Variant report

Variant	rs560254612
Chromosome Location	chr12:39702590-39702591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:39701435..39705436-chr12:39706649..39711644,6	MCF-7	breast:
2	chr12:39685600..39687183-chr12:39700503..39702703,2	K562	blood:
3	chr12:39701621..39703209-chr12:39709361..39712125,2	K562	blood:
4	chr12:39701709..39705031-chr12:39707216..39710861,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899013	chr12:39567945-39732430	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv832375	chr12:39599362-39784722	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv832376	chr12:39633080-39808277	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv470286	chr12:39651893-39729700	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv558589	chr12:39667861-39768356	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	esv2494882	chr12:39701766-39703229	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39685200-39714400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:39686600-39722400	Weak transcription	GM12878-XiMat	blood
3	chr12:39686600-39725400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:39686800-39729800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:39686800-39738800	Weak transcription	Pancreas	Pancrea
6	chr12:39687200-39726400	Weak transcription	Fetal Intestine Small	intestine
7	chr12:39687600-39723800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:39688400-39709800	Weak transcription	Ovary	ovary
9	chr12:39688400-39724600	Weak transcription	Esophagus	oesophagus
10	chr12:39688400-39726400	Weak transcription	Aorta	Aorta
11	chr12:39689000-39724000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:39689600-39725400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:39690400-39703000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:39690400-39715200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:39690600-39711600	Weak transcription	Placenta	Placenta
16	chr12:39690800-39704400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:39691800-39703400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:39693800-39705600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:39695000-39726400	Weak transcription	Fetal Intestine Large	intestine
20	chr12:39695000-39726400	Weak transcription	HepG2	liver
21	chr12:39695400-39704400	Weak transcription	NHEK	skin
22	chr12:39695600-39703200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:39695600-39724000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:39695600-39742000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:39695800-39703400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:39696200-39705400	Weak transcription	HSMMtube	muscle
27	chr12:39696600-39762200	Weak transcription	Fetal Brain Male	brain
28	chr12:39696800-39705800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:39696800-39712000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:39697200-39705400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:39697400-39705400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:39697600-39711000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:39697800-39771800	Weak transcription	Fetal Kidney	kidney
34	chr12:39698000-39724400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:39698200-39724400	Weak transcription	K562	blood
36	chr12:39698600-39703000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:39698600-39724000	Weak transcription	Brain Anterior Caudate	brain
38	chr12:39698600-39724000	Weak transcription	Brain Substantia Nigra	brain
39	chr12:39698600-39725200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:39698600-39725400	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:39698800-39711000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:39699400-39704800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:39699600-39710000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:39699600-39724600	Weak transcription	Brain Angular Gyrus	brain
45	chr12:39699600-39760600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:39700000-39721400	Weak transcription	Fetal Heart	heart
47	chr12:39700600-39723400	Weak transcription	Adipose Nuclei	Adipose
48	chr12:39700600-39724000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:39700800-39724000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:39701000-39704200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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