Variant report

Variant	rs58689624
Chromosome Location	chr7:40169183-40169184
allele	A/C
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	POLR2A	chr7:40168616-40174782	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:40169087-40169332	K562	blood:	n/a	n/a
3	POLR2A	chr7:40169090-40169227	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:40168587-40171157	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr7:40168979-40169842	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr7:40168497-40173052	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:40167264..40171884-chr7:40172209..40175327,5	K562	blood:
2	chr7:39874655..39876948-chr7:40167976..40170537,2	MCF-7	breast:
3	chr7:40167562..40171134-chr7:40171634..40175290,4	MCF-7	breast:
4	chr7:40117676..40119529-chr7:40167964..40170464,2	K562	blood:

Variant related genes	Relation type
ENSG00000199273	TF binding region
ENSG00000175600	Chromatin interaction
ENSG00000065883	Chromatin interaction
ENSG00000168303	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11972941	0.86[AFR][1000 genomes]
rs12146	0.85[AFR][1000 genomes]
rs17538048	1.00[AMR][1000 genomes]
rs17538069	1.00[AMR][1000 genomes]
rs60667077	0.87[AFR][1000 genomes]
rs6945205	0.85[AFR][1000 genomes]
rs73312916	0.80[AFR][1000 genomes]
rs73312925	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756801	chr7:40060180-40269583	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2759525	chr7:40060180-40269583	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv887979	chr7:40067021-40193535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv887980	chr7:40067021-40203356	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv887981	chr7:40075461-40203356	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv971193	chr7:40075881-40197955	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	esv34547	chr7:40077032-40230965	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv824080	chr7:40077089-40198644	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv464437	chr7:40094641-40197168	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv606709	chr7:40094641-40197168	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv1032278	chr7:40097371-40396300	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv887982	chr7:40098787-40193535	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv1024735	chr7:40149227-40203356	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40134600-40171800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:40134600-40173200	Weak transcription	Lung	lung
3	chr7:40135000-40172800	Weak transcription	Fetal Kidney	kidney
4	chr7:40135200-40171000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:40135200-40171400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:40135600-40173000	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:40136000-40172200	Weak transcription	Osteobl	bone
8	chr7:40136200-40171800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:40136600-40173200	Weak transcription	Placenta	Placenta
10	chr7:40137400-40172000	Weak transcription	Fetal Lung	lung
11	chr7:40137600-40170600	Weak transcription	Dnd41	blood
12	chr7:40137600-40171800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:40137600-40172200	Weak transcription	A549	lung
14	chr7:40137800-40170200	Weak transcription	HSMM	muscle
15	chr7:40137800-40171800	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:40148400-40169400	Weak transcription	Primary T cells from cord blood	blood
17	chr7:40152400-40171800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:40152600-40171200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:40152600-40171600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:40152600-40171600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:40152600-40172800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:40157400-40171600	Weak transcription	NH-A	brain
23	chr7:40157400-40171800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:40157400-40171800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:40157400-40172600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:40157400-40172600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:40157600-40169600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:40158400-40171800	Weak transcription	Thymus	Thymus
29	chr7:40160200-40171600	Weak transcription	Fetal Heart	heart
30	chr7:40160200-40172000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr7:40160200-40172200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:40161000-40170600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr7:40161200-40171000	Weak transcription	Right Ventricle	heart
34	chr7:40161600-40172600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr7:40161600-40172600	Weak transcription	Aorta	Aorta
36	chr7:40162000-40172600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr7:40162200-40171000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:40162400-40169400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:40162800-40171200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:40162800-40171200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:40162800-40171800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr7:40163000-40173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:40163400-40170600	Weak transcription	HepG2	liver
44	chr7:40163600-40169200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr7:40163600-40171200	Weak transcription	K562	blood
46	chr7:40164400-40172000	Weak transcription	NHEK	skin
47	chr7:40164600-40172600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr7:40164800-40172600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:40165400-40171200	Weak transcription	Ovary	ovary
50	chr7:40165400-40172800	Weak transcription	H1 Cell Line	embryonic stem cell

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