38277400	Enhancers	Stomach Mucosa	stomach
29	chr17:38276800-38277400	Flanking Active TSS	A549	lung
30	chr17:38276800-38277600	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr17:38276800-38277600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr17:38276800-38277600	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr17:38276800-38277600	Flanking Active TSS	Fetal Thymus	thymus
34	chr17:38276800-38277600	Flanking Active TSS	Hela-S3	cervix
35	chr17:38276800-38277600	Flanking Active TSS	HUVEC	blood vessel
36	chr17:38276800-38280600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr17:38276800-38280600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr17:38276800-38280800	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr17:38276800-38280800	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr17:38276800-38280800	Active TSS	Fetal Kidney	kidney
41	chr17:38276800-38281000	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr17:38276800-38281000	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr17:38276800-38281800	Active TSS	NHLF	lung
44	chr17:38277000-38277400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr17:38277000-38277400	Active TSS	Brain Germinal Matrix	brain
46	chr17:38277000-38277400	Active TSS	Fetal Brain Female	brain
47	chr17:38277000-38277400	Flanking Active TSS	HepG2	liver
48	chr17:38277000-38277600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr17:38277000-38277600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr17:38277000-38277800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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