Variant report

Variant	rs10248082
Chromosome Location	chr7:102453331-102453332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102449182..102452214-chr7:102453198..102455672,3	K562	blood:
2	chr7:102451931..102453738-chr7:102614138..102615717,2	K562	blood:
3	chr7:102452440..102454909-chr7:102615064..102617723,2	K562	blood:
4	chr7:102446461..102450682-chr7:102452402..102456233,5	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10156027	1.00[AMR][1000 genomes]
rs10225811	1.00[AMR][1000 genomes]
rs10232029	1.00[AMR][1000 genomes]
rs10239891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10242506	1.00[AMR][1000 genomes]
rs10254234	1.00[AMR][1000 genomes]
rs10255596	1.00[AMR][1000 genomes]
rs10260888	1.00[AMR][1000 genomes]
rs10261565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10277828	1.00[AMR][1000 genomes]
rs10281578	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10282582	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28444303	1.00[AMR][1000 genomes]
rs28722504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58612464	1.00[AMR][1000 genomes]
rs6949710	1.00[AMR][1000 genomes]
rs6970026	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv1025363	chr7:102072448-102471485	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv469620	chr7:102296392-102454063	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv482714	chr7:102296392-102454063	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	esv2761100	chr7:102335787-102481978	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv470382	chr7:102375663-102538515	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv608057	chr7:102440184-102538515	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102416400-102467600	Weak transcription	Brain Anterior Caudate	brain
2	chr7:102419600-102454200	Weak transcription	Osteobl	bone
3	chr7:102419600-102456000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:102419800-102454000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:102421600-102475600	Weak transcription	Fetal Thymus	thymus
6	chr7:102422000-102474800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:102422000-102476000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:102436000-102454000	Weak transcription	NH-A	brain
9	chr7:102439000-102459600	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:102439600-102467400	Weak transcription	Thymus	Thymus
11	chr7:102439800-102463800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:102443800-102459600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:102444400-102463200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:102445600-102467600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:102445600-102469200	Weak transcription	Fetal Brain Male	brain
16	chr7:102445800-102467400	Weak transcription	Lung	lung
17	chr7:102446200-102467400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr7:102447000-102454000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:102447000-102454400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:102447000-102469400	Weak transcription	Brain Angular Gyrus	brain
21	chr7:102447200-102453800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:102447200-102454000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:102447200-102467400	Weak transcription	Primary B cells from cord blood	blood
24	chr7:102447200-102469400	Weak transcription	Fetal Brain Female	brain
25	chr7:102447400-102454000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr7:102447400-102462600	Weak transcription	Fetal Intestine Large	intestine
27	chr7:102447400-102477200	Weak transcription	Psoas Muscle	Psoas
28	chr7:102447600-102453600	Weak transcription	Fetal Kidney	kidney
29	chr7:102447800-102459400	Weak transcription	Gastric	stomach
30	chr7:102447800-102459600	Weak transcription	Spleen	Spleen
31	chr7:102447800-102459800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:102447800-102467400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:102447800-102473000	Weak transcription	Placenta	Placenta
34	chr7:102448000-102469200	Weak transcription	Right Ventricle	heart
35	chr7:102448000-102479000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:102448200-102470800	Weak transcription	Small Intestine	intestine
37	chr7:102448400-102471800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr7:102448800-102454000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:102449400-102453800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:102449400-102467400	Weak transcription	Left Ventricle	heart
41	chr7:102449400-102467600	Weak transcription	Fetal Muscle Leg	muscle
42	chr7:102449600-102453600	Weak transcription	Primary T cells from cord blood	blood
43	chr7:102449600-102463200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:102449600-102467400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr7:102449600-102469400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr7:102449800-102453800	Weak transcription	K562	blood
47	chr7:102450000-102475000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:102450200-102475600	Weak transcription	Esophagus	oesophagus
49	chr7:102450600-102454200	Enhancers	Primary hematopoietic stem cells	blood
50	chr7:102451200-102454200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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