Variant report

Variant	rs527986618
Chromosome Location	chr7:129142081-129142082
allele	-/CCCGCGCCCGCCCCCTCGC
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	ELF1	chr7:129141996-129142551	MCF-7	breast:	n/a	n/a
2	MAX	chr7:129142027-129143009	HepG2	liver:	n/a	n/a
3	TAF1	chr7:129141847-129142657	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr7:129142000-129142786	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr7:129141765-129143130	A549	lung:	n/a	n/a
6	MXI1	chr7:129141569-129143724	SK-N-SH	brain:	n/a	chr7:129142293-129142308
7	POLR2A	chr7:129141982-129142652	H1-neurons	neurons:	n/a	n/a
8	MAX	chr7:129142036-129142679	SK-N-SH	brain:	n/a	n/a
9	E2F4	chr7:129141822-129142404	MCF10A-Er-Src	breast:	n/a	n/a
10	HA-E2F1	chr7:129141408-129143106	MCF-7	breast:	n/a	chr7:129142698-129142712
11	MAX	chr7:129142023-129143295	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr7:129142005-129142821	MCF-7	breast:	n/a	n/a
13	SIN3A	chr7:129141858-129143334	H1-hESC	embryonic stem cell:	n/a	chr7:129142283-129142294 chr7:129142195-129142204
14	MAX	chr7:129141668-129142939	MCF-7	breast:	n/a	n/a
15	REST	chr7:129141886-129142947	H1-neurons	neurons:	n/a	chr7:129142900-129142913 chr7:129142703-129142723
16	POLR2A	chr7:129142016-129142670	A549	lung:	n/a	n/a
17	ELF1	chr7:129141935-129143159	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:129141930-129142694	MCF-7	breast:	n/a	n/a
19	ELF1	chr7:129142027-129142653	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:129142007-129142606	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr7:129142035-129142621	GM15510	blood:	n/a	n/a
22	POLR2A	chr7:129141960-129142725	GM12892	blood:	n/a	n/a
23	POLR2A	chr7:129141988-129142621	GM19099	blood:	n/a	n/a
24	POLR2A	chr7:129142001-129142901	GM12892	blood:	n/a	n/a
25	HA-E2F1	chr7:129142003-129142468	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr7:129142020-129142711	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr7:129141978-129142550	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:128862636..128865560-chr7:129140029..129143022,2	K562	blood:
2	chr7:129139139..129142160-chr7:129272114..129275915,3	MCF-7	breast:
3	chr7:129141127..129144491-chr7:129250183..129252967,6	MCF-7	breast:
4	chr7:129139279..129144298-chr7:129248057..129253593,12	MCF-7	breast:

Variant related genes	Relation type
SMKR1	TF binding region
ENSG00000158467	Chromatin interaction
ENSG00000273329	Chromatin interaction
ENSG00000106459	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	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3476763	chr7:129141037-129143315	Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3476762	chr7:129141086-129143283	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv3476765	chr7:129141108-129143242	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv3476766	chr7:129141178-129143206	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129141000-129142200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:129141200-129143000	Active TSS	Brain Anterior Caudate	brain
3	chr7:129141400-129142800	Flanking Active TSS	Dnd41	blood
4	chr7:129141400-129143000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:129141400-129143200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr7:129141400-129143200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr7:129141400-129143200	Active TSS	Hela-S3	cervix
8	chr7:129141400-129143400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:129141600-129142200	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr7:129141600-129142200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:129141600-129142400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:129141600-129142400	Active TSS	Primary hematopoietic stem cells	blood
13	chr7:129141600-129142400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr7:129141600-129142400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:129141600-129142400	Active TSS	Adipose Nuclei	Adipose
16	chr7:129141600-129142400	Active TSS	Thymus	Thymus
17	chr7:129141600-129142400	Active TSS	NHEK	skin
18	chr7:129141600-129142600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:129141600-129142600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:129141600-129142600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr7:129141600-129142800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr7:129141600-129142800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:129141600-129142800	Active TSS	Brain Germinal Matrix	brain
24	chr7:129141600-129142800	Active TSS	Brain Hippocampus Middle	brain
25	chr7:129141600-129142800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr7:129141600-129142800	Bivalent/Poised TSS	Fetal Lung	lung
27	chr7:129141600-129143000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr7:129141600-129143000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:129141600-129143200	Active TSS	H9 Cell Line	embryonic stem cell
30	chr7:129141600-129143200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:129141600-129143200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr7:129141600-129143200	Active TSS	Fetal Kidney	kidney
33	chr7:129141600-129143200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr7:129141600-129143200	Active TSS	A549	lung
35	chr7:129141600-129143400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr7:129141600-129143400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:129141800-129142200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:129141800-129142200	Active TSS	Colonic Mucosa	Colon
39	chr7:129141800-129142200	Enhancers	Lung	lung
40	chr7:129141800-129142200	Enhancers	Spleen	Spleen
41	chr7:129141800-129142400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:129141800-129142400	Enhancers	Liver	Liver
43	chr7:129141800-129142400	Active TSS	Gastric	stomach
44	chr7:129141800-129142400	Active TSS	HUVEC	blood vessel
45	chr7:129141800-129142600	Active TSS	Muscle Satellite Cultured Cells	--
46	chr7:129141800-129142600	Active TSS	Aorta	Aorta
47	chr7:129141800-129142600	Active TSS	Colon Smooth Muscle	Colon
48	chr7:129141800-129142600	Active TSS	Ovary	ovary
49	chr7:129141800-129142600	Active TSS	Placenta Amnion	Placenta Amnion
50	chr7:129141800-129142600	Active TSS	Psoas Muscle	Psoas

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