Variant report

Variant	rs10802430
Chromosome Location	chr1:246826536-246826537
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs3006079	1.00[ASN][1000 genomes]
rs3006080	1.00[ASN][1000 genomes]
rs3007410	1.00[ASN][1000 genomes]
rs3124073	1.00[ASN][1000 genomes]
rs3124074	1.00[ASN][1000 genomes]
rs3129560	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34936435	1.00[ASN][1000 genomes]
rs7546639	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948348	chr1:246090818-246853200	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1013800	chr1:246472691-246840960	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv535409	chr1:246472691-246840960	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1002805	chr1:246608164-246890518	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv535413	chr1:246608164-246890518	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1010316	chr1:246686301-246840960	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv535414	chr1:246686301-246840960	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS 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	19 gene(s)	inside rSNPs	diseases
8	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv528615	chr1:246708467-246843315	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1005214	chr1:246730885-246841107	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1002595	chr1:246774036-246846548	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1007194	chr1:246813090-246855424	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246755400-246832800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:246784200-246833800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:246789200-246839200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:246796000-246831200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:246801000-246829000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:246801600-246842800	Weak transcription	Fetal Kidney	kidney
7	chr1:246804200-246833400	Strong transcription	Liver	Liver
8	chr1:246804600-246833800	Strong transcription	Primary T cells from cord blood	blood
9	chr1:246804800-246834200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:246805400-246837600	Weak transcription	Small Intestine	intestine
11	chr1:246810600-246828200	Weak transcription	Fetal Heart	heart
12	chr1:246811000-246828600	Weak transcription	Brain Anterior Caudate	brain
13	chr1:246811000-246835000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:246811200-246829000	Weak transcription	HSMM	muscle
15	chr1:246811200-246829600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:246811200-246835400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:246811200-246837400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:246811400-246828400	Weak transcription	Pancreas	Pancrea
19	chr1:246811400-246832600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:246811400-246837400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:246811600-246829000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:246811800-246828800	Weak transcription	Colonic Mucosa	Colon
23	chr1:246811800-246841000	Weak transcription	Hela-S3	cervix
24	chr1:246812800-246826800	Strong transcription	K562	blood
25	chr1:246813400-246829000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:246813400-246829200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:246814800-246829000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:246814800-246829200	Weak transcription	HUVEC	blood vessel
29	chr1:246814800-246829800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:246814800-246834000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:246815200-246829000	Weak transcription	NH-A	brain
32	chr1:246815200-246834400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:246815400-246830000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:246816800-246827000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:246816800-246833200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr1:246817400-246829200	Strong transcription	Fetal Stomach	stomach
37	chr1:246817800-246831000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:246817800-246832600	Weak transcription	A549	lung
39	chr1:246817800-246837400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:246817800-246837800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:246817800-246842600	Weak transcription	HSMMtube	muscle
42	chr1:246818000-246828800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:246818000-246829000	Weak transcription	Fetal Lung	lung
44	chr1:246818000-246829200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:246818200-246829200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:246818800-246829000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:246819000-246832800	Weak transcription	Fetal Brain Male	brain
48	chr1:246819800-246826600	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:246820000-246826600	Strong transcription	Thymus	Thymus
50	chr1:246820200-246826600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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