Variant report

Variant	rs3209286
Chromosome Location	chr10:5753516-5753517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5725582..5728827-chr10:5752793..5758658,6	MCF-7	breast:
2	chr10:5751112..5753798-chr10:5754382..5757716,3	K562	blood:
3	chr10:5733787..5736575-chr10:5751182..5753712,2	MCF-7	breast:
4	chr10:5726626..5728206-chr10:5753168..5755087,2	K562	blood:
5	chr10:5747573..5749286-chr10:5752510..5754353,2	K562	blood:
6	chr10:5749331..5751583-chr10:5752146..5753784,2	MCF-7	breast:
7	chr10:5733731..5736743-chr10:5750015..5755601,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108021	Chromatin interaction
ENSG00000226647	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10128251	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10752281	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11255780	1.00[JPT][hapmap]
rs12359234	1.00[JPT][hapmap]
rs12762316	1.00[ASN][1000 genomes]
rs12777477	1.00[JPT][hapmap]
rs12777965	1.00[ASN][1000 genomes]
rs12785055	1.00[JPT][hapmap]
rs4748018	1.00[ASN][1000 genomes]
rs6602330	1.00[JPT][hapmap]
rs6602819	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7067928	1.00[JPT][hapmap]
rs7082434	1.00[JPT][hapmap]
rs7097144	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7908235	0.88[CEU][hapmap];0.97[TSI][hapmap];0.84[EUR][1000 genomes]
rs7919913	1.00[JPT][hapmap]
rs9424204	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][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	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	esv1796213	chr10:5716555-5766165	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv522415	chr10:5721653-5768493	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1050663	chr10:5737979-5785918	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv528504	chr10:5739054-5754611	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3209286	AKR1E2	cis	parietal	SCAN
rs3209286	CALML5	cis	parietal	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5734800-5763400	Weak transcription	HSMM	muscle
2	chr10:5735200-5767000	Weak transcription	Fetal Muscle Leg	muscle
3	chr10:5735400-5761600	Weak transcription	NHEK	skin
4	chr10:5735400-5762000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:5738600-5769000	Weak transcription	Left Ventricle	heart
6	chr10:5740400-5768600	Weak transcription	Psoas Muscle	Psoas
7	chr10:5741400-5760600	Weak transcription	Small Intestine	intestine
8	chr10:5741400-5765600	Weak transcription	A549	lung
9	chr10:5743200-5753600	Weak transcription	HepG2	liver
10	chr10:5743200-5762600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr10:5749600-5753600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr10:5750000-5763400	Weak transcription	K562	blood
13	chr10:5751600-5763800	Weak transcription	Osteobl	bone
14	chr10:5751800-5753800	Enhancers	Brain Hippocampus Middle	brain
15	chr10:5751800-5753800	Flanking Active TSS	GM12878-XiMat	blood
16	chr10:5752200-5753800	Enhancers	NHLF	lung
17	chr10:5752200-5763600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:5752600-5753800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr10:5752600-5760800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:5752600-5767000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr10:5752800-5753600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:5752800-5753600	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr10:5752800-5753600	Active TSS	Primary T cells fromperipheralblood	blood
24	chr10:5752800-5753600	Active TSS	Adipose Nuclei	Adipose
25	chr10:5752800-5753800	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr10:5752800-5753800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr10:5752800-5753800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr10:5752800-5753800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr10:5752800-5753800	Active TSS	Duodenum Mucosa	Duodenum
30	chr10:5752800-5753800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr10:5752800-5753800	Active TSS	Right Atrium	heart
32	chr10:5752800-5754000	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr10:5753000-5753800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr10:5753000-5753800	Enhancers	Brain Substantia Nigra	brain
35	chr10:5753000-5753800	Active TSS	Monocytes-CD14+_RO01746	blood
36	chr10:5753000-5754000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr10:5753000-5754000	Active TSS	HMEC	breast
38	chr10:5753000-5762600	Weak transcription	Dnd41	blood
39	chr10:5753200-5753600	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr10:5753200-5753600	Active TSS	Liver	Liver
41	chr10:5753200-5753600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr10:5753200-5753800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr10:5753200-5753800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr10:5753200-5753800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr10:5753200-5754000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr10:5753400-5753600	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr10:5753400-5753600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr10:5753400-5753600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr10:5753400-5753600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr10:5753400-5753600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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