Variant report

Variant	rs7004111
Chromosome Location	chr8:126621835-126621836
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126619050..126624593-chr8:126625487..126628558,5	MCF-7	breast:
2	chr8:126538658..126542290-chr8:126619301..126623874,4	MCF-7	breast:
3	chr8:126619990..126624184-chr8:126625667..126627988,3	K562	blood:
4	chr8:126620542..126623199-chr8:126642002..126644865,2	MCF-7	breast:
5	chr8:126440493..126443546-chr8:126619136..126621906,3	MCF-7	breast:
6	chr8:126616447..126617973-chr8:126621582..126623418,2	MCF-7	breast:
7	chr8:126615487..126618123-chr8:126620210..126621932,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10481155	1.00[CEU][hapmap];0.84[GIH][hapmap];0.89[TSI][hapmap];0.98[EUR][1000 genomes]
rs11777118	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs11783267	0.83[EUR][1000 genomes]
rs11995177	0.83[EUR][1000 genomes]
rs2891718	0.90[CEU][hapmap];0.95[CHB][hapmap];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57078059	0.81[EUR][1000 genomes]
rs7004305	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004432	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6377	chr8:126579620-126639253	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv38	chr8:126593465-126639253	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126611800-126622600	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:126612200-126625400	Enhancers	Primary B cells from cord blood	blood
3	chr8:126616400-126622800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr8:126618800-126627800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:126619600-126622000	Enhancers	Brain Anterior Caudate	brain
6	chr8:126619600-126622000	Enhancers	Brain Hippocampus Middle	brain
7	chr8:126619800-126622200	Enhancers	Spleen	Spleen
8	chr8:126620200-126627800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr8:126620600-126625400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:126620800-126625400	Weak transcription	Adipose Nuclei	Adipose
11	chr8:126620800-126625400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr8:126620800-126625600	Weak transcription	Fetal Brain Male	brain
13	chr8:126620800-126626000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:126621000-126622400	Weak transcription	Fetal Stomach	stomach
15	chr8:126621000-126622400	Enhancers	GM12878-XiMat	blood
16	chr8:126621000-126624000	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:126621000-126624400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:126621000-126625400	Weak transcription	Brain Substantia Nigra	brain
19	chr8:126621000-126625600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:126621000-126625600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:126621000-126625600	Weak transcription	Fetal Thymus	thymus
22	chr8:126621200-126622200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:126621400-126622400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr8:126621400-126623200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:126621400-126625000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:126621400-126625600	Weak transcription	Fetal Lung	lung
27	chr8:126621600-126622600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:126621600-126624600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:126621800-126622200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr8:126621800-126623000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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