Variant report

Variant	rs56147268
Chromosome Location	chr8:1723896-1723897
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:1715615..1723539-chr8:1723885..1728177,9	MCF-7	breast:
2	chr8:1717744..1722491-chr8:1723636..1726849,4	MCF-7	breast:
3	chr8:1722706..1724431-chr8:1770529..1772406,2	K562	blood:
4	chr8:1716952..1719420-chr8:1723630..1725290,2	K562	blood:
5	chr8:1722780..1724453-chr8:1725815..1728009,2	K562	blood:

Variant related genes	Relation type
ENSG00000182372	Chromatin interaction
ENSG00000104728	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12546965	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55634012	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55742804	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55991725	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56198692	0.85[EUR][1000 genomes]
rs56298638	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv465275	chr8:1697086-1768004	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
18	nsv609529	chr8:1697086-1768004	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
19	nsv465276	chr8:1701432-1777571	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
20	nsv609530	chr8:1701432-1777571	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
21	nsv609531	chr8:1717036-1965389	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
22	nsv932825	chr8:1719042-1736355	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56147268	CLN8	cis	Esophagus Muscularis	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1713400-1727000	Weak transcription	NHDF-Ad	bronchial
2	chr8:1713400-1735800	Weak transcription	Fetal Brain Male	brain
3	chr8:1713600-1729600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:1714000-1728000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:1714000-1729800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:1714400-1729200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:1714800-1727000	Strong transcription	Fetal Intestine Small	intestine
8	chr8:1715400-1726800	Strong transcription	Fetal Stomach	stomach
9	chr8:1715400-1727800	Weak transcription	Small Intestine	intestine
10	chr8:1715400-1729200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr8:1715600-1725600	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr8:1716400-1726800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr8:1716600-1725200	Strong transcription	Duodenum Mucosa	Duodenum
14	chr8:1716600-1727000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr8:1717000-1724600	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr8:1717000-1724600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:1717400-1728400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:1717600-1724600	Strong transcription	HMEC	breast
19	chr8:1717600-1726400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:1717600-1731000	Weak transcription	Fetal Lung	lung
21	chr8:1717800-1724600	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:1717800-1725000	Weak transcription	HSMM	muscle
23	chr8:1717800-1725200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr8:1717800-1726200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:1717800-1726200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:1717800-1727800	Weak transcription	Stomach Mucosa	stomach
27	chr8:1718000-1726000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:1718000-1726600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:1718000-1727800	Weak transcription	Fetal Kidney	kidney
30	chr8:1718000-1728000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr8:1718000-1732400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:1718000-1732800	Weak transcription	Fetal Heart	heart
33	chr8:1718000-1736000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:1718200-1724000	Weak transcription	Brain Angular Gyrus	brain
35	chr8:1718400-1724000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:1718400-1725000	Strong transcription	Fetal Intestine Large	intestine
37	chr8:1718400-1733200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr8:1719000-1724400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr8:1719000-1725200	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:1719000-1725400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:1719000-1725600	Strong transcription	Esophagus	oesophagus
42	chr8:1719200-1724600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:1719200-1725200	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr8:1719200-1725200	Strong transcription	Fetal Brain Female	brain
45	chr8:1719200-1725200	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr8:1719200-1725200	Strong transcription	A549	lung
47	chr8:1719200-1725400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:1719400-1724800	Strong transcription	Fetal Muscle Trunk	muscle
49	chr8:1719400-1725400	Strong transcription	Adipose Nuclei	Adipose
50	chr8:1719800-1724000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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