Variant report

Variant	rs112802391
Chromosome Location	chr17:19976783-19976784
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	RUNX3	chr17:19976434-19977269	GM12878	blood:	n/a	n/a
2	POLR2A	chr17:19976741-19976964	GM12878	blood:	n/a	n/a
3	ELF1	chr17:19976314-19977099	GM12878	blood:	n/a	chr17:19976490-19976503
4	REST	chr17:19976688-19977172	HL-60	blood:	n/a	chr17:19976930-19976950
5	ELF1	chr17:19976279-19977000	GM12878	blood:	n/a	chr17:19976490-19976503
6	CEBPB	chr17:19976727-19977036	K562	blood:	n/a	n/a
7	POLR2A	chr17:19976746-19977016	GM12878	blood:	n/a	n/a
8	RUNX3	chr17:19976684-19977117	GM12878	blood:	n/a	n/a
9	POLR2A	chr17:19976560-19977174	GM12892	blood:	n/a	n/a
10	POLR2A	chr17:19976332-19977205	HL-60	blood:	n/a	n/a
11	MAFK	chr17:19976725-19976820	K562	blood:	n/a	n/a
12	POLR2A	chr17:19976661-19977005	GM12891	blood:	n/a	n/a
13	POLR2A	chr17:19976629-19977192	HL-60	blood:	n/a	n/a
14	MYC	chr17:19976537-19977063	K562	blood:	n/a	n/a

Variant related genes	Relation type
SPECC1	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv907870	chr17:19871922-20001612	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv907872	chr17:19945841-19996140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1056224	chr17:19946604-19993026	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv543258	chr17:19946604-19993026	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1066594	chr17:19947874-19986671	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv543259	chr17:19947874-19986671	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	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
15	esv2762522	chr17:19976462-19996429	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19968000-19977000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr17:19968200-19977000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr17:19974200-19978000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr17:19975200-19976800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:19975200-19977000	Enhancers	Brain Cingulate Gyrus	brain
6	chr17:19975200-19977000	Enhancers	Ovary	ovary
7	chr17:19975200-19977600	Enhancers	K562	blood
8	chr17:19975400-19976800	Enhancers	Fetal Thymus	thymus
9	chr17:19975400-19977000	Enhancers	Brain Substantia Nigra	brain
10	chr17:19975400-19978000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr17:19975400-19978800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr17:19975600-19976800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:19975600-19976800	Enhancers	Fetal Muscle Leg	muscle
14	chr17:19975600-19976800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr17:19975600-19977200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr17:19975600-19977600	Enhancers	Brain Germinal Matrix	brain
17	chr17:19975800-19976800	Enhancers	Brain Angular Gyrus	brain
18	chr17:19975800-19977000	Enhancers	Fetal Muscle Trunk	muscle
19	chr17:19975800-19977200	Enhancers	A549	lung
20	chr17:19975800-19977600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr17:19975800-19978000	Enhancers	NHDF-Ad	bronchial
22	chr17:19975800-19978200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr17:19976000-19976800	Enhancers	Primary B cells from peripheral blood	blood
24	chr17:19976000-19976800	Weak transcription	Esophagus	oesophagus
25	chr17:19976000-19977000	Weak transcription	Left Ventricle	heart
26	chr17:19976000-19977000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr17:19976000-19977000	Weak transcription	Right Atrium	heart
28	chr17:19976000-19977000	Weak transcription	Right Ventricle	heart
29	chr17:19976000-19978200	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr17:19976000-19978200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:19976200-19977000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr17:19976200-19977000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr17:19976200-19977800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr17:19976200-19978000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr17:19976200-19978200	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr17:19976200-19988000	Weak transcription	Gastric	stomach
37	chr17:19976200-19989400	Weak transcription	Lung	lung
38	chr17:19976400-19976800	Enhancers	H9 Cell Line	embryonic stem cell
39	chr17:19976400-19977000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr17:19976400-19977000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr17:19976400-19977000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr17:19976400-19977200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr17:19976400-19977600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr17:19976400-19977600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr17:19976400-19977800	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr17:19976400-19978000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr17:19976400-19978000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr17:19976400-19978200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr17:19976400-19978200	Flanking Active TSS	GM12878-XiMat	blood
50	chr17:19976600-19976800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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