Variant report

Variant	rs56748599
Chromosome Location	chr10:99117908-99117909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:99115036..99117967-chr10:99132935..99135217,2	K562	blood:

Variant related genes	Relation type
ENSG00000052749	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17112651	1.00[ASN][1000 genomes]
rs29001298	1.00[AMR][1000 genomes]
rs57639633	1.00[AMR][1000 genomes]
rs60008603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60072398	0.91[ASN][1000 genomes]
rs60617946	1.00[ASN][1000 genomes]
rs61264486	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7076009	1.00[AMR][1000 genomes]
rs7902340	1.00[AMR][1000 genomes]
rs7918330	1.00[AMR][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	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS 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	53 gene(s)	inside rSNPs	diseases
2	nsv1045553	chr10:98944397-99122203	Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv540750	chr10:98944397-99122203	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831952	chr10:98998344-99145924	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv895914	chr10:99006083-99131676	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv467437	chr10:99115683-99167436	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv552023	chr10:99115683-99167436	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr10:99107000-99131800	Weak transcription	Fetal Kidney	kidney
2	chr10:99107200-99129200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr10:99109000-99157800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr10:99109400-99118400	Weak transcription	HMEC	breast
5	chr10:99109400-99120400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:99109600-99120600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:99109600-99157800	Strong transcription	Fetal Stomach	stomach
8	chr10:99109800-99118400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr10:99109800-99118400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr10:99110200-99118600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr10:99110400-99118400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr10:99110600-99132800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr10:99110800-99139800	Weak transcription	Stomach Mucosa	stomach
14	chr10:99111200-99121600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr10:99111600-99141800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:99113200-99135400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:99113400-99158600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:99113800-99138800	Strong transcription	Fetal Intestine Small	intestine
19	chr10:99113800-99158800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr10:99113800-99159800	Weak transcription	Fetal Brain Male	brain
21	chr10:99114000-99118200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:99114400-99135000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr10:99114600-99159000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr10:99115200-99119200	Strong transcription	Psoas Muscle	Psoas
25	chr10:99115200-99120600	Strong transcription	NHEK	skin
26	chr10:99115200-99120800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:99115200-99127000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:99115200-99133800	Strong transcription	A549	lung
29	chr10:99115200-99134200	Strong transcription	Gastric	stomach
30	chr10:99115200-99136000	Strong transcription	Fetal Brain Female	brain
31	chr10:99115200-99136800	Strong transcription	Dnd41	blood
32	chr10:99115200-99145800	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr10:99115200-99146800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr10:99115400-99119800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr10:99115400-99119800	Strong transcription	NH-A	brain
36	chr10:99115400-99121200	Strong transcription	HepG2	liver
37	chr10:99115400-99121400	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr10:99115400-99134200	Strong transcription	Pancreas	Pancrea
39	chr10:99115400-99157600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr10:99115600-99120400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr10:99115600-99120600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr10:99115600-99120800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr10:99115600-99120800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr10:99115600-99127000	Strong transcription	Ovary	ovary
45	chr10:99115600-99127600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr10:99115600-99133800	Genic enhancers	Primary monocytes fromperipheralblood	blood
47	chr10:99115600-99134000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr10:99115600-99141600	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr10:99115600-99159800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr10:99115800-99125200	Genic enhancers	Primary neutrophils fromperipheralblood	blood

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