Variant report

Variant	rs4930290
Chromosome Location	chr11:65104377-65104378
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65081631..65084592-chr11:65099872..65104597,5	K562	blood:
2	chr11:65100243..65104610-chr11:65105410..65109851,8	K562	blood:
3	chr11:65100322..65103953-chr11:65104304..65109119,7	MCF-7	breast:
4	chr11:65103664..65107529-chr11:65109355..65112247,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149798	Chromatin interaction
ENSG00000133884	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs5858	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs629710	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
4	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
5	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
6	nsv825950	chr11:65103396-65105970	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4930290	DPF2	Cis_1M	lymphoblastoid	RTeQTL
rs4930290	TIGD3	cis	Thyroid	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65102200-65105800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:65102400-65105800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:65102400-65105800	Weak transcription	Lung	lung
4	chr11:65102400-65107600	Weak transcription	Pancreas	Pancrea
5	chr11:65102400-65107800	Weak transcription	Esophagus	oesophagus
6	chr11:65102600-65107400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:65102600-65107800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:65102600-65107800	Weak transcription	Aorta	Aorta
9	chr11:65102600-65108400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:65102800-65105400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:65102800-65105600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:65102800-65105800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:65102800-65107200	Weak transcription	Brain Substantia Nigra	brain
14	chr11:65103000-65105600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:65103000-65105600	Weak transcription	Gastric	stomach
16	chr11:65103000-65105800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:65103000-65105800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:65103000-65105800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:65103000-65105800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:65103000-65105800	Weak transcription	Fetal Heart	heart
21	chr11:65103000-65105800	Weak transcription	Placenta	Placenta
22	chr11:65103000-65105800	Weak transcription	Right Atrium	heart
23	chr11:65103000-65105800	Weak transcription	Right Ventricle	heart
24	chr11:65103000-65105800	Weak transcription	A549	lung
25	chr11:65103000-65106000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:65103000-65106000	Enhancers	Primary T cells fromperipheralblood	blood
27	chr11:65103000-65106400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:65103000-65107600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:65103000-65107800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:65103000-65107800	Weak transcription	NHEK	skin
31	chr11:65103000-65108000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:65103200-65104400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr11:65103200-65104600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr11:65103200-65104600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:65103200-65104800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr11:65103200-65105000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:65103200-65105000	Weak transcription	GM12878-XiMat	blood
38	chr11:65103200-65105400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:65103200-65105600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:65103200-65105600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr11:65103200-65105600	Weak transcription	Primary B cells from cord blood	blood
42	chr11:65103200-65105600	Weak transcription	Primary T cells from cord blood	blood
43	chr11:65103200-65105600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:65103200-65105600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr11:65103200-65105600	Weak transcription	Fetal Intestine Large	intestine
46	chr11:65103200-65105600	Weak transcription	Fetal Lung	lung
47	chr11:65103200-65105600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr11:65103200-65105600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:65103200-65105600	Weak transcription	K562	blood
50	chr11:65103200-65105600	Weak transcription	Monocytes-CD14+_RO01746	blood

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