Variant report

Variant	rs73704509
Chromosome Location	chr8:126017049-126017050
allele	C/T
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125826305..125827862-chr8:126015361..126017924,2	K562	blood:
2	chr8:126016193..126019886-chr8:126029676..126033691,5	MCF-7	breast:
3	chr8:126009262..126012562-chr8:126016930..126019833,4	K562	blood:
4	chr8:126016981..126020286-chr8:126022949..126025104,4	MCF-7	breast:
5	chr8:126016227..126018490-chr8:126018578..126021256,2	MCF-7	breast:
6	chr8:126013869..126016099-chr8:126016207..126018395,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0196-5	chr8:126016582-126018223	l_3677_chr8:126016111-126021316_testes

No data

Variant related genes	Relation type
ENSG00000253513	Chromatin interaction
ENSG00000104549	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10481077	0.80[AFR][1000 genomes]
rs10481078	0.80[AFR][1000 genomes]
rs28828449	0.80[AFR][1000 genomes]
rs58355476	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7012867	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7012918	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704504	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704506	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704507	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706181	0.80[AFR][1000 genomes]
rs73706184	0.80[AFR][1000 genomes]
rs73706190	0.80[AFR][1000 genomes]
rs9297705	0.80[AFR][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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126011800-126034000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr8:126012400-126029200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:126012600-126017400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr8:126012600-126017600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:126012600-126017800	Weak transcription	Psoas Muscle	Psoas
6	chr8:126012600-126019800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:126012600-126020400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:126012600-126020400	Weak transcription	Left Ventricle	heart
9	chr8:126012600-126027000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:126012600-126029000	Weak transcription	Colonic Mucosa	Colon
11	chr8:126013200-126018000	Transcr. at gene 5' and 3'	Dnd41	blood
12	chr8:126013200-126019600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr8:126013200-126024200	Weak transcription	Gastric	stomach
14	chr8:126013200-126028200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:126013200-126029200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:126013400-126017600	Weak transcription	Adipose Nuclei	Adipose
17	chr8:126013400-126017800	Weak transcription	Fetal Intestine Large	intestine
18	chr8:126013400-126029200	Weak transcription	Lung	lung
19	chr8:126013400-126029200	Weak transcription	Spleen	Spleen
20	chr8:126013400-126029400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:126013400-126040400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr8:126013400-126042600	Weak transcription	Right Ventricle	heart
23	chr8:126013600-126018000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:126013600-126019600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr8:126013600-126020800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:126013600-126024000	Weak transcription	Fetal Kidney	kidney
27	chr8:126013600-126024200	Weak transcription	Primary T cells from cord blood	blood
28	chr8:126013600-126028800	Weak transcription	Thymus	Thymus
29	chr8:126013600-126052200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr8:126013800-126019600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr8:126013800-126019600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr8:126013800-126020800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:126013800-126024000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr8:126013800-126024200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:126013800-126024200	Weak transcription	Esophagus	oesophagus
36	chr8:126013800-126029000	Weak transcription	Ovary	ovary
37	chr8:126014000-126020800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr8:126014200-126017600	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:126014200-126019800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr8:126014200-126026200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:126014200-126029200	Weak transcription	Fetal Intestine Small	intestine
42	chr8:126014400-126017600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:126014400-126017800	Enhancers	Fetal Brain Male	brain
44	chr8:126014400-126018200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr8:126014400-126020400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:126014400-126024000	Weak transcription	Fetal Heart	heart
47	chr8:126014400-126027000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr8:126014400-126029000	Weak transcription	Aorta	Aorta
49	chr8:126014400-126029000	Weak transcription	Fetal Stomach	stomach
50	chr8:126014400-126029200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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