Variant report

Variant	rs73348129
Chromosome Location	chr8:126121745-126121746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126102864..126104610-chr8:126121575..126124532,2	K562	blood:
2	chr8:126102968..126106954-chr8:126119806..126124843,7	MCF-7	breast:
3	chr8:126117610..126119168-chr8:126119754..126122274,2	MCF-7	breast:
4	chr8:126121150..126124061-chr8:126446457..126448780,3	K562	blood:
5	chr8:126111855..126116017-chr8:126120644..126122400,3	MCF-7	breast:
6	chr8:126112265..126115118-chr8:126118237..126122453,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164961	Chromatin interaction
ENSG00000156831	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10089670	1.00[AMR][1000 genomes]
rs10098756	1.00[AMR][1000 genomes]
rs10105404	1.00[AMR][1000 genomes]
rs10110582	1.00[AMR][1000 genomes]
rs10112396	1.00[AMR][1000 genomes]
rs10956228	1.00[AMR][1000 genomes]
rs11998170	1.00[AMR][1000 genomes]
rs12334394	1.00[AMR][1000 genomes]
rs16900255	1.00[AMR][1000 genomes]
rs16900296	1.00[AMR][1000 genomes]
rs2033133	1.00[AMR][1000 genomes]
rs2384877	1.00[AMR][1000 genomes]
rs28431278	1.00[AMR][1000 genomes]
rs28489728	1.00[AMR][1000 genomes]
rs28507055	1.00[AMR][1000 genomes]
rs28513909	1.00[AMR][1000 genomes]
rs28535453	0.84[AFR][1000 genomes]
rs4305918	1.00[AMR][1000 genomes]
rs73348132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348190	1.00[AMR][1000 genomes]
rs7814490	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv465803	chr8:126068197-126132816	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
6	nsv612148	chr8:126068197-126132816	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
8	nsv1022954	chr8:126117811-126180331	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	esv3363528	chr8:126121547-126122092	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126105000-126123200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:126105000-126123200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:126105000-126131400	Weak transcription	Fetal Kidney	kidney
4	chr8:126105200-126156400	Weak transcription	Fetal Brain Male	brain
5	chr8:126105400-126122200	Weak transcription	NHDF-Ad	bronchial
6	chr8:126105400-126123200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:126105400-126131200	Weak transcription	Fetal Heart	heart
8	chr8:126105600-126122600	Weak transcription	Stomach Mucosa	stomach
9	chr8:126108600-126122200	Weak transcription	NHEK	skin
10	chr8:126113600-126123600	Strong transcription	Fetal Thymus	thymus
11	chr8:126114200-126123000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr8:126114200-126123600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:126114400-126122000	Strong transcription	Dnd41	blood
14	chr8:126114400-126124200	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr8:126115800-126122600	Weak transcription	NH-A	brain
16	chr8:126116800-126122600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:126117000-126122800	Weak transcription	HSMM	muscle
18	chr8:126117200-126122200	Weak transcription	NHLF	lung
19	chr8:126117200-126122600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:126117200-126123200	Weak transcription	Brain Angular Gyrus	brain
21	chr8:126117200-126131000	Weak transcription	Colonic Mucosa	Colon
22	chr8:126117200-126137800	Weak transcription	Esophagus	oesophagus
23	chr8:126117400-126122600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:126117400-126122600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:126117400-126122800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:126117400-126123200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr8:126117400-126131200	Weak transcription	Brain Germinal Matrix	brain
28	chr8:126117400-126131200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:126117400-126132800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:126117400-126132800	Weak transcription	Left Ventricle	heart
31	chr8:126117400-126137600	Weak transcription	Spleen	Spleen
32	chr8:126117400-126137800	Weak transcription	Aorta	Aorta
33	chr8:126117400-126137800	Weak transcription	Pancreas	Pancrea
34	chr8:126117400-126138400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:126117400-126140400	Weak transcription	Right Ventricle	heart
36	chr8:126117600-126122200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:126117600-126122400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:126117600-126122600	Weak transcription	K562	blood
39	chr8:126117600-126122800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:126117600-126123200	Weak transcription	Brain Substantia Nigra	brain
41	chr8:126117600-126123200	Weak transcription	Small Intestine	intestine
42	chr8:126117600-126125800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:126117600-126130800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr8:126117600-126132800	Weak transcription	Ovary	ovary
45	chr8:126117600-126132800	Weak transcription	Psoas Muscle	Psoas
46	chr8:126117600-126157400	Weak transcription	Fetal Brain Female	brain
47	chr8:126117800-126122400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr8:126117800-126122400	Weak transcription	A549	lung
49	chr8:126117800-126137200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr8:126117800-126160400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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