Variant report

Variant	rs2111204
Chromosome Location	chr7:117450792-117450793
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:117446014..117448136-chr7:117449356..117451323,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10226236	0.92[CEU][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10230544	1.00[CHD][hapmap]
rs10247163	0.83[CHD][hapmap]
rs10249419	0.85[CHD][hapmap]
rs10254610	0.85[CHD][hapmap]
rs10258815	1.00[CHD][hapmap]
rs10274022	1.00[JPT][hapmap]
rs10278481	0.83[CHD][hapmap]
rs2193258	0.91[CEU][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2402264	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4730801	0.83[CHD][hapmap]
rs6466624	0.85[ASN][1000 genomes]
rs6973257	1.00[JPT][hapmap]
rs739798	0.85[CHD][hapmap]
rs7806235	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs929668	0.83[CHD][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2111204	ING3	cis	parietal	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117432200-117453000	Weak transcription	Aorta	Aorta
2	chr7:117432800-117451800	Weak transcription	Fetal Stomach	stomach
3	chr7:117437400-117456200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:117444400-117451600	Enhancers	Fetal Heart	heart
5	chr7:117445000-117450800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:117446200-117451000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:117447600-117450800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:117447600-117453400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:117447800-117451200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:117448000-117453400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:117448400-117451200	Enhancers	NHLF	lung
12	chr7:117448400-117451400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:117448400-117454200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:117448600-117450800	Weak transcription	Left Ventricle	heart
15	chr7:117448600-117451200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:117448600-117458400	Weak transcription	Esophagus	oesophagus
17	chr7:117448800-117452200	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:117449000-117451400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:117449000-117467200	Weak transcription	Fetal Brain Female	brain
20	chr7:117449200-117451400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:117449600-117451000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:117449600-117451000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:117449600-117451200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr7:117449600-117455800	Weak transcription	Adipose Nuclei	Adipose
25	chr7:117449600-117458400	Weak transcription	Brain Angular Gyrus	brain
26	chr7:117449800-117450800	Weak transcription	NHDF-Ad	bronchial
27	chr7:117450000-117451000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:117450000-117451200	Enhancers	Osteobl	bone
29	chr7:117450200-117451000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:117450200-117451000	Enhancers	Pancreas	Pancrea
31	chr7:117450200-117451200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:117450200-117451400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr7:117450200-117451600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:117450200-117451600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:117450200-117452400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:117450200-117458400	Weak transcription	Fetal Brain Male	brain
37	chr7:117450400-117450800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr7:117450400-117451000	Enhancers	Brain Cingulate Gyrus	brain
39	chr7:117450400-117451000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr7:117450400-117451200	Enhancers	H9 Cell Line	embryonic stem cell
41	chr7:117450400-117451400	Enhancers	Brain Hippocampus Middle	brain
42	chr7:117450400-117453200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr7:117450400-117455800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:117450600-117450800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr7:117450600-117451000	Flanking Active TSS	NH-A	brain
46	chr7:117450600-117451200	Enhancers	Brain Anterior Caudate	brain
47	chr7:117450600-117451400	Enhancers	Brain Substantia Nigra	brain
48	chr7:117450600-117451600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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