Variant report

Variant	rs114095112
Chromosome Location	chr17:20058689-20058690
allele	A/T
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	MAFK	chr17:20058658-20059822	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr17:20058248-20060182	GM19099	blood:	n/a	n/a
3	RUNX3	chr17:20058405-20060038	GM12878	blood:	n/a	n/a
4	MEF2C	chr17:20058541-20059408	GM12878	blood:	n/a	chr17:20058830-20058851 chr17:20058681-20058696 chr17:20058834-20058845 chr17:20058679-20058696 chr17:20058832-20058847 chr17:20058831-20058847
5	SP1	chr17:20058436-20059381	GM12878	blood:	n/a	chr17:20059276-20059288 chr17:20059214-20059226 chr17:20059276-20059288 chr17:20059214-20059226 chr17:20059216-20059225 chr17:20059277-20059286 chr17:20059278-20059287 chr17:20059137-20059149 chr17:20059215-20059224
6	NFATC1	chr17:20058583-20059313	GM12878	blood:	n/a	n/a
7	MEF2A	chr17:20058397-20059342	GM12878	blood:	n/a	chr17:20058830-20058851 chr17:20058681-20058696 chr17:20058834-20058845 chr17:20058679-20058696 chr17:20058832-20058847 chr17:20058831-20058847
8	ELK1	chr17:20058546-20059259	GM12878	blood:	n/a	n/a
9	FOXM1	chr17:20058379-20059387	GM12878	blood:	n/a	n/a
10	POLR2A	chr17:20058523-20060050	GM18951	blood:	n/a	n/a
11	NFIC	chr17:20058371-20059414	GM12878	blood:	n/a	n/a
12	RELA	chr17:20057945-20059382	GM18505	blood:	n/a	n/a
13	RELA	chr17:20058609-20059392	GM18951	blood:	n/a	n/a
14	EP300	chr17:20058528-20059223	GM12878	blood:	n/a	n/a
15	MTA3	chr17:20058345-20059378	GM12878	blood:	n/a	n/a
16	BATF	chr17:20058510-20058896	GM12878	blood:	n/a	n/a
17	POLR2A	chr17:20057946-20060189	GM12891	blood:	n/a	n/a
18	SMC3	chr17:20058435-20059272	GM12878	blood:	n/a	n/a
19	MTA3	chr17:20058449-20059260	GM12878	blood:	n/a	n/a
20	NFIC	chr17:20058496-20059395	GM12878	blood:	n/a	n/a
21	RELA	chr17:20057572-20060246	GM12891	blood:	n/a	n/a
22	NFATC1	chr17:20058526-20059290	GM12878	blood:	n/a	n/a
23	RELA	chr17:20058247-20059273	GM10847	blood:	n/a	n/a
24	PML	chr17:20058375-20059430	GM12878	blood:	n/a	n/a
25	REST	chr17:20058647-20060065	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr17:20058014-20059533	GM12891	blood:	n/a	n/a
27	BCL11A	chr17:20058472-20058844	GM12878	blood:	n/a	n/a
28	RELA	chr17:20058279-20060363	GM15510	blood:	n/a	n/a
29	RUNX3	chr17:20058248-20059767	GM12878	blood:	n/a	n/a
30	TBL1XR1	chr17:20058568-20059520	GM12878	blood:	n/a	n/a
31	POLR2A	chr17:20058413-20060223	GM19193	blood:	n/a	n/a
32	POLR2A	chr17:20057954-20060213	GM18505	blood:	n/a	n/a
33	EP300	chr17:20058615-20059511	GM12878	blood:	n/a	chr17:20059281-20059297
34	SP1	chr17:20058678-20059904	A549	lung:	n/a	chr17:20059276-20059288 chr17:20059214-20059226 chr17:20059585-20059597 chr17:20059276-20059288 chr17:20059606-20059620 chr17:20059214-20059226 chr17:20059587-20059596 chr17:20059216-20059225 chr17:20059277-20059286 chr17:20059278-20059287 chr17:20059137-20059149 chr17:20059215-20059224 chr17:20059586-20059596 chr17:20059585-20059597 chr17:20059802-20059815
35	POLR2A	chr17:20058298-20059721	GM12892	blood:	n/a	n/a
36	FOXM1	chr17:20058387-20059491	GM12878	blood:	n/a	n/a
37	MAX	chr17:20058631-20059538	GM12878	blood:	n/a	n/a
38	BATF	chr17:20058437-20059307	GM12878	blood:	n/a	n/a
39	RELA	chr17:20058216-20060213	GM19099	blood:	n/a	n/a
40	SIN3A	chr17:20058562-20060641	H1-hESC	embryonic stem cell:	n/a	chr17:20059556-20059569 chr17:20059123-20059134 chr17:20059556-20059567
41	RELA	chr17:20058488-20060179	GM19193	blood:	n/a	n/a
42	EBF1	chr17:20058606-20059144	GM12878	blood:	n/a	n/a
43	ATF2	chr17:20058615-20059310	GM12878	blood:	n/a	n/a
44	RELA	chr17:20058354-20059436	GM12892	blood:	n/a	n/a
45	BHLHE40	chr17:20058529-20060512	GM12878	blood:	n/a	chr17:20060204-20060217 chr17:20059224-20059240 chr17:20060206-20060215 chr17:20059567-20059583 chr17:20060205-20060214
46	POLR2A	chr17:20058057-20060143	GM12892	blood:	n/a	n/a
47	ATF2	chr17:20058419-20059429	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20057192..20060270-chr17:20108096..20110844,3	K562	blood:
2	chr17:19878871..19883594-chr17:20057277..20060362,4	K562	blood:

Variant related genes	Relation type
SPECC1	TF binding region
ENSG00000128487	Chromatin interaction
ENSG00000108599	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv907871	chr17:19927699-20088492	Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv482438	chr17:19934376-20089005	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv833395	chr17:19969959-20124084	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1067100	chr17:20007480-20464520	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv543260	chr17:20007480-20464520	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
10	nsv482830	chr17:20012748-20169153	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv833396	chr17:20029183-20150808	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv2003	chr17:20046306-20090653	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv3314150	chr17:20058385-20061233	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	esv3314151	chr17:20058385-20061233	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20029600-20058800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:20052800-20058800	Weak transcription	Adipose Nuclei	Adipose
3	chr17:20052800-20058800	Weak transcription	Aorta	Aorta
4	chr17:20054600-20058800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr17:20056200-20058800	Enhancers	Primary B cells from peripheral blood	blood
6	chr17:20056600-20058800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr17:20057000-20058800	Weak transcription	Brain Hippocampus Middle	brain
8	chr17:20057000-20058800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr17:20057000-20059000	Weak transcription	Colonic Mucosa	Colon
10	chr17:20057200-20058800	Weak transcription	Esophagus	oesophagus
11	chr17:20057400-20058800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr17:20057600-20058800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr17:20057800-20058800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr17:20058000-20058800	Enhancers	Primary hematopoietic stem cells	blood
15	chr17:20058000-20059000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr17:20058000-20059000	Enhancers	Fetal Heart	heart
17	chr17:20058200-20058800	Enhancers	Brain Cingulate Gyrus	brain
18	chr17:20058200-20059000	Weak transcription	Spleen	Spleen
19	chr17:20058400-20058800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr17:20058400-20058800	Enhancers	Primary T cells from cord blood	blood
21	chr17:20058400-20058800	Enhancers	Primary T cells fromperipheralblood	blood
22	chr17:20058400-20058800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr17:20058400-20058800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr17:20058400-20058800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr17:20058400-20058800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr17:20058400-20058800	Enhancers	K562	blood
27	chr17:20058400-20059000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
28	chr17:20058400-20059000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr17:20058400-20059000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr17:20058400-20059000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr17:20058400-20059000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr17:20058400-20059000	Flanking Active TSS	GM12878-XiMat	blood
33	chr17:20058400-20059200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr17:20058400-20060000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr17:20058400-20060200	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr17:20058600-20058800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr17:20058600-20058800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr17:20058600-20058800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr17:20058600-20058800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
40	chr17:20058600-20058800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
41	chr17:20058600-20058800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
42	chr17:20058600-20058800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr17:20058600-20058800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr17:20058600-20058800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr17:20058600-20058800	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr17:20058600-20058800	Enhancers	Brain Substantia Nigra	brain
47	chr17:20058600-20058800	Enhancers	Fetal Intestine Large	intestine
48	chr17:20058600-20058800	Bivalent Enhancer	Fetal Kidney	kidney
49	chr17:20058600-20058800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr17:20058600-20058800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

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