Variant report

Variant	rs10441502
Chromosome Location	chr8:103253787-103253788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103250463..103253576-chr8:103253593..103260199,5	K562	blood:
2	chr8:103251288..103253851-chr8:103665938..103668117,3	MCF-7	breast:
3	chr8:103249647..103255113-chr8:103258766..103269094,16	K562	blood:
4	chr8:103251230..103254364-chr8:103817398..103821115,5	K562	blood:
5	chr8:103252256..103253981-chr8:103422815..103425571,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000272037	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000253669	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10103923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12707772	0.83[ASN][1000 genomes]
rs13258207	1.00[ASN][1000 genomes]
rs28498487	1.00[ASN][1000 genomes]
rs28657820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28928572	1.00[ASN][1000 genomes]
rs2925791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2925792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2978425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2978426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3018536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3018540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3018542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv891242	chr8:103210971-103282418	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv891243	chr8:103219629-103292724	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103252000-103268400	Weak transcription	Small Intestine	intestine
2	chr8:103252200-103253800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:103252200-103263000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr8:103252200-103268800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:103252200-103269400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:103252200-103273600	Weak transcription	Esophagus	oesophagus
7	chr8:103252200-103273600	Weak transcription	Spleen	Spleen
8	chr8:103252200-103273800	Weak transcription	Lung	lung
9	chr8:103252200-103292800	Weak transcription	Gastric	stomach
10	chr8:103252200-103318800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:103252400-103260200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:103252400-103262400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:103252400-103263000	Weak transcription	Fetal Thymus	thymus
14	chr8:103252400-103263200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:103252400-103263200	Weak transcription	Placenta	Placenta
16	chr8:103252400-103263400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr8:103252400-103263400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:103252400-103263800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:103252400-103265000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:103252400-103265200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:103252400-103266200	Weak transcription	Brain Angular Gyrus	brain
22	chr8:103252400-103266200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:103252400-103266200	Weak transcription	Left Ventricle	heart
24	chr8:103252400-103266200	Weak transcription	HSMMtube	muscle
25	chr8:103252400-103268800	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:103252400-103269200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:103252400-103271800	Weak transcription	Right Ventricle	heart
28	chr8:103252400-103272000	Weak transcription	Fetal Stomach	stomach
29	chr8:103252400-103273800	Weak transcription	Pancreas	Pancrea
30	chr8:103252400-103276000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:103252400-103280200	Weak transcription	Aorta	Aorta
32	chr8:103252400-103292400	Weak transcription	Psoas Muscle	Psoas
33	chr8:103252600-103257200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:103252600-103260000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:103252600-103262800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:103252600-103262800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:103252600-103262800	Weak transcription	NHDF-Ad	bronchial
38	chr8:103252600-103263200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:103252600-103263200	Weak transcription	Primary T cells from cord blood	blood
40	chr8:103252600-103263400	Weak transcription	NHLF	lung
41	chr8:103252600-103263400	Weak transcription	Osteobl	bone
42	chr8:103252600-103263600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:103252600-103264000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr8:103252600-103264000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:103252600-103264800	Weak transcription	Brain Hippocampus Middle	brain
46	chr8:103252600-103265200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:103252600-103266200	Weak transcription	Brain Substantia Nigra	brain
48	chr8:103252600-103267800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr8:103252600-103268400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:103252600-103268800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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