Variant report

Variant	rs4647757
Chromosome Location	chr11:47259993-47259994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47234544..47240299-chr11:47253173..47262641,20	MCF-7	breast:
2	chr11:47256660..47260798-chr11:47290143..47292249,4	K562	blood:
3	chr11:47257344..47261784-chr11:47428504..47430961,3	K562	blood:
4	chr11:47256660..47261423-chr11:47290143..47292492,5	K562	blood:
5	chr11:47259282..47260250-chr9:139257399..139258290,2	Hela-S3	cervix:
6	chr11:47257788..47261523-chr11:47268362..47272495,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000025434	Chromatin interaction
ENSG00000213221	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000255197	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10838687	0.81[EUR][1000 genomes]
rs11039144	0.93[AMR][1000 genomes]
rs11039148	0.92[AMR][1000 genomes]
rs16938581	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2242261	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2242262	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2306353	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs2596397	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2596398	0.84[AMR][1000 genomes]
rs2633080	0.86[AMR][1000 genomes]
rs2633082	0.84[ASN][1000 genomes]
rs2633083	0.95[AMR][1000 genomes]
rs2957873	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs326224	0.83[AMR][1000 genomes]
rs35879051	0.80[AFR][1000 genomes]
rs3758669	0.82[AFR][1000 genomes]
rs3758670	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs3781619	0.93[AMR][1000 genomes]
rs3781620	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs3824866	0.93[AMR][1000 genomes]
rs4647725	0.83[AMR][1000 genomes]
rs4647726	0.83[AMR][1000 genomes]
rs4647737	0.93[AMR][1000 genomes]
rs4647741	0.95[AMR][1000 genomes]
rs4647754	0.93[AMR][1000 genomes]
rs4752972	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4752973	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4752979	0.81[EUR][1000 genomes]
rs59663860	0.80[AFR][1000 genomes]
rs6485751	0.81[EUR][1000 genomes]
rs7118396	0.93[AMR][1000 genomes]
rs7120158	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs7395496	0.85[AMR][1000 genomes]
rs7933246	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs7947269	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs830083	0.92[AMR][1000 genomes]
rs830084	0.91[AMR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4647757	ACP2	Cis_1M	lymphoblastoid	RTeQTL
rs4647757	ACP2	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47238400-47269400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47238600-47261000	Weak transcription	Small Intestine	intestine
3	chr11:47240000-47260200	Weak transcription	Fetal Brain Female	brain
4	chr11:47240200-47266600	Weak transcription	Fetal Brain Male	brain
5	chr11:47242400-47269200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:47242600-47260200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:47243600-47269200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:47246600-47267800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:47247400-47267600	Strong transcription	Thymus	Thymus
10	chr11:47248200-47265200	Strong transcription	GM12878-XiMat	blood
11	chr11:47248600-47260800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:47254000-47264600	Strong transcription	Dnd41	blood
13	chr11:47254600-47267800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr11:47254800-47261000	Weak transcription	Ovary	ovary
15	chr11:47255400-47262000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr11:47255400-47269200	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:47255600-47264600	Strong transcription	HepG2	liver
18	chr11:47255600-47268800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:47255800-47267600	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr11:47256000-47260200	Weak transcription	Brain Substantia Nigra	brain
21	chr11:47256000-47260600	Weak transcription	Fetal Kidney	kidney
22	chr11:47256000-47268000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:47256200-47260400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:47256200-47260800	Strong transcription	Fetal Intestine Small	intestine
25	chr11:47256200-47267800	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:47256400-47260600	Weak transcription	Brain Angular Gyrus	brain
27	chr11:47256400-47261000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:47256400-47267800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:47256600-47260000	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:47256600-47261000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr11:47256800-47260800	Weak transcription	Stomach Mucosa	stomach
32	chr11:47256800-47268800	Strong transcription	Fetal Thymus	thymus
33	chr11:47257000-47260200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr11:47257000-47260400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:47257000-47260800	Weak transcription	NH-A	brain
36	chr11:47257000-47261400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:47257200-47260200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr11:47257200-47260200	Weak transcription	Colonic Mucosa	Colon
39	chr11:47257200-47260400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr11:47257200-47260400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:47257200-47260600	Weak transcription	Fetal Heart	heart
42	chr11:47257200-47260800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr11:47257400-47260400	Weak transcription	Placenta	Placenta
44	chr11:47257400-47260800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:47257400-47262000	Strong transcription	HMEC	breast
46	chr11:47257600-47260000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:47257800-47267800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:47257800-47268000	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:47258000-47262600	Strong transcription	HSMMtube	muscle
50	chr11:47258000-47269000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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