Variant report

Variant	rs7302213
Chromosome Location	chr12:105159183-105159184
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1048662	0.86[AMR][1000 genomes]
rs10778350	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112189	1.00[EUR][1000 genomes]
rs11834087	0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs12307301	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12320887	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12320918	0.90[AMR][1000 genomes]
rs12321404	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12579202	0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs12579469	0.82[JPT][hapmap]
rs12579945	1.00[EUR][1000 genomes]
rs12580114	0.86[EUR][1000 genomes]
rs12580128	0.86[EUR][1000 genomes]
rs12580794	1.00[EUR][1000 genomes]
rs12582312	0.89[JPT][hapmap];0.86[EUR][1000 genomes]
rs17036358	1.00[EUR][1000 genomes]
rs17036429	0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs17036433	0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs17036489	0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs17036545	0.82[JPT][hapmap]
rs4369494	0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs4545639	0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs57144501	0.86[EUR][1000 genomes]
rs59079144	0.86[EUR][1000 genomes]
rs60976244	0.86[EUR][1000 genomes]
rs61262317	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61587191	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7301525	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73383408	0.86[EUR][1000 genomes]
rs73383420	0.86[EUR][1000 genomes]
rs73394174	1.00[EUR][1000 genomes]
rs73394185	1.00[EUR][1000 genomes]
rs73394186	1.00[EUR][1000 genomes]
rs73396157	0.86[EUR][1000 genomes]
rs73396159	0.86[EUR][1000 genomes]
rs73399912	0.86[EUR][1000 genomes]
rs73399925	0.86[EUR][1000 genomes]
rs73399927	0.86[EUR][1000 genomes]
rs73399929	0.86[EUR][1000 genomes]
rs73399931	0.86[EUR][1000 genomes]
rs73399934	0.86[EUR][1000 genomes]
rs73399944	0.86[EUR][1000 genomes]
rs73399947	0.86[EUR][1000 genomes]
rs73399956	0.86[EUR][1000 genomes]
rs73399960	0.86[EUR][1000 genomes]
rs73399968	0.86[EUR][1000 genomes]
rs7971315	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7971613	1.00[EUR][1000 genomes];0.95[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899496	chr12:105152391-105199038	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv899497	chr12:105155291-105247010	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105142400-105160800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:105143800-105160800	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:105145400-105161200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:105145600-105162800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:105145800-105161200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:105145800-105161200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:105145800-105161400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:105146000-105161400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:105146800-105161200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:105151400-105161200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:105151600-105160800	Weak transcription	Esophagus	oesophagus
12	chr12:105151600-105161800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:105151600-105162800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:105152400-105162600	Weak transcription	Brain Anterior Caudate	brain
15	chr12:105153200-105161800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:105154400-105162800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:105156200-105160800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:105156200-105160800	Weak transcription	Brain Germinal Matrix	brain
19	chr12:105156200-105163000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:105156400-105161400	Weak transcription	Fetal Brain Male	brain
21	chr12:105156800-105159200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr12:105156800-105159200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:105156800-105159200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:105157000-105159800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:105157200-105159200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr12:105157200-105161000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:105157400-105162600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:105157400-105162600	Weak transcription	NHEK	skin
29	chr12:105157400-105162800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:105157600-105162000	Weak transcription	HMEC	breast
31	chr12:105157600-105162200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:105157800-105159200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr12:105157800-105159800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr12:105158000-105159200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:105158000-105159200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr12:105158000-105159200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr12:105158000-105159400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:105158200-105159200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr12:105158400-105159200	Enhancers	Primary hematopoietic stem cells	blood
40	chr12:105158400-105159800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr12:105158600-105159200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:105158600-105159200	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr12:105158800-105161000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:105158800-105161800	Weak transcription	Ovary	ovary
45	chr12:105159000-105159200	Enhancers	Primary B cells from cord blood	blood
46	chr12:105159000-105159200	Enhancers	Primary T cells from cord blood	blood
47	chr12:105159000-105159200	Enhancers	GM12878-XiMat	blood

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