Variant report

Variant	rs2133684
Chromosome Location	chr12:117445637-117445638
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	chr12:117438206..117440859-chr12:117443702..117446007,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11068245	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11068247	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11068256	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068258	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11068262	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11068280	0.93[ASN][1000 genomes]
rs11068282	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11068286	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11068294	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11068296	0.80[ASN][1000 genomes]
rs17583145	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17616662	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2242469	0.80[ASN][1000 genomes]
rs3803089	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4347476	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7136629	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7977598	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr12:117387800-117463600	Weak transcription	HMEC	breast
3	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
4	chr12:117408400-117452200	Weak transcription	Thymus	Thymus
5	chr12:117411600-117451800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:117417200-117452400	Weak transcription	Psoas Muscle	Psoas
7	chr12:117417400-117453600	Weak transcription	GM12878-XiMat	blood
8	chr12:117426200-117466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:117428200-117447600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:117432000-117446200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:117432200-117446400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:117432600-117445800	Strong transcription	Fetal Muscle Leg	muscle
13	chr12:117434200-117449800	Weak transcription	NHEK	skin
14	chr12:117435600-117449800	Weak transcription	Stomach Mucosa	stomach
15	chr12:117437000-117447800	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:117437400-117451600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr12:117437600-117445800	Strong transcription	Primary B cells from cord blood	blood
18	chr12:117437600-117447000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:117437600-117448000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:117438200-117445800	Strong transcription	Primary T cells from cord blood	blood
21	chr12:117438200-117447600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:117438600-117446200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr12:117439200-117447000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:117439200-117447200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:117440400-117452200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:117440800-117446000	Strong transcription	HSMM	muscle
27	chr12:117441200-117449800	Weak transcription	Right Atrium	heart
28	chr12:117441200-117451200	Weak transcription	Fetal Brain Female	brain
29	chr12:117441800-117445800	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:117441800-117445800	Strong transcription	Osteobl	bone
31	chr12:117441800-117446000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:117441800-117446600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:117442200-117445800	Strong transcription	Stomach Smooth Muscle	stomach
34	chr12:117442200-117446200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:117442200-117446600	Strong transcription	A549	lung
36	chr12:117442400-117445800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:117442400-117445800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:117442400-117445800	Strong transcription	Adipose Nuclei	Adipose
39	chr12:117442400-117445800	Strong transcription	Placenta	Placenta
40	chr12:117442400-117445800	Strong transcription	Dnd41	blood
41	chr12:117442400-117445800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr12:117442400-117446000	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:117442400-117446000	Strong transcription	Liver	Liver
44	chr12:117442400-117446600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:117442400-117449600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:117442600-117447800	Weak transcription	Brain Germinal Matrix	brain
47	chr12:117443000-117446000	Strong transcription	Brain Anterior Caudate	brain
48	chr12:117443000-117447400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr12:117443200-117449600	Weak transcription	Fetal Brain Male	brain
50	chr12:117443400-117447000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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