Variant report

Variant	rs73672957
Chromosome Location	chr8:1693345-1693346
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:1692503..1695228-chr8:1698804..1700487,2	K562	blood:
2	chr8:1690345..1695334-chr8:1710001..1714375,16	MCF-7	breast:
3	chr8:1686398..1691493-chr8:1692732..1695929,5	MCF-7	breast:
4	chr8:1688805..1690612-chr8:1693113..1695827,3	K562	blood:
5	chr8:1692125..1694169-chr8:1767018..1769382,2	MCF-7	breast:
6	chr8:1682754..1684809-chr8:1691291..1693773,2	MCF-7	breast:
7	chr8:1692732..1694940-chr8:1731254..1732794,2	MCF-7	breast:
8	chr8:1690830..1693396-chr8:1731671..1734648,2	K562	blood:
9	chr8:1692017..1693877-chr8:1696631..1699350,2	MCF-7	breast:
10	chr8:1691117..1696538-chr8:1710667..1714961,13	MCF-7	breast:
11	chr8:1693010..1695707-chr8:1719687..1722075,2	MCF-7	breast:
12	chr8:1691840..1698609-chr8:1701330..1706354,17	MCF-7	breast:
13	chr8:1691178..1695166-chr8:1727484..1730315,3	MCF-7	breast:
14	chr8:1692167..1695898-chr8:1702417..1705508,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182372	Chromatin interaction
ENSG00000253982	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12548985	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs41435746	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55736608	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55868652	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7005428	0.84[AMR][1000 genomes]
rs73534940	0.95[EUR][1000 genomes]
rs73536832	0.89[AMR][1000 genomes]
rs73672954	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73672956	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7842741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889697	chr8:1238564-1861971	Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1031375	chr8:1320657-1722050	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv889707	chr8:1581839-1920461	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv889711	chr8:1591412-1904157	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv934075	chr8:1626857-1736355	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1034490	chr8:1654716-1782467	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
12	nsv609527	chr8:1681733-1753497	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
13	nsv870096	chr8:1682851-1767342	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
14	nsv465274	chr8:1685064-1728292	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv609528	chr8:1685064-1728292	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv532892	chr8:1687433-1839578	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
17	esv2755149	chr8:1689290-1755281	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1691600-1693400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:1692000-1694000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr8:1692000-1694000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:1692000-1694200	Enhancers	Esophagus	oesophagus
5	chr8:1692000-1694800	Enhancers	Spleen	Spleen
6	chr8:1692200-1694800	Enhancers	Placenta	Placenta
7	chr8:1692200-1695400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr8:1692200-1695600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:1692200-1696200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:1692200-1696400	Enhancers	Primary B cells from peripheral blood	blood
11	chr8:1692400-1693400	Enhancers	Duodenum Mucosa	Duodenum
12	chr8:1692400-1693600	Enhancers	Gastric	stomach
13	chr8:1692400-1693800	Enhancers	Primary B cells from cord blood	blood
14	chr8:1692400-1694600	Enhancers	Brain Substantia Nigra	brain
15	chr8:1692400-1694800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr8:1692400-1694800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr8:1692400-1695000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:1692400-1695200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:1692400-1695200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr8:1692400-1695400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:1692400-1695400	Enhancers	Stomach Mucosa	stomach
22	chr8:1692600-1693400	Weak transcription	Brain Anterior Caudate	brain
23	chr8:1692600-1693400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr8:1692600-1693800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:1692600-1693800	Weak transcription	Right Atrium	heart
26	chr8:1692600-1695600	Enhancers	Primary hematopoietic stem cells	blood
27	chr8:1692600-1707400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:1692800-1693400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:1692800-1693600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:1692800-1693800	Weak transcription	Adipose Nuclei	Adipose
31	chr8:1692800-1693800	Weak transcription	Lung	lung
32	chr8:1692800-1693800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:1692800-1693800	Enhancers	HepG2	liver
34	chr8:1693000-1693400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr8:1693000-1693600	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr8:1693000-1693600	Enhancers	NHDF-Ad	bronchial
37	chr8:1693000-1694800	Enhancers	H9 Cell Line	embryonic stem cell
38	chr8:1693000-1695400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:1693000-1695600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:1693200-1693400	Enhancers	A549	lung
41	chr8:1693200-1693400	Flanking Active TSS	NHLF	lung
42	chr8:1693200-1693600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:1693200-1693800	Enhancers	Primary T cells fromperipheralblood	blood
44	chr8:1693200-1693800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr8:1693200-1693800	Enhancers	Colonic Mucosa	Colon
46	chr8:1693200-1693800	Enhancers	Hela-S3	cervix
47	chr8:1693200-1693800	Enhancers	HSMM	muscle
48	chr8:1693200-1693800	Enhancers	HSMMtube	muscle
49	chr8:1693200-1694000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:1693200-1694000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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