Variant report

Variant	rs193115633
Chromosome Location	chr12:104512654-104512655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104500985..104502634-chr12:104512619..104514999,2	MCF-7	breast:
2	chr12:104510515..104519727-chr12:104525085..104533754,15	MCF-7	breast:
3	chr12:104263974..104266600-chr12:104512244..104514894,2	MCF-7	breast:
4	chr12:104457763..104459399-chr12:104511021..104513721,2	K562	blood:

Variant related genes	Relation type
ENSG00000111727	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000120820	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv1823607	chr12:104506318-104549541	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
3	esv1816017	chr12:104510676-104531860	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
2	chr12:104493200-104514400	Weak transcription	NHEK	skin
3	chr12:104493400-104513400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:104493400-104514400	Weak transcription	Brain Substantia Nigra	brain
5	chr12:104493400-104519200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:104493400-104519800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:104493600-104517400	Weak transcription	Right Ventricle	heart
8	chr12:104493800-104515400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:104493800-104518400	Weak transcription	Gastric	stomach
10	chr12:104493800-104530600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:104494400-104513600	Weak transcription	Brain Germinal Matrix	brain
12	chr12:104494400-104514000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:104494400-104516200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:104494400-104516200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:104494400-104521000	Weak transcription	Lung	lung
16	chr12:104494400-104521200	Weak transcription	Aorta	Aorta
17	chr12:104494400-104522600	Weak transcription	Spleen	Spleen
18	chr12:104494600-104516000	Weak transcription	Fetal Stomach	stomach
19	chr12:104495600-104514200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:104495600-104530800	Weak transcription	Esophagus	oesophagus
21	chr12:104497000-104514200	Weak transcription	NHLF	lung
22	chr12:104497000-104516000	Weak transcription	Ovary	ovary
23	chr12:104497000-104516200	Weak transcription	Left Ventricle	heart
24	chr12:104497000-104524600	Weak transcription	Pancreas	Pancrea
25	chr12:104497400-104513400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:104501200-104514800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:104501200-104519000	Weak transcription	K562	blood
28	chr12:104501400-104516000	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:104501600-104514400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr12:104502800-104526200	Weak transcription	Psoas Muscle	Psoas
31	chr12:104503000-104516000	Weak transcription	Thymus	Thymus
32	chr12:104503200-104513600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:104503200-104514800	Weak transcription	Brain Anterior Caudate	brain
34	chr12:104503200-104519800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:104503400-104513400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr12:104503400-104514800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr12:104503600-104514200	Weak transcription	Fetal Heart	heart
38	chr12:104503600-104514600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:104504000-104514000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:104504800-104514200	Weak transcription	HSMMtube	muscle
41	chr12:104505400-104514400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:104505400-104516000	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:104505600-104513400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:104505600-104516000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:104507200-104528000	Strong transcription	Placenta	Placenta
46	chr12:104507400-104513200	Strong transcription	Primary B cells from cord blood	blood
47	chr12:104508000-104514200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:104508000-104527000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr12:104508000-104528800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:104508200-104525000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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