Variant report

Variant	rs561104148
Chromosome Location	chr17:38678255-38678256
allele	C/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	TCF12	chr17:38677562-38678362	ECC-1	luminal epithelium:	n/a	n/a
2	CEBPB	chr17:38677668-38678280	Hela-S3	cervix:	n/a	n/a
3	FOS	chr17:38677622-38678292	MCF10A-Er-Src	breast:	n/a	chr17:38678116-38678126 chr17:38678117-38678125 chr17:38678116-38678127 chr17:38678116-38678126
4	ESR1	chr17:38677730-38678260	ECC-1	luminal epithelium:	n/a	chr17:38678001-38678016
5	FOXA2	chr17:38677582-38678316	A549	lung:	n/a	n/a
6	SIN3AK20	chr17:38677626-38678399	A549	lung:	n/a	n/a
7	MYC	chr17:38677672-38678271	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr17:38677436-38678470	ECC-1	luminal epithelium:	n/a	chr17:38677984-38677997
9	POLR2A	chr17:38677617-38678352	Hela-S3	cervix:	n/a	n/a
10	PRDM1	chr17:38677996-38678258	Hela-S3	cervix:	n/a	n/a
11	TCF7L2	chr17:38677735-38678286	Hela-S3	cervix:	n/a	chr17:38678117-38678126
12	EGR1	chr17:38678233-38678661	K562	blood:	n/a	chr17:38678351-38678364 chr17:38678351-38678364 chr17:38678492-38678501 chr17:38678351-38678364 chr17:38678354-38678364 chr17:38678354-38678363 chr17:38678350-38678365
13	FOSL2	chr17:38677597-38678303	A549	lung:	n/a	chr17:38678116-38678126 chr17:38678117-38678125 chr17:38678116-38678127 chr17:38678116-38678126
14	ZBTB33	chr17:38677531-38678282	A549	lung:	n/a	n/a
15	POLR2A	chr17:38677614-38679548	MCF10A-Er-Src	breast:	n/a	n/a
16	EP300	chr17:38677793-38678297	Hela-S3	cervix:	n/a	chr17:38677984-38677997
17	MAZ	chr17:38676785-38679269	IMR90	lung:	n/a	chr17:38676819-38676828 chr17:38676817-38676825 chr17:38676821-38676828 chr17:38677127-38677137
18	STAT3	chr17:38677657-38678313	MCF10A-Er-Src	breast:	n/a	chr17:38677792-38677804
19	SMARCC1	chr17:38676841-38678463	Hela-S3	cervix:	n/a	chr17:38678117-38678126
20	POLR2A	chr17:38677411-38678274	IMR90	lung:	n/a	n/a
21	ZKSCAN1	chr17:38677599-38678333	Hela-S3	cervix:	n/a	n/a
22	RAD21	chr17:38677596-38678320	IMR90	lung:	n/a	n/a
23	ELF1	chr17:38677519-38678305	A549	lung:	n/a	chr17:38677748-38677761
24	FOS	chr17:38677668-38678297	MCF10A-Er-Src	breast:	n/a	chr17:38678116-38678126 chr17:38678117-38678125 chr17:38678116-38678127 chr17:38678116-38678126
25	USF1	chr17:38677505-38678295	A549	lung:	n/a	n/a
26	NFIC	chr17:38677620-38678352	ECC-1	luminal epithelium:	n/a	n/a
27	BCL3	chr17:38677511-38678395	A549	lung:	n/a	n/a
28	GATA3	chr17:38677036-38678353	A549	lung:	n/a	n/a
29	TEAD4	chr17:38677660-38678356	ECC-1	luminal epithelium:	n/a	n/a
30	ETS1	chr17:38677674-38678313	A549	lung:	n/a	n/a
31	SIX5	chr17:38677243-38678765	A549	lung:	n/a	n/a
32	FOSL2	chr17:38677483-38678363	SK-N-SH	brain:	n/a	chr17:38678116-38678126 chr17:38678117-38678125 chr17:38678116-38678127 chr17:38678116-38678126
33	STAT3	chr17:38677699-38678298	MCF10A-Er-Src	breast:	n/a	chr17:38677792-38677804
34	CEBPB	chr17:38677556-38678433	A549	lung:	n/a	n/a
35	REST	chr17:38677132-38678934	A549	lung:	n/a	chr17:38678520-38678528 chr17:38677137-38677151 chr17:38677174-38677187 chr17:38677903-38677921
36	MAX	chr17:38677305-38678501	A549	lung:	n/a	n/a
37	STAT3	chr17:38677712-38678294	MCF10A-Er-Src	breast:	n/a	chr17:38677792-38677804
38	GABPA	chr17:38677428-38678345	A549	lung:	n/a	n/a
39	STAT3	chr17:38677678-38678306	MCF10A-Er-Src	breast:	n/a	chr17:38677792-38677804
40	SP1	chr17:38677390-38678568	A549	lung:	n/a	chr17:38677589-38677599 chr17:38677589-38677599
41	CEBPB	chr17:38677686-38678268	IMR90	lung:	n/a	n/a
42	TCF12	chr17:38676988-38680080	A549	lung:	n/a	chr17:38677183-38677190
43	RCOR1	chr17:38676712-38679035	IMR90	lung:	n/a	n/a
44	FOXM1	chr17:38677679-38678369	ECC-1	luminal epithelium:	n/a	n/a
45	CHD2	chr17:38677630-38678258	Hela-S3	cervix:	n/a	n/a
46	GABPA	chr17:38677347-38678319	A549	lung:	n/a	n/a
47	POLR2A	chr17:38677336-38678290	Hela-S3	cervix:	n/a	n/a
48	MAX	chr17:38677743-38678348	Hela-S3	cervix:	n/a	n/a
49	NR3C1	chr17:38677614-38678348	A549	lung:	n/a	chr17:38678117-38678126
50	JUND	chr17:38677484-38678370	A549	lung:	n/a	chr17:38678116-38678126 chr17:38678117-38678125 chr17:38678116-38678127 chr17:38678116-38678126

No.	Distal block	Cell Line	Cell type
1	chr17:38676796..38678412-chr17:38763235..38765302,2	MCF-7	breast:
2	chr17:38678096..38679987-chr17:38715270..38716866,2	MCF-7	breast:
3	chr17:38654640..38659414-chr17:38673768..38679140,6	MCF-7	breast:
4	chr17:38647398..38649761-chr17:38676727..38678938,2	K562	blood:
5	chr17:38639539..38641673-chr17:38677366..38679503,2	K562	blood:
6	chr17:38600130..38602545-chr17:38675909..38679796,4	MCF-7	breast:
7	chr17:38676325..38680650-chr17:38704875..38709448,7	MCF-7	breast:
8	chr17:38676381..38678576-chr17:38679743..38681770,2	K562	blood:
9	chr17:38677625..38680142-chr17:38696757..38698899,2	MCF-7	breast:
10	chr17:38569801..38571878-chr17:38675987..38678508,2	K562	blood:
11	chr17:38571667..38573665-chr17:38677679..38680655,2	K562	blood:
12	chr17:38629814..38633387-chr17:38676751..38679736,4	MCF-7	breast:
13	chr17:38675352..38677497-chr17:38677864..38681564,3	MCF-7	breast:
14	chr17:38671928..38674313-chr17:38677766..38679421,2	MCF-7	breast:
15	chr17:38677974..38679924-chr17:38691519..38693332,2	MCF-7	breast:
16	chr17:38673127..38676333-chr17:38678075..38682047,4	K562	blood:

Variant related genes	Relation type
ENSG00000266088	TF binding region
ENSG00000131746	Chromatin interaction
ENSG00000266088	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058185	chr17:38629339-38689908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3369555	chr17:38677926-38681324	Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38668400-38680600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:38671400-38679800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:38671600-38679400	Enhancers	Placenta	Placenta
4	chr17:38672200-38679200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr17:38672600-38680800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr17:38672800-38679200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr17:38674000-38679200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr17:38674200-38681200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr17:38675000-38679400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr17:38675400-38679200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr17:38675400-38680800	Enhancers	HMEC	breast
12	chr17:38675600-38686600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr17:38675800-38679200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr17:38677000-38678400	Enhancers	NHLF	lung
15	chr17:38677000-38679000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr17:38677000-38679200	Enhancers	HSMMtube	muscle
17	chr17:38677000-38679600	Enhancers	Dnd41	blood
18	chr17:38677000-38680800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr17:38677200-38678400	Flanking Active TSS	Hela-S3	cervix
20	chr17:38677200-38678400	Enhancers	NHDF-Ad	bronchial
21	chr17:38677200-38678600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:38677200-38678600	Enhancers	NH-A	brain
23	chr17:38677200-38678800	Enhancers	Osteobl	bone
24	chr17:38677200-38679800	Enhancers	Esophagus	oesophagus
25	chr17:38677400-38678400	Flanking Active TSS	A549	lung
26	chr17:38677400-38678600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr17:38677400-38678600	Enhancers	K562	blood
28	chr17:38677400-38679200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr17:38677400-38679200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr17:38677400-38679800	Weak transcription	Primary B cells from cord blood	blood
31	chr17:38677600-38678400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr17:38677600-38678800	Flanking Active TSS	NHEK	skin
33	chr17:38677600-38682200	Weak transcription	Spleen	Spleen
34	chr17:38677600-38687800	Weak transcription	Right Ventricle	heart
35	chr17:38677800-38680600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr17:38678000-38678400	Flanking Active TSS	HSMM	muscle
37	chr17:38678000-38678600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr17:38678000-38678800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr17:38678000-38679200	Enhancers	Primary T cells from cord blood	blood
40	chr17:38678000-38683000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr17:38678000-38686800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr17:38678200-38678400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr17:38678200-38678400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr17:38678200-38678400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr17:38678200-38679600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr17:38678200-38679600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr17:38678200-38684200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr17:38678200-38685200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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