Variant report

Variant	rs4711549
Chromosome Location	chr6:38474663-38474664
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12524226	0.94[JPT][hapmap]
rs13203189	0.94[JPT][hapmap]
rs13219887	0.94[JPT][hapmap]
rs16890768	0.81[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs17590777	0.88[JPT][hapmap]
rs4711550	0.82[CEU][hapmap]

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	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4711549	ANKS1A	cis	cerebellum	SCAN
rs4711549	MDFI	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38444600-38496200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr6:38452400-38496600	Weak transcription	Primary B cells from cord blood	blood
3	chr6:38454400-38486400	Weak transcription	Primary T cells from cord blood	blood
4	chr6:38467200-38476400	Weak transcription	Ovary	ovary
5	chr6:38467400-38476400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:38468000-38476400	Weak transcription	Brain Substantia Nigra	brain
7	chr6:38468600-38486400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr6:38469200-38475000	Enhancers	Fetal Muscle Leg	muscle
9	chr6:38471400-38476400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr6:38471600-38476000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:38471600-38476000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:38471600-38476400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr6:38471600-38476400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:38471600-38484200	Weak transcription	Right Atrium	heart
15	chr6:38471600-38493200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:38471800-38476000	Weak transcription	HSMM	muscle
17	chr6:38471800-38476400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:38471800-38476400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:38472000-38476000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:38472000-38476400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:38472000-38476400	Weak transcription	Psoas Muscle	Psoas
22	chr6:38472000-38482400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr6:38472000-38493800	Weak transcription	Lung	lung
24	chr6:38472200-38476000	Weak transcription	Brain Anterior Caudate	brain
25	chr6:38472200-38476000	Weak transcription	Fetal Stomach	stomach
26	chr6:38472200-38476400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:38472400-38477600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:38472400-38481800	Weak transcription	Brain Hippocampus Middle	brain
29	chr6:38472800-38476000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:38472800-38476000	Weak transcription	HepG2	liver
31	chr6:38473000-38476200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:38473000-38477000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:38473200-38477200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:38473800-38475000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr6:38473800-38476000	Weak transcription	Fetal Brain Male	brain
36	chr6:38474000-38476200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr6:38474400-38475000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:38474400-38476400	Weak transcription	Fetal Lung	lung
39	chr6:38474400-38478200	Enhancers	HSMMtube	muscle
40	chr6:38474600-38476400	Weak transcription	Fetal Kidney	kidney

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