Variant report

Variant	rs12227757
Chromosome Location	chr12:39689322-39689323
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10243	1.00[LWK][hapmap]
rs11171717	1.00[LWK][hapmap]
rs11172132	1.00[LWK][hapmap]
rs9668320	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39674800-39690200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:39682000-39699200	Weak transcription	Hela-S3	cervix
3	chr12:39683200-39696000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:39684400-39695400	Weak transcription	A549	lung
5	chr12:39685200-39697400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:39685200-39714400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:39686400-39699600	Weak transcription	HMEC	breast
8	chr12:39686600-39722400	Weak transcription	GM12878-XiMat	blood
9	chr12:39686600-39725400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:39686800-39729800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:39686800-39738800	Weak transcription	Pancreas	Pancrea
12	chr12:39687200-39696800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:39687200-39726400	Weak transcription	Fetal Intestine Small	intestine
14	chr12:39687600-39723800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:39688000-39689600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:39688000-39690400	Weak transcription	Liver	Liver
17	chr12:39688400-39689400	Enhancers	Brain Cingulate Gyrus	brain
18	chr12:39688400-39689400	Enhancers	Brain Hippocampus Middle	brain
19	chr12:39688400-39689400	Enhancers	Fetal Brain Female	brain
20	chr12:39688400-39694000	Weak transcription	Brain Germinal Matrix	brain
21	chr12:39688400-39709800	Weak transcription	Ovary	ovary
22	chr12:39688400-39724600	Weak transcription	Esophagus	oesophagus
23	chr12:39688400-39726400	Weak transcription	Aorta	Aorta
24	chr12:39688600-39689600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:39688800-39689600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:39688800-39689600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr12:39688800-39690400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:39688800-39690600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:39688800-39690600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:39688800-39693800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:39688800-39695400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:39688800-39696800	Weak transcription	Brain Anterior Caudate	brain
33	chr12:39688800-39697200	Weak transcription	Left Ventricle	heart
34	chr12:39688800-39698200	Weak transcription	Brain Substantia Nigra	brain
35	chr12:39689000-39689400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:39689000-39695600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:39689000-39697800	Weak transcription	Brain Angular Gyrus	brain
38	chr12:39689000-39698400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:39689000-39699600	Weak transcription	Fetal Heart	heart
40	chr12:39689000-39724000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:39689200-39689400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr12:39689200-39689400	Enhancers	Fetal Brain Male	brain
43	chr12:39689200-39690400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:39689200-39691800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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