Variant report

Variant	rs10102290
Chromosome Location	chr8:122650838-122650839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:122649915-122654889	IMR90	lung:	n/a	n/a
2	MXI1	chr8:122650825-122653329	SK-N-SH	brain:	n/a	chr8:122651550-122651559 chr8:122651552-122651561
3	STAT3	chr8:122650312-122651240	MCF10A-Er-Src	breast:	n/a	chr8:122651170-122651177 chr8:122650540-122650549 chr8:122650539-122650550 chr8:122650541-122650550
4	STAT3	chr8:122650354-122651051	MCF10A-Er-Src	breast:	n/a	chr8:122650540-122650549 chr8:122650539-122650550 chr8:122650541-122650550
5	POLR2A	chr8:122645249-122654754	ProgFib	skin:	n/a	n/a
6	CHD1	chr8:122649945-122655092	IMR90	lung:	n/a	chr8:122654612-122654622 chr8:122651511-122651521

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:122649542..122651983-chr8:122652240..122655106,2	MCF-7	breast:

Variant related genes	Relation type
HAS2-AS1	TF binding region
ENSG00000248690	Chromatin interaction
ENSG00000170961	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10086278	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10094125	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10097083	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10112917	0.94[ASN][1000 genomes]
rs11784137	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1871884	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1987444	0.94[ASN][1000 genomes]
rs2385924	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28583171	0.94[ASN][1000 genomes]
rs28613240	0.81[ASN][1000 genomes]
rs28778395	0.90[ASN][1000 genomes]
rs4437656	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4871210	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61488251	0.91[ASN][1000 genomes]
rs62524935	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62524936	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62526466	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62526467	0.94[ASN][1000 genomes]
rs6651224	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6984839	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7000634	0.92[ASN][1000 genomes]
rs7009945	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7817920	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7821080	0.83[ASN][1000 genomes]
rs7834455	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7834907	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7837322	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033501	chr8:122436332-122758651	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831446	chr8:122535039-122711959	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122639200-122651400	Weak transcription	Brain Anterior Caudate	brain
2	chr8:122644000-122651400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:122644400-122651200	Weak transcription	Brain Substantia Nigra	brain
4	chr8:122644400-122651400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:122644600-122651200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:122644600-122651200	Weak transcription	HSMMtube	muscle
7	chr8:122645200-122651200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:122646400-122651800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr8:122648800-122651200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:122648800-122655000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:122649200-122654800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:122649800-122651000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr8:122649800-122651400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:122649800-122651400	Active TSS	Duodenum Mucosa	Duodenum
15	chr8:122649800-122651400	Transcr. at gene 5' and 3'	HSMM	muscle
16	chr8:122649800-122651400	Transcr. at gene 5' and 3'	Osteobl	bone
17	chr8:122649800-122654000	Active TSS	NH-A	brain
18	chr8:122649800-122655200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr8:122650000-122651000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:122650000-122655200	Active TSS	Fetal Kidney	kidney
21	chr8:122650000-122655200	Active TSS	Right Atrium	heart
22	chr8:122650200-122651200	Weak transcription	Fetal Brain Male	brain
23	chr8:122650200-122651400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:122650200-122651400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:122650200-122651400	Active TSS	Fetal Muscle Leg	muscle
26	chr8:122650200-122651600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:122650400-122655000	Active TSS	NHLF	lung
28	chr8:122650600-122651000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:122650600-122651000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:122650600-122651000	Active TSS	Fetal Lung	lung
31	chr8:122650800-122651000	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr8:122650800-122651200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:122650800-122651200	Enhancers	A549	lung
34	chr8:122650800-122651400	Enhancers	Adipose Nuclei	Adipose
35	chr8:122650800-122651400	Active TSS	Fetal Stomach	stomach
36	chr8:122650800-122651400	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr8:122650800-122651600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:122650800-122651800	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr8:122650800-122654400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:122650800-122654800	Active TSS	NHDF-Ad	bronchial
41	chr8:122650800-122655000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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