Variant report

Variant	rs55759812
Chromosome Location	chr8:125477071-125477072
allele	A/C
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:4)
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	chr8:125476415..125477216-chr8:125503251..125504111,2	MCF-7	breast:
2	chr8:125476504..125477354-chr8:125503331..125504125,2	MCF-7	breast:
3	chr8:125462932..125466736-chr8:125475964..125478652,6	MCF-7	breast:
4	chr8:125476415..125477216-chr8:125503251..125504111,3	MCF-7	breast:
5	chr8:125473161..125475978-chr8:125476087..125479372,4	K562	blood:
6	chr8:125463054..125465256-chr8:125476799..125479524,2	K562	blood:
7	chr8:125470564..125475978-chr8:125476516..125479372,6	K562	blood:
8	chr8:124575822..124576635-chr8:125476420..125477334,2	MCF-7	breast:
9	chr8:125476479..125477099-chr8:125550802..125551586,2	MCF-7	breast:
10	chr8:125475979..125479688-chr8:125483655..125487950,7	K562	blood:
11	chr8:125476818..125478783-chr8:125536249..125538761,2	MCF-7	breast:
12	chr8:125461213..125466499-chr8:125476927..125481847,6	K562	blood:
13	chr8:125462355..125463185-chr8:125476719..125477309,2	MCF-7	breast:
14	chr8:125475022..125477370-chr8:125550030..125552763,3	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TATDN1-1	chr8:125474740-125479899	XLOC_007206
2	lnc-TATDN1-1	chr8:125474726-125479899	ENSG00000245149
3	lnc-TATDN1-1	chr8:125477041-125477893	NONHSAT128584
4	lnc-TATDN1-1	chr8:125474738-125479899	NR_108047

No data

Variant related genes	Relation type
ENSG00000170881	Chromatin interaction
ENSG00000183665	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000147684	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11542673	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11986208	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16899649	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16899653	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3829038	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4301437	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4870899	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4870902	0.92[EUR][1000 genomes]
rs4871493	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4871496	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4871497	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55872747	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55946925	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56158167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56291877	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67764028	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713064	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72713066	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72713068	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713072	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713074	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713078	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72713081	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713082	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713088	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713090	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72713094	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72713101	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72714703	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72714704	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72714706	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72714707	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72714712	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription 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 target site	27 gene(s)	inside rSNPs	diseases
3	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS 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 miRNA target site	84 gene(s)	inside rSNPs	diseases
4	nsv891430	chr8:125431030-125485027	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1017848	chr8:125432689-125489052	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv891431	chr8:125437811-125485027	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv891432	chr8:125438093-125485027	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv891433	chr8:125438093-125498547	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125463800-125483800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:125464000-125484800	Weak transcription	Aorta	Aorta
3	chr8:125464000-125485000	Weak transcription	Fetal Kidney	kidney
4	chr8:125464400-125479600	Weak transcription	Fetal Intestine Large	intestine
5	chr8:125464600-125477600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:125464600-125478000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:125464600-125478600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:125464600-125483200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:125464600-125484600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:125464600-125485200	Weak transcription	Colonic Mucosa	Colon
11	chr8:125464600-125485800	Weak transcription	Esophagus	oesophagus
12	chr8:125464600-125486000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:125464800-125478400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr8:125464800-125478600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr8:125464800-125484600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:125464800-125484800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:125464800-125485400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:125465000-125477600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:125465000-125477800	Weak transcription	NH-A	brain
20	chr8:125465000-125478600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:125465000-125479000	Weak transcription	HUVEC	blood vessel
22	chr8:125465000-125484400	Weak transcription	NHLF	lung
23	chr8:125465000-125485400	Weak transcription	Gastric	stomach
24	chr8:125465200-125477600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:125465200-125477600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:125465200-125483000	Weak transcription	Fetal Brain Male	brain
27	chr8:125465200-125483200	Weak transcription	Fetal Lung	lung
28	chr8:125465400-125478400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:125465600-125478600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:125465600-125482800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:125465600-125484200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:125465600-125484600	Weak transcription	HMEC	breast
33	chr8:125465600-125485200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:125466000-125485400	Weak transcription	Lung	lung
35	chr8:125466200-125477400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:125466200-125484600	Weak transcription	Right Ventricle	heart
37	chr8:125466400-125478600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:125466400-125478600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr8:125466400-125482800	Weak transcription	NHDF-Ad	bronchial
40	chr8:125466400-125483000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr8:125466400-125483000	Weak transcription	Brain Anterior Caudate	brain
42	chr8:125466400-125483200	Weak transcription	Spleen	Spleen
43	chr8:125466400-125484000	Weak transcription	Ovary	ovary
44	chr8:125466400-125484600	Weak transcription	A549	lung
45	chr8:125466400-125484800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:125466400-125484800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:125466600-125478600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:125466600-125478600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr8:125466600-125484000	Weak transcription	Fetal Muscle Leg	muscle
50	chr8:125466800-125482800	Weak transcription	Colon Smooth Muscle	Colon

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