Variant report

Variant	rs116554938
Chromosome Location	chr17:15554698-15554699
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	EP300	chr17:15554130-15555513	ECC-1	luminal epithelium:	n/a	chr17:15554331-15554347
2	RAD21	chr17:15554334-15555354	MCF-7	breast:	n/a	chr17:15554362-15554374
3	MXI1	chr17:15554317-15555449	Hela-S3	cervix:	n/a	chr17:15555238-15555247 chr17:15555240-15555249
4	POLR2A	chr17:15554368-15555476	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr17:15553120-15555494	MCF10A-Er-Src	breast:	n/a	n/a
6	MAX	chr17:15554379-15555449	A549	lung:	n/a	chr17:15555238-15555249 chr17:15555238-15555249 chr17:15555237-15555250 chr17:15555238-15555249 chr17:15555234-15555253 chr17:15555239-15555248 chr17:15555237-15555250 chr17:15555238-15555247 chr17:15555239-15555249 chr17:15555237-15555250 chr17:15555239-15555249
7	POLR2A	chr17:15554638-15555452	Hela-S3	cervix:	n/a	n/a
8	ELF1	chr17:15553937-15555363	A549	lung:	n/a	n/a
9	TCF12	chr17:15554296-15555302	A549	lung:	n/a	chr17:15554340-15554347
10	TCF12	chr17:15552877-15555623	A549	lung:	n/a	chr17:15554340-15554347
11	POLR2A	chr17:15554351-15555297	MCF-7	breast:	n/a	n/a
12	REST	chr17:15554498-15555536	A549	lung:	n/a	n/a
13	FOXP2	chr17:15554674-15555270	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr17:15554689-15555536	SK-N-SH	brain:	n/a	n/a
15	GTF2F1	chr17:15554188-15555428	Hela-S3	cervix:	n/a	n/a
16	FOSL2	chr17:15552988-15555470	A549	lung:	n/a	chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553340-15553351 chr17:15553338-15553347 chr17:15553338-15553348
17	GABPA	chr17:15554608-15555310	A549	lung:	n/a	n/a
18	MAX	chr17:15554482-15555441	NB4	blood:	n/a	chr17:15555238-15555249 chr17:15555238-15555249 chr17:15555237-15555250 chr17:15555238-15555249 chr17:15555234-15555253 chr17:15555239-15555248 chr17:15555237-15555250 chr17:15555238-15555247 chr17:15555239-15555249 chr17:15555237-15555250 chr17:15555239-15555249
19	PBX3	chr17:15554063-15555493	A549	lung:	n/a	n/a
20	BCL3	chr17:15553870-15555356	A549	lung:	n/a	n/a
21	ETS1	chr17:15554144-15555346	A549	lung:	n/a	n/a
22	MAX	chr17:15554029-15555520	HCT-116	colon:	n/a	chr17:15555238-15555249 chr17:15555238-15555249 chr17:15555237-15555250 chr17:15555238-15555249 chr17:15555234-15555253 chr17:15555239-15555248 chr17:15555237-15555250 chr17:15555238-15555247 chr17:15555239-15555249 chr17:15555237-15555250 chr17:15555239-15555249
23	MAFK	chr17:15554050-15555459	Hela-S3	cervix:	n/a	n/a
24	SP1	chr17:15554069-15555461	A549	lung:	n/a	n/a
25	POLR2A	chr17:15554260-15555445	HUVEC	blood vessel:	n/a	n/a
26	SP1	chr17:15554054-15555494	A549	lung:	n/a	n/a
27	POLR2A	chr17:15554538-15555511	U87	brain:	n/a	n/a
28	HDAC2	chr17:15554168-15555420	MCF-7	breast:	n/a	chr17:15555334-15555348
29	POLR2A	chr17:15554538-15555505	U87	brain:	n/a	n/a
30	POLR2A	chr17:15554181-15555409	MCF-7	breast:	n/a	n/a
31	BCL3	chr17:15554150-15555483	A549	lung:	n/a	n/a
32	TCF12	chr17:15554341-15555549	ECC-1	luminal epithelium:	n/a	n/a
33	CTCF	chr17:15554600-15554750	BE2_C	brain:	n/a	n/a
34	TCF12	chr17:15554312-15555378	ECC-1	luminal epithelium:	n/a	chr17:15554340-15554347
35	POLR2A	chr17:15554234-15555394	A549	lung:	n/a	n/a
36	USF2	chr17:15554118-15555444	Hela-S3	cervix:	n/a	chr17:15555237-15555248
37	MYC	chr17:15554482-15555432	NB4	blood:	n/a	chr17:15555238-15555249 chr17:15555238-15555249 chr17:15555237-15555250 chr17:15555238-15555249 chr17:15555234-15555253 chr17:15555239-15555248 chr17:15555237-15555250 chr17:15555238-15555247 chr17:15555239-15555249 chr17:15555237-15555250 chr17:15555239-15555249
38	PBX3	chr17:15554085-15555247	A549	lung:	n/a	n/a
39	TBP	chr17:15554559-15555496	Hela-S3	cervix:	n/a	n/a
40	RFX5	chr17:15554317-15555443	Hela-S3	cervix:	n/a	n/a
41	NFIC	chr17:15554269-15555469	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr17:15554620-15555502	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr17:15554560-15554710	AG04450	lung:	n/a	n/a
44	EP300	chr17:15554068-15555402	A549	lung:	n/a	chr17:15554331-15554347
45	CTCF	chr17:15554580-15554730	BJ	skin:	n/a	n/a
46	RCOR1	chr17:15554488-15555375	K562	blood:	n/a	n/a
47	MAX	chr17:15554024-15555433	Hela-S3	cervix:	n/a	chr17:15555238-15555249 chr17:15555238-15555249 chr17:15555237-15555250 chr17:15555238-15555249 chr17:15555234-15555253 chr17:15555239-15555248 chr17:15555237-15555250 chr17:15555238-15555247 chr17:15555239-15555249 chr17:15555237-15555250 chr17:15555239-15555249
48	CTCF	chr17:15554620-15554770	AG10803	skin:	n/a	n/a
49	RAD21	chr17:15554341-15555278	A549	lung:	n/a	chr17:15554362-15554374
50	RAD21	chr17:15554182-15555369	IMR90	lung:	n/a	chr17:15554362-15554374

No.	Distal block	Cell Line	Cell type
1	chr17:15553842..15556755-chr17:15901183..15904132,3	MCF-7	breast:
2	chr1:150551989..150552685-chr17:15554385..15554952,2	MCF-7	breast:
3	chr17:15552019..15554730-chr17:16119203..16121978,2	MCF-7	breast:
4	chr17:1303001..1303723-chr17:15554504..15555037,2	Hela-S3	cervix:
5	chr1:145610525..145611182-chr17:15554605..15555423,2	Hela-S3	cervix:
6	chr17:15551872..15554786-chr17:16116224..16118866,3	MCF-7	breast:
7	chr17:15553526..15556124-chr17:15902249..15904435,2	MCF-7	breast:
8	chr17:15554505..15555485-chr7:12250755..12251548,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000266261	TF binding region
ENSG00000011295	Chromatin interaction
ENSG00000108953	Chromatin interaction
ENSG00000186141	Chromatin interaction
ENSG00000141027	Chromatin interaction
ENSG00000214941	Chromatin interaction
ENSG00000106460	Chromatin interaction
ENSG00000108474	Chromatin interaction
ENSG00000121848	Chromatin interaction
ENSG00000143384	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv457695	chr17:15447364-15611495	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv574462	chr17:15447364-15611495	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv1067123	chr17:15482503-15557728	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv907704	chr17:15542933-15567196	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
12	nsv520426	chr17:15554561-15647723	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15549600-15554800	Weak transcription	GM12878-XiMat	blood
2	chr17:15551600-15555000	Active TSS	Psoas Muscle	Psoas
3	chr17:15551600-15555000	Flanking Active TSS	Hela-S3	cervix
4	chr17:15552200-15555200	Active TSS	Stomach Mucosa	stomach
5	chr17:15552200-15564600	Weak transcription	HepG2	liver
6	chr17:15552400-15555600	Active TSS	A549	lung
7	chr17:15552400-15555600	Active TSS	HSMM	muscle
8	chr17:15552400-15555600	Active TSS	HSMMtube	muscle
9	chr17:15553000-15555000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr17:15553000-15555000	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr17:15553000-15555000	Flanking Active TSS	HMEC	breast
12	chr17:15553000-15555400	Flanking Active TSS	HUVEC	blood vessel
13	chr17:15553000-15555600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:15553000-15555600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr17:15553000-15555600	Flanking Active TSS	Osteobl	bone
16	chr17:15553200-15554800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr17:15553200-15555000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:15553200-15555000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr17:15553200-15555000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr17:15553200-15555400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:15553200-15555400	Flanking Active TSS	Fetal Lung	lung
22	chr17:15553200-15555400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr17:15553200-15555600	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr17:15553400-15555000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:15553400-15555000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr17:15553400-15555200	Active TSS	Fetal Intestine Small	intestine
27	chr17:15553400-15555200	Active TSS	NHEK	skin
28	chr17:15553400-15555600	Active TSS	Aorta	Aorta
29	chr17:15553600-15554800	Enhancers	Primary hematopoietic stem cells	blood
30	chr17:15553600-15555000	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr17:15553600-15555200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr17:15553600-15555400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:15553600-15555400	Active TSS	Duodenum Mucosa	Duodenum
34	chr17:15553600-15555400	Active TSS	Fetal Intestine Large	intestine
35	chr17:15553600-15555600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr17:15553600-15555600	Active TSS	NHDF-Ad	bronchial
37	chr17:15553800-15555000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr17:15553800-15555000	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr17:15553800-15555200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr17:15553800-15555400	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr17:15554000-15554800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr17:15554000-15554800	Flanking Active TSS	Colonic Mucosa	Colon
43	chr17:15554000-15554800	Flanking Active TSS	Gastric	stomach
44	chr17:15554000-15555000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:15554000-15555000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr17:15554000-15555000	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr17:15554000-15555000	Active TSS	Fetal Brain Female	brain
48	chr17:15554000-15555000	Flanking Active TSS	Fetal Muscle Trunk	muscle
49	chr17:15554000-15555000	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr17:15554000-15555000	Flanking Active TSS	Lung	lung

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