Variant report

Variant	rs1970454
Chromosome Location	chr10:99137608-99137609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:99122048..99124572-chr10:99134855..99137731,2	MCF-7	breast:
2	chr10:99136794..99139401-chr10:99158597..99161581,2	K562	blood:
3	chr10:99136375..99137940-chr10:99139187..99141281,2	K562	blood:

Variant related genes	Relation type
ENSG00000052749	Chromatin interaction
ENSG00000231970	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10509713	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189064	0.93[AMR][1000 genomes]
rs11189065	0.93[AMR][1000 genomes]
rs11189066	0.93[AMR][1000 genomes]
rs11189067	0.93[AMR][1000 genomes]
rs11189072	0.93[AMR][1000 genomes]
rs11189073	0.93[AMR][1000 genomes]
rs11189074	0.93[AMR][1000 genomes]
rs11189076	0.93[AMR][1000 genomes]
rs11189077	0.93[AMR][1000 genomes]
rs11189078	0.93[AMR][1000 genomes]
rs11189080	0.93[AMR][1000 genomes]
rs11189081	0.93[AMR][1000 genomes]
rs11189084	0.93[AMR][1000 genomes]
rs11189086	0.93[AMR][1000 genomes]
rs11189087	0.93[AMR][1000 genomes]
rs11189090	0.88[AMR][1000 genomes]
rs11189092	0.88[AMR][1000 genomes]
rs11189093	0.93[AMR][1000 genomes]
rs11189094	0.93[AMR][1000 genomes]
rs11189096	0.93[AMR][1000 genomes]
rs11189097	0.93[AMR][1000 genomes]
rs11189098	0.93[AMR][1000 genomes]
rs11189106	0.93[AMR][1000 genomes]
rs11189107	0.93[AMR][1000 genomes]
rs11189109	0.88[AMR][1000 genomes]
rs11189117	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11189118	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11189125	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11189129	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11189136	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11189140	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11189141	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11189143	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11189145	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11189146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11189148	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11189149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11189158	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189162	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189170	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189190	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11189198	0.96[EUR][1000 genomes]
rs11189199	0.96[EUR][1000 genomes]
rs12355279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12355311	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12355523	0.93[AMR][1000 genomes]
rs12355526	0.93[AMR][1000 genomes]
rs12356559	0.93[AMR][1000 genomes]
rs12356626	0.93[AMR][1000 genomes]
rs12356648	0.93[AMR][1000 genomes]
rs12356909	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12358104	0.93[AMR][1000 genomes]
rs12358257	0.93[AMR][1000 genomes]
rs12358267	0.93[AMR][1000 genomes]
rs12358452	0.93[AMR][1000 genomes]
rs12358520	0.96[EUR][1000 genomes]
rs12358777	0.93[AMR][1000 genomes]
rs12359143	0.93[AMR][1000 genomes]
rs12359467	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12359643	0.93[AMR][1000 genomes]
rs12359654	0.93[AMR][1000 genomes]
rs12360528	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1414742	0.93[AMR][1000 genomes]
rs1810982	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1970191	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41284270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41300219	0.96[EUR][1000 genomes]
rs45527941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7917149	0.88[AMR][1000 genomes]
rs884450	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9645543	0.93[AMR][1000 genomes]
rs9645559	0.93[AMR][1000 genomes]
rs9645560	0.93[AMR][1000 genomes]
rs9645561	0.93[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	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
5	nsv467438	chr10:99126249-99173870	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv552024	chr10:99126249-99173870	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv825535	chr10:99133673-99138975	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv467440	chr10:99134784-99204791	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv552025	chr10:99134784-99204791	Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99109000-99157800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr10:99109600-99157800	Strong transcription	Fetal Stomach	stomach
3	chr10:99110800-99139800	Weak transcription	Stomach Mucosa	stomach
4	chr10:99111600-99141800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr10:99113400-99158600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr10:99113800-99138800	Strong transcription	Fetal Intestine Small	intestine
7	chr10:99113800-99158800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr10:99113800-99159800	Weak transcription	Fetal Brain Male	brain
9	chr10:99114600-99159000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr10:99115200-99145800	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr10:99115200-99146800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:99115400-99157600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr10:99115600-99141600	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr10:99115600-99159800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr10:99115800-99157800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr10:99115800-99157800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:99115800-99158600	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr10:99117400-99138800	Strong transcription	Fetal Intestine Large	intestine
19	chr10:99118000-99159800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr10:99121000-99157600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr10:99121000-99159600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr10:99121200-99159600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr10:99122000-99141600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:99122400-99144000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr10:99122400-99145800	Strong transcription	Liver	Liver
26	chr10:99122400-99158800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr10:99122800-99159200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:99123000-99138800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr10:99125800-99150400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr10:99127000-99157600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr10:99127400-99157600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr10:99127800-99157600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr10:99128200-99141800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:99128200-99156600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr10:99128400-99141200	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr10:99128400-99142400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr10:99128400-99142400	Strong transcription	NH-A	brain
38	chr10:99128400-99151000	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr10:99128400-99159800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr10:99129600-99159200	Strong transcription	Osteobl	bone
41	chr10:99130200-99137800	Weak transcription	Hela-S3	cervix
42	chr10:99130800-99159600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr10:99131600-99139200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:99131600-99158400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr10:99132000-99157600	Strong transcription	Fetal Muscle Leg	muscle
46	chr10:99132200-99147800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr10:99132200-99149800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr10:99132600-99138000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr10:99132600-99147600	Weak transcription	NHDF-Ad	bronchial
50	chr10:99132600-99149200	Weak transcription	Fetal Kidney	kidney

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