Variant report

Variant	rs61288481
Chromosome Location	chr8:124257671-124257672
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124254647..124257811-chr8:124257905..124262383,4	MCF-7	breast:
2	chr8:124256535..124259014-chr8:124261484..124263390,4	K562	blood:
3	chr8:124256098..124257838-chr8:124272302..124274143,2	K562	blood:
4	chr8:124256824..124259291-chr8:124274964..124276929,2	K562	blood:
5	chr8:124256002..124258845-chr8:124267002..124269680,2	MCF-7	breast:
6	chr8:124254552..124256429-chr8:124257441..124260057,2	MCF-7	breast:
7	chr8:124253700..124257884-chr8:124258396..124261295,6	K562	blood:

Variant related genes	Relation type
ENSG00000222607	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10102371	0.90[AFR][1000 genomes]
rs10105355	0.92[AFR][1000 genomes]
rs11985341	1.00[EUR][1000 genomes]
rs11990683	1.00[EUR][1000 genomes]
rs11990772	1.00[EUR][1000 genomes]
rs11994660	1.00[EUR][1000 genomes]
rs16898127	1.00[EUR][1000 genomes]
rs16898165	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16898247	0.87[AFR][1000 genomes]
rs55708440	1.00[EUR][1000 genomes]
rs59355895	1.00[EUR][1000 genomes]
rs59413499	1.00[EUR][1000 genomes]
rs6989437	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6996427	1.00[EUR][1000 genomes]
rs7000925	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73703766	1.00[EUR][1000 genomes]
rs73703768	1.00[EUR][1000 genomes]
rs73703779	1.00[EUR][1000 genomes]
rs73703788	1.00[EUR][1000 genomes]
rs73703796	0.94[AFR][1000 genomes]
rs7835285	0.84[AFR][1000 genomes]
rs900628	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124253600-124262800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:124253600-124263400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:124253600-124266400	Weak transcription	Gastric	stomach
4	chr8:124253600-124284200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr8:124253800-124259800	Weak transcription	GM12878-XiMat	blood
6	chr8:124253800-124261200	Weak transcription	HSMM	muscle
7	chr8:124253800-124263800	Weak transcription	Liver	Liver
8	chr8:124253800-124265800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:124253800-124266600	Weak transcription	Aorta	Aorta
10	chr8:124253800-124266800	Weak transcription	Esophagus	oesophagus
11	chr8:124253800-124267000	Weak transcription	A549	lung
12	chr8:124253800-124267000	Weak transcription	NHDF-Ad	bronchial
13	chr8:124253800-124269800	Weak transcription	Spleen	Spleen
14	chr8:124253800-124275400	Weak transcription	Colonic Mucosa	Colon
15	chr8:124254000-124260000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:124254000-124260000	Weak transcription	Adipose Nuclei	Adipose
17	chr8:124254000-124260400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:124254000-124261400	Weak transcription	Hela-S3	cervix
19	chr8:124254000-124262200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:124254000-124262800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:124254000-124262800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:124254000-124263000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:124254000-124263000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr8:124254000-124263200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:124254000-124263200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:124254000-124263200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:124254000-124263200	Weak transcription	Fetal Kidney	kidney
28	chr8:124254000-124263200	Weak transcription	Left Ventricle	heart
29	chr8:124254000-124263400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:124254000-124263400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:124254000-124263600	Weak transcription	NH-A	brain
32	chr8:124254000-124263600	Weak transcription	Osteobl	bone
33	chr8:124254000-124264000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:124254000-124264000	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:124254000-124264000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:124254000-124264000	Weak transcription	Fetal Lung	lung
37	chr8:124254000-124264200	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:124254000-124265200	Weak transcription	Fetal Intestine Large	intestine
39	chr8:124254000-124265600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr8:124254000-124265600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:124254000-124265600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:124254000-124265800	Weak transcription	Primary T cells from cord blood	blood
43	chr8:124254000-124265800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:124254000-124265800	Weak transcription	Placenta	Placenta
45	chr8:124254000-124265800	Weak transcription	Fetal Stomach	stomach
46	chr8:124254000-124265800	Weak transcription	Fetal Thymus	thymus
47	chr8:124254000-124265800	Weak transcription	Right Ventricle	heart
48	chr8:124254000-124265800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:124254000-124265800	Weak transcription	NHEK	skin
50	chr8:124254000-124266000	Weak transcription	Primary B cells from cord blood	blood

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