Variant report

Variant	rs10848078
Chromosome Location	chr12:123417188-123417189
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	chr12:123415535..123420026-chr12:123422545..123426280,4	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11059966	1.00[MEX][hapmap]
rs11060136	1.00[LWK][hapmap]
rs11546826	1.00[MEX][hapmap]
rs11611551	1.00[MEX][hapmap]
rs12580585	1.00[LWK][hapmap]
rs35456417	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv976725	chr12:123412328-123429898	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123401400-123417200	Weak transcription	Osteobl	bone
2	chr12:123401400-123425200	Weak transcription	Esophagus	oesophagus
3	chr12:123401400-123426000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:123402600-123429200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:123402800-123426600	Weak transcription	NHLF	lung
6	chr12:123402800-123429200	Weak transcription	Gastric	stomach
7	chr12:123402800-123430800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:123403000-123426400	Weak transcription	Left Ventricle	heart
9	chr12:123403000-123428800	Weak transcription	Lung	lung
10	chr12:123403000-123444200	Weak transcription	Aorta	Aorta
11	chr12:123403400-123427000	Weak transcription	A549	lung
12	chr12:123405200-123424800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:123405200-123428600	Weak transcription	NHEK	skin
14	chr12:123406800-123419800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:123406800-123426600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:123409400-123427600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:123411800-123428800	Weak transcription	Fetal Brain Male	brain
18	chr12:123412400-123427200	Weak transcription	Adipose Nuclei	Adipose
19	chr12:123412800-123427400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:123412800-123431800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:123412800-123449200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:123413000-123418000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:123413200-123418800	Weak transcription	Primary B cells from cord blood	blood
24	chr12:123413200-123424400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:123413400-123419800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:123413400-123425400	Strong transcription	Fetal Brain Female	brain
27	chr12:123413400-123427200	Weak transcription	Small Intestine	intestine
28	chr12:123413400-123427400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:123413400-123427600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:123413400-123427600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:123413400-123449600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:123413600-123421400	Weak transcription	Placenta	Placenta
33	chr12:123413600-123422000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:123413600-123431400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:123413600-123450000	Weak transcription	Primary T cells from cord blood	blood
36	chr12:123414000-123417800	Strong transcription	Brain Cingulate Gyrus	brain
37	chr12:123414000-123417800	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr12:123414000-123417800	Strong transcription	Fetal Intestine Small	intestine
39	chr12:123414000-123432400	Weak transcription	Fetal Kidney	kidney
40	chr12:123414200-123417400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:123414200-123417400	Strong transcription	Ovary	ovary
42	chr12:123414200-123417800	Strong transcription	Fetal Stomach	stomach
43	chr12:123414600-123417400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:123414600-123418000	Strong transcription	Brain Hippocampus Middle	brain
45	chr12:123414600-123419000	Weak transcription	Fetal Intestine Large	intestine
46	chr12:123414600-123420000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:123414800-123418000	Weak transcription	Thymus	Thymus
48	chr12:123414800-123419800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:123414800-123420200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:123414800-123427400	Weak transcription	Spleen	Spleen

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