Variant report

Variant	rs326224
Chromosome Location	chr11:47255598-47255599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47254998..47256741-chr11:47266407..47268575,2	K562	blood:
2	chr11:47253032..47256310-chr11:47277648..47280941,3	MCF-7	breast:
3	chr11:47252711..47255857-chr11:47290010..47293384,5	MCF-7	breast:
4	chr11:47255181..47256141-chr11:47370556..47371064,2	MCF-7	breast:
5	chr11:47207072..47208935-chr11:47255110..47257481,3	MCF-7	breast:
6	chr11:47234544..47240299-chr11:47253173..47262641,20	MCF-7	breast:
7	chr11:47254776..47256305-chr11:47290925..47292746,2	K562	blood:
8	chr11:47254323..47256222-chr11:47256983..47259410,2	MCF-7	breast:
9	chr11:47253884..47256462-chr11:47268620..47272796,4	K562	blood:
10	chr11:47249459..47253221-chr11:47254419..47257374,3	K562	blood:
11	chr11:47235195..47238738-chr11:47253063..47257096,4	K562	blood:
12	chr11:47209362..47211566-chr11:47254961..47257621,2	MCF-7	breast:
13	chr11:47240491..47243810-chr11:47254933..47257331,3	MCF-7	breast:
14	chr11:47253350..47256104-chr11:47295633..47299612,4	MCF-7	breast:
15	chr11:47254425..47257069-chr11:47279237..47281162,2	MCF-7	breast:
16	chr11:47254714..47257684-chr11:47290232..47292284,2	MCF-7	breast:
17	chr11:47255507..47257746-chr11:47267199..47270401,3	MCF-7	breast:
18	chr11:47235195..47238586-chr11:47253063..47256921,3	K562	blood:
19	chr11:47255190..47256034-chr11:47280795..47281718,3	MCF-7	breast:
20	chr11:47198652..47199517-chr11:47255469..47256499,3	MCF-7	breast:
21	chr11:47240521..47243855-chr11:47254261..47256782,3	MCF-7	breast:
22	chr11:47255280..47255866-chr11:47376834..47377535,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134575	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000256897	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000110514	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11039144	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11039148	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12574081	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16938581	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2242261	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2242262	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2279238	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2306353	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2596398	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2633080	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2633083	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2957873	0.80[ASN][1000 genomes]
rs3758670	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3781619	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781620	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3824866	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4647725	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4647726	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4647737	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4647741	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4647754	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4647757	0.83[AMR][1000 genomes]
rs4752972	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4752973	0.86[AMR][1000 genomes]
rs7118396	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7120158	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7395496	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7933246	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs830083	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs830084	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer 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	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs326224	ACP2	cis	Thyroid	GTEx
rs326224	DDB2	Cis_1M	lymphoblastoid	RTeQTL
rs326224	ACP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47238400-47255800	Weak transcription	Brain Anterior Caudate	brain
2	chr11:47238400-47269400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:47238600-47255600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:47238600-47255800	Weak transcription	Brain Substantia Nigra	brain
5	chr11:47238600-47255800	Weak transcription	Right Atrium	heart
6	chr11:47238600-47256000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:47238600-47259600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:47238600-47261000	Weak transcription	Small Intestine	intestine
9	chr11:47239800-47255600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:47239800-47255600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr11:47240000-47260200	Weak transcription	Fetal Brain Female	brain
12	chr11:47240200-47255600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:47240200-47255800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:47240200-47256000	Weak transcription	Gastric	stomach
15	chr11:47240200-47266600	Weak transcription	Fetal Brain Male	brain
16	chr11:47240400-47255800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:47241400-47255600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:47241800-47256000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:47242000-47255800	Weak transcription	Left Ventricle	heart
20	chr11:47242200-47258200	Weak transcription	Fetal Lung	lung
21	chr11:47242400-47256000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:47242400-47257800	Weak transcription	K562	blood
23	chr11:47242400-47258000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:47242400-47258000	Weak transcription	Primary B cells from cord blood	blood
25	chr11:47242400-47269200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:47242600-47259600	Weak transcription	Brain Germinal Matrix	brain
27	chr11:47242600-47260200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr11:47243000-47255600	Weak transcription	Fetal Heart	heart
29	chr11:47243600-47269200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:47246200-47256600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:47246400-47256800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:47246600-47267800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:47246800-47256200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:47247400-47267600	Strong transcription	Thymus	Thymus
35	chr11:47247800-47256000	Weak transcription	Hela-S3	cervix
36	chr11:47247800-47256600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr11:47248200-47255800	Weak transcription	Colonic Mucosa	Colon
38	chr11:47248200-47258600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:47248200-47259400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:47248200-47265200	Strong transcription	GM12878-XiMat	blood
41	chr11:47248600-47255600	Weak transcription	Adipose Nuclei	Adipose
42	chr11:47248600-47260800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:47249400-47259400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:47249600-47256200	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:47249600-47256400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:47250000-47256400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:47251000-47255800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:47251000-47255800	Weak transcription	Spleen	Spleen
49	chr11:47251200-47256000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:47251200-47259400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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