Variant report

Variant	rs12301230
Chromosome Location	chr12:67668198-67668199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67665523..67668331-chr12:67690936..67692642,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11176600	1.00[AMR][1000 genomes]
rs11176632	1.00[AMR][1000 genomes]
rs11176648	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11176649	1.00[AMR][1000 genomes]
rs12301290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301392	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301453	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302266	1.00[AMR][1000 genomes]
rs12302524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305775	1.00[AMR][1000 genomes]
rs12310041	1.00[AMR][1000 genomes]
rs12312066	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312713	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315232	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12316486	1.00[AMR][1000 genomes]
rs12319094	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322809	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377685	1.00[AMR][1000 genomes]
rs17854617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28545106	1.00[AMR][1000 genomes]
rs28646880	1.00[AMR][1000 genomes]
rs28677001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35314758	1.00[AMR][1000 genomes]
rs61685902	1.00[AMR][1000 genomes]
rs7298233	1.00[AMR][1000 genomes]
rs7967952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970098	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976779	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7978475	1.00[AMR][1000 genomes]
rs9652023	1.00[AMR][1000 genomes]

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	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3379921	chr12:67668058-67668338	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67664400-67669000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:67664400-67669200	Weak transcription	Gastric	stomach
3	chr12:67664400-67669400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:67664600-67684000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:67664800-67694400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:67664800-67699600	Weak transcription	Aorta	Aorta
7	chr12:67665200-67668600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:67665200-67669000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:67665200-67669400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:67665200-67670600	Weak transcription	Brain Angular Gyrus	brain
11	chr12:67665200-67671200	Weak transcription	Right Atrium	heart
12	chr12:67665200-67671800	Weak transcription	Esophagus	oesophagus
13	chr12:67665200-67673000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:67665200-67675400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr12:67665200-67675800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr12:67665200-67675800	Weak transcription	Placenta	Placenta
17	chr12:67665200-67675800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:67665200-67676200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:67665200-67678400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:67665200-67684400	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:67665200-67684600	Weak transcription	Thymus	Thymus
22	chr12:67665200-67690200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:67665200-67699000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:67665400-67668200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr12:67665400-67669600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:67665400-67670200	Weak transcription	HSMMtube	muscle
27	chr12:67665400-67671200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:67665400-67687600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:67665600-67668200	Enhancers	Primary T cells from cord blood	blood
30	chr12:67665600-67668200	Enhancers	NHEK	skin
31	chr12:67665600-67669800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:67665600-67672000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:67665600-67672000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr12:67665600-67673800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:67665600-67674600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:67665800-67668400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:67666000-67668600	Weak transcription	NHDF-Ad	bronchial
38	chr12:67666000-67670000	Weak transcription	Fetal Stomach	stomach
39	chr12:67666000-67670200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:67666000-67671000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:67666000-67671200	Weak transcription	Fetal Brain Female	brain
42	chr12:67666000-67688400	Weak transcription	Fetal Kidney	kidney
43	chr12:67666000-67701000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:67666200-67668200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr12:67666200-67668200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:67666200-67668200	Weak transcription	Osteobl	bone
47	chr12:67666200-67668400	Weak transcription	NHLF	lung
48	chr12:67666400-67669000	Genic enhancers	Dnd41	blood
49	chr12:67666400-67669400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:67666400-67670800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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