Variant report

Variant	rs12550185
Chromosome Location	chr8:103903919-103903920
allele	C/T
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	chr8:103903631-103907236	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103875223..103878430-chr8:103902326..103905508,3	K562	blood:
2	chr8:103903842..103907470-chr8:103913570..103917002,5	MCF-7	breast:
3	chr8:103873381..103878542-chr8:103897806..103904719,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253263	TF binding region
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12544232	0.85[AMR][1000 genomes]
rs12546479	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546636	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546960	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547652	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549011	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549073	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17197341	0.88[AMR][1000 genomes]
rs17197736	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198079	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775390	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2137339	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2388369	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2388370	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734066	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734673	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734674	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734676	0.85[AMR][1000 genomes]
rs4734678	0.85[AMR][1000 genomes]
rs56854051	0.83[AMR][1000 genomes]
rs62522573	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62522576	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522615	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522616	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522617	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522618	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522619	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522620	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522621	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522622	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522623	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522624	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522626	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526529	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526533	0.82[AMR][1000 genomes]
rs62526534	0.82[AMR][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103877000-103906800	Weak transcription	Gastric	stomach
2	chr8:103877800-103906400	Weak transcription	HSMMtube	muscle
3	chr8:103878000-103906400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:103878000-103908800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:103878200-103906600	Weak transcription	Ovary	ovary
6	chr8:103879200-103922000	Weak transcription	Fetal Intestine Small	intestine
7	chr8:103882800-103906600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:103889800-103906200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:103889800-103906400	Weak transcription	Brain Substantia Nigra	brain
10	chr8:103890000-103906400	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:103890000-103906600	Weak transcription	Brain Anterior Caudate	brain
12	chr8:103890000-103906600	Weak transcription	Right Ventricle	heart
13	chr8:103890200-103906400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:103891000-103906600	Weak transcription	Liver	Liver
15	chr8:103891800-103907200	Weak transcription	Brain Germinal Matrix	brain
16	chr8:103893600-103906800	Weak transcription	Left Ventricle	heart
17	chr8:103893600-103906800	Weak transcription	Pancreas	Pancrea
18	chr8:103894000-103906400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:103894000-103906600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:103894200-103906000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr8:103894200-103906200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:103894200-103906600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:103894200-103914600	Weak transcription	Fetal Lung	lung
24	chr8:103896000-103906200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:103896000-103906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:103896400-103911200	Weak transcription	Primary T cells from cord blood	blood
27	chr8:103897600-103906600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:103898200-103906600	Weak transcription	Adipose Nuclei	Adipose
29	chr8:103898200-103906800	Weak transcription	Fetal Brain Female	brain
30	chr8:103898200-103906800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr8:103898400-103906200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:103899200-103906800	Weak transcription	Spleen	Spleen
33	chr8:103899400-103906800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:103899600-103904000	Weak transcription	Placenta	Placenta
35	chr8:103899600-103905200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:103899600-103906400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:103899600-103906600	Weak transcription	Fetal Stomach	stomach
38	chr8:103899600-103906800	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:103899600-103910200	Weak transcription	Thymus	Thymus
40	chr8:103899800-103906400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr8:103900000-103906200	Weak transcription	Fetal Thymus	thymus
42	chr8:103900800-103908600	Weak transcription	Primary B cells from cord blood	blood
43	chr8:103901000-103907000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr8:103902200-103904200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr8:103902400-103906400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:103902600-103904000	Enhancers	GM12878-XiMat	blood
47	chr8:103902600-103906000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:103902600-103906400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:103903000-103906400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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