Variant report

Variant	rs6990879
Chromosome Location	chr8:125854000-125854001
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125851467..125856602-chr8:125857773..125861438,7	K562	blood:
2	chr8:125846878..125850160-chr8:125852812..125855632,3	K562	blood:
3	chr8:125853391..125856222-chr8:126009694..126012637,3	K562	blood:
4	chr8:125848148..125849956-chr8:125851282..125854151,2	MCF-7	breast:
5	chr8:125853883..125856241-chr8:125859514..125861626,2	MCF-7	breast:
6	chr8:125808427..125810634-chr8:125852505..125855502,2	MCF-7	breast:
7	chr8:125595344..125598229-chr8:125853392..125854914,2	MCF-7	breast:
8	chr8:125853231..125854920-chr8:125856486..125859426,2	MCF-7	breast:
9	chr8:125826627..125828978-chr8:125852781..125856701,4	K562	blood:
10	chr8:125853620..125856478-chr8:125964634..125966898,2	K562	blood:
11	chr8:125825806..125828184-chr8:125852978..125854906,3	K562	blood:
12	chr8:125824069..125826348-chr8:125852488..125855335,2	K562	blood:
13	chr8:125825562..125827857-chr8:125852824..125856863,3	MCF-7	breast:
14	chr8:125739489..125742023-chr8:125852988..125855710,2	MCF-7	breast:
15	chr8:125853439..125856627-chr8:125858052..125861579,6	K562	blood:
16	chr8:125853970..125858495-chr8:125864052..125870691,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104549	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000255080	Chromatin interaction
ENSG00000253513	Chromatin interaction
ENSG00000249816	Chromatin interaction
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12681718	0.95[YRI][hapmap]
rs13269995	0.81[AFR][1000 genomes]
rs4870929	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs4870930	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs4871557	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs4871561	1.00[YRI][hapmap]
rs6470291	0.84[AFR][1000 genomes]
rs6470293	0.85[YRI][hapmap]
rs7463657	0.84[AFR][1000 genomes]
rs7464187	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs9987227	1.00[YRI][hapmap];0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125847200-125854800	Weak transcription	Esophagus	oesophagus
2	chr8:125847200-125855400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:125847400-125854000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:125847400-125854600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:125847400-125854600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:125847400-125855000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:125847400-125860600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:125848400-125854800	Weak transcription	Pancreas	Pancrea
9	chr8:125851600-125854600	Weak transcription	Brain Anterior Caudate	brain
10	chr8:125851600-125854600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:125851800-125854400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:125851800-125854600	Weak transcription	Brain Angular Gyrus	brain
13	chr8:125852200-125856400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:125852400-125854000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:125852400-125854200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:125852400-125854200	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:125852400-125854600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:125852400-125854800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:125852600-125854000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:125852600-125857000	Enhancers	Right Atrium	heart
21	chr8:125852800-125854000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:125852800-125854400	Weak transcription	Fetal Brain Male	brain
23	chr8:125852800-125854600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:125853000-125854000	Weak transcription	Left Ventricle	heart
25	chr8:125853000-125854000	Weak transcription	Right Ventricle	heart
26	chr8:125853000-125854000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:125853000-125854000	Weak transcription	Spleen	Spleen
28	chr8:125853000-125854600	Weak transcription	HepG2	liver
29	chr8:125853000-125854800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:125853000-125854800	Weak transcription	Psoas Muscle	Psoas
31	chr8:125853000-125855000	Weak transcription	Brain Germinal Matrix	brain
32	chr8:125853200-125854400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:125853200-125854800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:125853600-125854200	Enhancers	Fetal Heart	heart
35	chr8:125853600-125855000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:125853600-125856800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:125853600-125856800	Enhancers	Placenta	Placenta
38	chr8:125853600-125857000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr8:125853800-125854800	Enhancers	Adipose Nuclei	Adipose
40	chr8:125853800-125854800	Enhancers	K562	blood
41	chr8:125853800-125855400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:125853800-125855400	Enhancers	NHEK	skin
43	chr8:125853800-125855600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:125853800-125855800	Enhancers	HMEC	breast
45	chr8:125853800-125856400	Enhancers	Fetal Muscle Leg	muscle
46	chr8:125853800-125856800	Enhancers	Ovary	ovary
47	chr8:125854000-125854200	Enhancers	Right Ventricle	heart
48	chr8:125854000-125854800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr8:125854000-125855400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:125854000-125855600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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