Variant report

Variant	rs4242313
Chromosome Location	chr8:121408944-121408945
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121407423..121410250-chr8:121415555..121418365,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10098436	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10109431	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10955971	0.89[ASN][1000 genomes]
rs1129080	0.91[ASN][1000 genomes]
rs1129353	0.91[ASN][1000 genomes]
rs11780830	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11781786	0.94[ASN][1000 genomes]
rs12545308	0.91[ASN][1000 genomes]
rs12546007	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12674727	0.91[ASN][1000 genomes]
rs12675235	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12676755	0.88[ASN][1000 genomes]
rs12678531	0.92[ASN][1000 genomes]
rs12678788	0.94[ASN][1000 genomes]
rs12680641	0.88[ASN][1000 genomes]
rs13252173	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13263962	0.96[ASN][1000 genomes]
rs16893976	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2429	0.91[ASN][1000 genomes]
rs4448321	0.93[ASN][1000 genomes]
rs4452825	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4463470	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4565499	0.92[ASN][1000 genomes]
rs4573322	0.93[ASN][1000 genomes]
rs4590476	0.91[ASN][1000 genomes]
rs4871067	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61203971	0.94[ASN][1000 genomes]
rs6415474	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6469920	0.89[ASN][1000 genomes]
rs6469921	0.89[ASN][1000 genomes]
rs6984090	0.94[ASN][1000 genomes]
rs6985660	0.94[ASN][1000 genomes]
rs7002445	0.94[ASN][1000 genomes]
rs7015443	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73315165	0.94[ASN][1000 genomes]
rs73315171	0.94[ASN][1000 genomes]
rs73315174	0.92[ASN][1000 genomes]
rs73315182	0.92[ASN][1000 genomes]
rs7812590	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7814949	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7818026	0.96[ASN][1000 genomes]
rs7819405	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7826906	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7832933	0.90[ASN][1000 genomes]
rs7834496	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7835198	0.91[ASN][1000 genomes]
rs7835363	0.91[ASN][1000 genomes]
rs9297619	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9650081	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121396800-121416800	Weak transcription	Aorta	Aorta
2	chr8:121401200-121410000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:121401400-121410400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:121402000-121456400	Weak transcription	Small Intestine	intestine
5	chr8:121402200-121415600	Weak transcription	Esophagus	oesophagus
6	chr8:121402200-121416200	Weak transcription	Stomach Mucosa	stomach
7	chr8:121402400-121409200	Weak transcription	Right Ventricle	heart
8	chr8:121402400-121409600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:121402400-121409600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:121402800-121410000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:121403200-121412000	Strong transcription	Primary T cells from cord blood	blood
12	chr8:121403600-121409600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:121403600-121410800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:121403600-121412400	Weak transcription	Fetal Brain Male	brain
15	chr8:121403800-121410000	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:121404000-121433400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:121404200-121409400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:121404200-121411000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr8:121404400-121409200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:121404400-121409200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:121404400-121409200	Weak transcription	Fetal Stomach	stomach
22	chr8:121404400-121409200	Weak transcription	Pancreas	Pancrea
23	chr8:121404400-121409200	Weak transcription	Spleen	Spleen
24	chr8:121404400-121409600	Weak transcription	HMEC	breast
25	chr8:121404400-121421400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:121404400-121454400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr8:121404600-121411000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:121404600-121456000	Weak transcription	Colonic Mucosa	Colon
29	chr8:121404800-121410800	Strong transcription	Liver	Liver
30	chr8:121404800-121416600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:121405000-121409000	Weak transcription	Osteobl	bone
32	chr8:121405000-121409200	Weak transcription	Fetal Intestine Small	intestine
33	chr8:121405000-121411800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr8:121405000-121456000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:121405200-121409000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:121405200-121409600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:121405200-121409800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:121405200-121410200	Weak transcription	Fetal Brain Female	brain
39	chr8:121405200-121410600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr8:121405200-121411800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:121405200-121414400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr8:121405400-121409800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr8:121405400-121410800	Strong transcription	Adipose Nuclei	Adipose
44	chr8:121405400-121411000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:121405600-121410400	Strong transcription	Primary hematopoietic stem cells	blood
46	chr8:121405600-121411200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:121405600-121455600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:121405800-121410200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:121405800-121411000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:121405800-121411200	Strong transcription	Primary B cells from peripheral blood	blood

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