Variant report

Variant	rs11257482
Chromosome Location	chr10:6278851-6278852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6269695..6272460-chr10:6277246..6279145,2	K562	blood:
2	chr10:6253749..6256671-chr10:6278525..6281459,3	MCF-7	breast:
3	chr10:6243300..6247795-chr10:6278490..6283454,9	MCF-7	breast:
4	chr10:6205192..6207297-chr10:6278573..6280926,3	MCF-7	breast:
5	chr10:6276012..6279059-chr10:6319124..6321849,3	MCF-7	breast:
6	chr10:6273635..6276470-chr10:6276931..6279264,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215244	Chromatin interaction
ENSG00000213994	Chromatin interaction
ENSG00000170525	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1064891	0.81[JPT][hapmap]
rs10795915	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10795916	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11257470	0.83[MEX][hapmap]
rs11257472	0.96[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1040721	chr10:6155144-6322566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv540476	chr10:6155144-6322566	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv1041039	chr10:6217724-6354858	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv894836	chr10:6246678-6435374	Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv525622	chr10:6251252-6281215	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6247000-6280600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr10:6247200-6281000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr10:6253800-6281000	Weak transcription	Stomach Mucosa	stomach
4	chr10:6254400-6279200	Strong transcription	Dnd41	blood
5	chr10:6254600-6279200	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr10:6254600-6280000	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr10:6255000-6279200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:6255000-6279200	Strong transcription	Fetal Stomach	stomach
9	chr10:6255200-6279200	Strong transcription	Primary T cells from cord blood	blood
10	chr10:6255200-6279200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr10:6255200-6279400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr10:6255400-6279000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr10:6255400-6279400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:6256200-6279000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr10:6256200-6279200	Strong transcription	Adipose Nuclei	Adipose
16	chr10:6256400-6279200	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr10:6260200-6279400	Strong transcription	Lung	lung
18	chr10:6260600-6279400	Strong transcription	Brain Germinal Matrix	brain
19	chr10:6261000-6279400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:6261800-6281000	Weak transcription	NHDF-Ad	bronchial
21	chr10:6264800-6279200	Strong transcription	Stomach Smooth Muscle	stomach
22	chr10:6265000-6279000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:6266400-6279400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:6270000-6279800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:6270400-6279000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr10:6270600-6288600	Weak transcription	Fetal Kidney	kidney
27	chr10:6270800-6279200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr10:6272600-6281000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr10:6272600-6281000	Weak transcription	K562	blood
30	chr10:6272800-6279200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr10:6273600-6281000	Weak transcription	Hela-S3	cervix
32	chr10:6273600-6287800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr10:6274000-6279800	Weak transcription	Fetal Intestine Large	intestine
34	chr10:6274800-6279400	Strong transcription	Rectal Smooth Muscle	rectum
35	chr10:6274800-6280800	Weak transcription	HUVEC	blood vessel
36	chr10:6275400-6279200	Strong transcription	Brain Anterior Caudate	brain
37	chr10:6275800-6281000	Weak transcription	Osteobl	bone
38	chr10:6275800-6291000	Weak transcription	Psoas Muscle	Psoas
39	chr10:6276000-6279400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr10:6276000-6279400	Genic enhancers	A549	lung
41	chr10:6276000-6281000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr10:6276200-6281000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr10:6276200-6283000	Weak transcription	Primary B cells from cord blood	blood
44	chr10:6276400-6280000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr10:6276400-6280600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr10:6276400-6281000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr10:6276400-6282600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr10:6276400-6286200	Weak transcription	Colonic Mucosa	Colon
49	chr10:6276400-6288000	Weak transcription	Brain Angular Gyrus	brain
50	chr10:6276400-6288800	Weak transcription	Right Ventricle	heart

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