Variant report

Variant	rs4664356
Chromosome Location	chr2:152195934-152195935
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1023635	0.85[ASN][1000 genomes]
rs11678951	0.82[JPT][hapmap]
rs11693580	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13001328	0.81[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs13007728	0.85[ASN][1000 genomes]
rs4664322	0.86[ASN][1000 genomes]
rs4664349	0.82[JPT][hapmap];0.83[LWK][hapmap]
rs4665168	0.80[JPT][hapmap]
rs6713041	0.85[ASN][1000 genomes]
rs6752471	0.85[ASN][1000 genomes]
rs73004003	0.87[ASN][1000 genomes]

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	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4664356	TNFAIP6	cis	parietal	SCAN
rs4664356	RBM43	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152192200-152196000	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr2:152193200-152196000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr2:152193200-152196000	Enhancers	HUVEC	blood vessel
4	chr2:152193400-152196000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:152194000-152196200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:152194600-152196800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:152194800-152196600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:152194800-152196800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:152195000-152196600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr2:152195400-152196000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:152195400-152196600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:152195600-152196000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr2:152195600-152196000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:152195600-152196000	Active TSS	Brain Angular Gyrus	brain
15	chr2:152195600-152196000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:152195600-152196000	Flanking Active TSS	Fetal Brain Female	brain
17	chr2:152195600-152196000	Active TSS	Ovary	ovary
18	chr2:152195600-152196000	Active TSS	Right Atrium	heart
19	chr2:152195600-152196000	Enhancers	K562	blood
20	chr2:152195600-152196000	Active TSS	Osteobl	bone
21	chr2:152195600-152196200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:152195600-152196200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr2:152195600-152196200	Flanking Active TSS	Fetal Lung	lung
24	chr2:152195600-152196200	Active TSS	NH-A	brain
25	chr2:152195600-152196600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:152195600-152196600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:152195600-152196600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:152195800-152196000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr2:152195800-152196000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:152195800-152196000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr2:152195800-152196000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr2:152195800-152196000	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr2:152195800-152196000	Active TSS	Brain Anterior Caudate	brain
34	chr2:152195800-152196000	Enhancers	Fetal Muscle Trunk	muscle
35	chr2:152195800-152196000	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr2:152195800-152196000	Active TSS	NHDF-Ad	bronchial
37	chr2:152195800-152196200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:152195800-152196200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:152195800-152196200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr2:152195800-152196200	Active TSS	Brain Hippocampus Middle	brain
41	chr2:152195800-152196200	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr2:152195800-152196200	Flanking Active TSS	Fetal Brain Male	brain
43	chr2:152195800-152196200	Flanking Active TSS	NHLF	lung
44	chr2:152195800-152196400	Weak transcription	H9 Cell Line	embryonic stem cell

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