Variant report

Variant	rs28643423
Chromosome Location	chr8:92110498-92110499
allele	A/G
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	chr8:92110000-92110655	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:92107839..92110534-chr8:92110820..92113788,2	MCF-7	breast:

Variant related genes	Relation type
LRRC69	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10086690	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10087080	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10087372	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10088008	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10091010	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10091041	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10091616	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10093640	0.83[ASN][1000 genomes]
rs10094031	0.83[ASN][1000 genomes]
rs10094656	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10097509	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10102397	0.93[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10104912	0.83[ASN][1000 genomes]
rs10105201	0.83[ASN][1000 genomes]
rs10109015	0.83[ASN][1000 genomes]
rs10110426	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10113205	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10113232	0.83[ASN][1000 genomes]
rs10113460	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10441532	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13439536	0.83[ASN][1000 genomes]
rs28398373	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28413906	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28514810	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28552946	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28667143	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28709398	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28710246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3210518	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808377	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56978897	0.83[ASN][1000 genomes]
rs57438891	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs57609704	1.00[EUR][1000 genomes]
rs58052832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61179686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62526706	0.83[ASN][1000 genomes]
rs62526711	0.83[ASN][1000 genomes]
rs7005525	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7007552	0.83[ASN][1000 genomes]
rs7009676	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription 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 miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831390	chr8:92037011-92198605	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv611721	chr8:92107070-92183658	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr8:92083000-92147800	Weak transcription	Spleen	Spleen
2	chr8:92083200-92113200	Weak transcription	Esophagus	oesophagus
3	chr8:92083400-92124400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:92083600-92112000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:92083600-92113000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:92083600-92114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:92083600-92150800	Weak transcription	Pancreas	Pancrea
8	chr8:92084000-92124600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:92084200-92111400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:92085000-92125800	Weak transcription	Small Intestine	intestine
11	chr8:92088000-92111600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:92091200-92133800	Weak transcription	NHLF	lung
13	chr8:92091800-92137800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:92092600-92111000	Weak transcription	HepG2	liver
15	chr8:92092600-92116800	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:92092600-92147800	Weak transcription	Right Ventricle	heart
17	chr8:92092800-92111400	Weak transcription	Brain Substantia Nigra	brain
18	chr8:92092800-92124400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:92094200-92125200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr8:92095200-92124400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:92095200-92130800	Weak transcription	HSMMtube	muscle
22	chr8:92095800-92126600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr8:92096800-92135000	Weak transcription	Hela-S3	cervix
24	chr8:92097200-92127000	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:92097400-92126400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr8:92097400-92130800	Weak transcription	Osteobl	bone
27	chr8:92097400-92146200	Weak transcription	Psoas Muscle	Psoas
28	chr8:92098000-92111200	Weak transcription	Brain Germinal Matrix	brain
29	chr8:92098200-92124600	Weak transcription	HUVEC	blood vessel
30	chr8:92098600-92122800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:92100000-92111200	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr8:92100400-92112200	Weak transcription	Stomach Mucosa	stomach
33	chr8:92100400-92115000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:92100800-92130800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr8:92101400-92118800	Weak transcription	Fetal Brain Female	brain
36	chr8:92102600-92111400	Weak transcription	Fetal Lung	lung
37	chr8:92102600-92114800	Weak transcription	NH-A	brain
38	chr8:92104000-92111600	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:92104400-92117800	Weak transcription	Brain Angular Gyrus	brain
40	chr8:92104400-92124400	Weak transcription	Gastric	stomach
41	chr8:92104600-92114800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:92104600-92116800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:92104600-92117000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:92104600-92126000	Weak transcription	Fetal Intestine Large	intestine
45	chr8:92104600-92129600	Weak transcription	Brain Anterior Caudate	brain
46	chr8:92104800-92111200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:92104800-92112200	Weak transcription	Colonic Mucosa	Colon
48	chr8:92104800-92115000	Weak transcription	Aorta	Aorta
49	chr8:92104800-92124400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr8:92104800-92124400	Weak transcription	Ovary	ovary

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