Variant report

Variant	rs73348132
Chromosome Location	chr8:126123694-126123695
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

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	chr8:126121970..126124659-chr8:126146296..126148884,2	K562	blood:
4	chr8:126089121..126090954-chr8:126122040..126124119,2	K562	blood:
5	chr8:126121150..126124061-chr8:126446457..126448780,3	K562	blood:
6	chr8:126123096..126125735-chr8:126439490..126442539,3	MCF-7	breast:
7	chr8:126122099..126124809-chr8:126126071..126128199,2	MCF-7	breast:
8	chr8:126123285..126125941-chr8:126128325..126132031,4	MCF-7	breast:
9	chr8:126122076..126124828-chr8:126440286..126443846,3	MCF-7	breast:
10	chr8:126123365..126125128-chr8:126444411..126446819,2	MCF-7	breast:
11	chr8:126109384..126111604-chr8:126122578..126124828,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000164961	Chromatin interaction

Extended variants
information (count: 29 )
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]
rs73348129	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:8 , 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

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126105000-126131400	Weak transcription	Fetal Kidney	kidney
2	chr8:126105200-126156400	Weak transcription	Fetal Brain Male	brain
3	chr8:126105400-126131200	Weak transcription	Fetal Heart	heart
4	chr8:126114400-126124200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr8:126117200-126131000	Weak transcription	Colonic Mucosa	Colon
6	chr8:126117200-126137800	Weak transcription	Esophagus	oesophagus
7	chr8:126117400-126131200	Weak transcription	Brain Germinal Matrix	brain
8	chr8:126117400-126131200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:126117400-126132800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:126117400-126132800	Weak transcription	Left Ventricle	heart
11	chr8:126117400-126137600	Weak transcription	Spleen	Spleen
12	chr8:126117400-126137800	Weak transcription	Aorta	Aorta
13	chr8:126117400-126137800	Weak transcription	Pancreas	Pancrea
14	chr8:126117400-126138400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:126117400-126140400	Weak transcription	Right Ventricle	heart
16	chr8:126117600-126125800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:126117600-126130800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:126117600-126132800	Weak transcription	Ovary	ovary
19	chr8:126117600-126132800	Weak transcription	Psoas Muscle	Psoas
20	chr8:126117600-126157400	Weak transcription	Fetal Brain Female	brain
21	chr8:126117800-126137200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr8:126117800-126160400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:126118000-126131000	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:126118000-126132800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:126118000-126137400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr8:126118000-126191800	Weak transcription	Thymus	Thymus
27	chr8:126118400-126127800	Weak transcription	Lung	lung
28	chr8:126118400-126131200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:126118400-126131200	Weak transcription	Adipose Nuclei	Adipose
30	chr8:126118400-126131200	Weak transcription	HSMMtube	muscle
31	chr8:126118400-126137400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:126118400-126153600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr8:126118600-126130600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:126119200-126132600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:126119800-126127400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:126120000-126127400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:126120200-126132800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:126120200-126136800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr8:126120400-126131200	Weak transcription	Fetal Intestine Small	intestine
40	chr8:126120400-126136800	Weak transcription	Placenta	Placenta
41	chr8:126120600-126126800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr8:126120600-126130800	Weak transcription	Fetal Intestine Large	intestine
43	chr8:126120600-126131000	Weak transcription	Fetal Lung	lung
44	chr8:126120600-126131200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:126120600-126156400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:126120800-126136800	Weak transcription	Fetal Stomach	stomach
47	chr8:126120800-126137200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:126120800-126137400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr8:126121000-126126600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr8:126121000-126131000	Weak transcription	Duodenum Mucosa	Duodenum

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