Variant report

Variant	rs4952203
Chromosome Location	chr2:32103689-32103690
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32083240..32085209-chr2:32102107..32103785,2	MCF-7	breast:
2	chr2:32091313..32092839-chr2:32101688..32104174,2	K562	blood:
3	chr2:32095703..32097989-chr2:32101903..32104757,2	MCF-7	breast:
4	chr2:32103181..32105560-chr2:32170554..32172181,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11124272	0.81[TSI][hapmap]
rs12991444	0.82[GIH][hapmap]
rs1978824	0.82[EUR][1000 genomes]
rs2064813	0.84[ASW][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap]
rs2082185	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2280968	0.82[GIH][hapmap]
rs4952244	0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv873777	chr2:32019747-32197123	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	esv1801791	chr2:32077901-32120807	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4952203	SLC30A6	cis	cerebellum	SCAN
rs4952203	EHD3	cis	parietal	SCAN
rs4952203	SLC30A6	cis	parietal	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32057200-32117200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:32061600-32172800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:32064600-32142400	Weak transcription	NHDF-Ad	bronchial
4	chr2:32065400-32123000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:32067000-32106200	Weak transcription	Left Ventricle	heart
6	chr2:32067200-32106000	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:32068000-32121400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:32068400-32106800	Weak transcription	Ovary	ovary
9	chr2:32068400-32115400	Weak transcription	NHEK	skin
10	chr2:32068400-32121400	Weak transcription	Fetal Brain Female	brain
11	chr2:32068800-32106800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:32069000-32116600	Weak transcription	Osteobl	bone
13	chr2:32071000-32115400	Weak transcription	Placenta	Placenta
14	chr2:32071400-32106000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:32071600-32106000	Weak transcription	Fetal Stomach	stomach
16	chr2:32071800-32116000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:32072600-32111800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:32074600-32127000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:32075800-32170000	Weak transcription	Aorta	Aorta
20	chr2:32077200-32115000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:32077200-32116400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:32079800-32106400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:32080400-32106000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:32083000-32110600	Weak transcription	Fetal Lung	lung
25	chr2:32083000-32115200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:32085200-32106200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:32086000-32109000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:32086200-32127000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:32086600-32174400	Weak transcription	NHLF	lung
30	chr2:32087600-32115200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:32088000-32106400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:32088000-32110800	Weak transcription	Fetal Brain Male	brain
33	chr2:32088000-32116000	Weak transcription	Adipose Nuclei	Adipose
34	chr2:32088000-32157600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:32088200-32127600	Weak transcription	K562	blood
36	chr2:32089400-32160000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:32090000-32116600	Weak transcription	NH-A	brain
38	chr2:32090200-32116000	Weak transcription	Dnd41	blood
39	chr2:32090800-32106800	Weak transcription	HSMM	muscle
40	chr2:32090800-32116000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:32091800-32110600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:32092400-32116400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:32092600-32107000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:32092800-32105000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:32093000-32122200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:32094600-32112000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:32099600-32193000	Weak transcription	Hela-S3	cervix
48	chr2:32100000-32104200	Weak transcription	Fetal Kidney	kidney
49	chr2:32100400-32106400	Weak transcription	Thymus	Thymus
50	chr2:32100600-32104400	Strong transcription	Primary T cells from cord blood	blood

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