Variant report

Variant	rs280591
Chromosome Location	chr12:120290718-120290719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11064928	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064946	1.00[CEU][hapmap]
rs12303871	1.00[CEU][hapmap]
rs12319537	1.00[CEU][hapmap]
rs12320276	1.00[CEU][hapmap]
rs280590	1.00[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304029	1.00[CEU][hapmap]
rs7956730	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967407	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv455727	chr12:120259679-120420670	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv560397	chr12:120259679-120420670	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120209400-120293600	Weak transcription	Primary T cells from cord blood	blood
2	chr12:120223000-120314400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:120242600-120293800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:120242600-120294400	Weak transcription	Fetal Kidney	kidney
5	chr12:120254800-120314600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:120256600-120304000	Weak transcription	Fetal Heart	heart
7	chr12:120259200-120311800	Strong transcription	Dnd41	blood
8	chr12:120265200-120301800	Weak transcription	Osteobl	bone
9	chr12:120270400-120314200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:120272000-120303600	Weak transcription	Fetal Lung	lung
11	chr12:120272200-120306800	Weak transcription	HSMM	muscle
12	chr12:120273200-120309000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:120274800-120306200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:120276000-120307000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:120276200-120298600	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:120276200-120300600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:120276400-120291600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:120276400-120292000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:120276600-120297400	Strong transcription	Thymus	Thymus
20	chr12:120277000-120291200	Strong transcription	Fetal Thymus	thymus
21	chr12:120277000-120307200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:120277000-120314400	Weak transcription	Spleen	Spleen
23	chr12:120277200-120314600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:120277600-120303800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:120278400-120313800	Weak transcription	Brain Germinal Matrix	brain
26	chr12:120278600-120313800	Weak transcription	Fetal Brain Female	brain
27	chr12:120279400-120291000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:120279400-120301600	Weak transcription	Fetal Intestine Small	intestine
29	chr12:120279600-120303800	Weak transcription	Fetal Intestine Large	intestine
30	chr12:120279800-120314200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:120279800-120314400	Weak transcription	Primary B cells from cord blood	blood
32	chr12:120280200-120304400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:120281200-120304400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:120281400-120306400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:120283800-120291000	Strong transcription	GM12878-XiMat	blood
36	chr12:120283800-120292000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:120285600-120290800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:120285600-120291600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr12:120285600-120291800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:120285800-120291000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:120285800-120298000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:120286000-120314400	Weak transcription	Placenta	Placenta
43	chr12:120286200-120294000	Weak transcription	HUVEC	blood vessel
44	chr12:120286200-120305600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr12:120286400-120303600	Weak transcription	NH-A	brain
46	chr12:120286600-120293400	Weak transcription	NHEK	skin
47	chr12:120286600-120307000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:120287200-120293400	Weak transcription	Fetal Muscle Leg	muscle
49	chr12:120287200-120301800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:120288800-120291000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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