Variant report

Variant	rs2433433
Chromosome Location	chr11:86452401-86452402
allele	C/T
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86446514..86448356-chr11:86449836..86452632,2	K562	blood:
2	chr11:86187402..86190173-chr11:86451965..86454595,2	MCF-7	breast:
3	chr11:86386903..86389522-chr11:86451138..86453581,3	MCF-7	breast:
4	chr11:86450401..86454128-chr11:86509734..86516006,8	MCF-7	breast:
5	chr11:86451377..86454000-chr11:86469217..86471649,2	MCF-7	breast:
6	chr11:86429172..86438482-chr11:86450202..86456550,9	MCF-7	breast:
7	chr11:86450780..86453510-chr11:86484513..86491302,5	MCF-7	breast:
8	chr11:86422351..86424027-chr11:86451990..86454405,2	MCF-7	breast:
9	chr11:86387904..86390324-chr11:86451509..86453266,2	MCF-7	breast:
10	chr11:86416368..86418805-chr11:86451504..86453400,2	MCF-7	breast:
11	chr11:86445700..86450143-chr11:86450733..86453676,4	MCF-7	breast:
12	chr11:86449893..86452658-chr11:86468673..86470208,2	MCF-7	breast:
13	chr11:86452259..86454963-chr11:86491551..86494314,2	MCF-7	breast:
14	chr11:86447300..86456471-chr11:86483287..86490697,27	MCF-7	breast:
15	chr11:86445705..86457398-chr11:86504607..86518485,46	MCF-7	breast:
16	chr11:86445788..86450763-chr11:86452280..86455324,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction
ENSG00000255250	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1075702	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11234783	0.90[ASN][1000 genomes]
rs11601553	0.86[JPT][hapmap]
rs12420039	0.80[MEX][hapmap]
rs12576018	0.83[ASN][1000 genomes]
rs12802848	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs17211787	0.86[MEX][hapmap]
rs17211926	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs17819068	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs17819187	0.80[MEX][hapmap]
rs1939111	0.80[MEX][hapmap]
rs2005192	0.82[CHB][hapmap]
rs2433406	0.86[CHB][hapmap]
rs2433407	0.91[CHB][hapmap]
rs2433408	0.86[CHB][hapmap]
rs2433409	0.91[CHB][hapmap];0.84[CHD][hapmap]
rs2433427	0.91[CHB][hapmap]
rs2433428	0.81[ASN][1000 genomes]
rs2433429	0.91[CHB][hapmap];0.82[CHD][hapmap];0.81[ASN][1000 genomes]
rs2433431	0.95[CHB][hapmap];0.85[CHD][hapmap];0.87[MEX][hapmap];0.83[ASN][1000 genomes]
rs2433432	0.95[CHB][hapmap];0.87[CHD][hapmap];0.87[MEX][hapmap];0.82[ASN][1000 genomes]
rs2433434	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433435	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2433436	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2433438	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2433439	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2433440	0.98[ASN][1000 genomes]
rs2433441	0.98[ASN][1000 genomes]
rs2512978	0.98[ASN][1000 genomes]
rs2512979	0.98[ASN][1000 genomes]
rs2512996	0.91[CHB][hapmap];0.85[CHD][hapmap];0.83[ASN][1000 genomes]
rs2512997	0.91[CHB][hapmap];0.85[CHD][hapmap];0.83[ASN][1000 genomes]
rs2512999	0.82[ASN][1000 genomes]
rs2513000	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2513001	0.83[ASN][1000 genomes]
rs2513003	0.95[CHB][hapmap];0.89[CHD][hapmap];0.87[MEX][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2513004	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2513005	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs2513018	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2513019	0.90[ASN][1000 genomes]
rs3096715	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3096716	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3096717	0.94[ASN][1000 genomes]
rs3096718	0.88[ASN][1000 genomes]
rs3809048	0.86[MEX][hapmap]
rs4128368	0.86[CHB][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap]
rs4245426	0.93[ASN][1000 genomes]
rs4269941	0.86[CHB][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap]
rs4304806	0.80[MEX][hapmap]
rs4307743	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs4495915	0.82[CEU][hapmap]
rs4570601	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs4586194	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4943957	0.90[ASN][1000 genomes]
rs4944629	0.87[ASN][1000 genomes]
rs4944630	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs6592315	0.81[JPT][hapmap]
rs7124794	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7126492	0.86[JPT][hapmap]
rs7948063	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7951582	0.82[CHB][hapmap];0.86[JPT][hapmap]

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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1049157	chr11:86409059-86504155	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv521505	chr11:86438115-86515072	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2433433	PRCP	cis	cerebellum	SCAN
rs2433433	CCDC83	cis	parietal	SCAN
rs2433433	TMEM126B	cis	parietal	SCAN

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86446000-86458000	Enhancers	HMEC	breast
2	chr11:86446200-86453200	Enhancers	Fetal Lung	lung
3	chr11:86446400-86455200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr11:86446600-86452600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:86446600-86453400	Enhancers	Fetal Stomach	stomach
6	chr11:86446800-86455400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:86447400-86455200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:86447600-86454200	Enhancers	NHDF-Ad	bronchial
9	chr11:86447800-86453400	Enhancers	Fetal Muscle Leg	muscle
10	chr11:86447800-86453800	Enhancers	Ovary	ovary
11	chr11:86448200-86454000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:86448400-86454200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:86448400-86456000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:86449000-86455000	Enhancers	Stomach Mucosa	stomach
15	chr11:86449000-86455200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:86449200-86455000	Enhancers	HepG2	liver
17	chr11:86449400-86454400	Enhancers	K562	blood
18	chr11:86449600-86455600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:86449800-86455000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:86449800-86455200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:86450200-86455200	Enhancers	Stomach Smooth Muscle	stomach
22	chr11:86450200-86459800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr11:86450400-86455000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:86450600-86454800	Enhancers	Right Atrium	heart
25	chr11:86450600-86455200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:86450800-86452600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:86450800-86452600	Enhancers	Esophagus	oesophagus
28	chr11:86450800-86454000	Enhancers	HSMMtube	muscle
29	chr11:86450800-86455000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr11:86450800-86455200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:86451000-86452600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr11:86451000-86452600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:86451000-86452600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr11:86451000-86452600	Enhancers	Aorta	Aorta
35	chr11:86451000-86452600	Enhancers	Brain Cingulate Gyrus	brain
36	chr11:86451000-86452600	Enhancers	Fetal Intestine Large	intestine
37	chr11:86451000-86452800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr11:86451000-86452800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr11:86451000-86453600	Enhancers	Rectal Smooth Muscle	rectum
40	chr11:86451000-86454000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr11:86451000-86454800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr11:86451000-86455200	Enhancers	Placenta	Placenta
43	chr11:86451200-86452600	Enhancers	Fetal Brain Male	brain
44	chr11:86451200-86452600	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr11:86451200-86452600	Enhancers	Right Ventricle	heart
46	chr11:86451200-86452800	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr11:86451200-86453000	Enhancers	Adipose Nuclei	Adipose
48	chr11:86451200-86453400	Enhancers	Brain Anterior Caudate	brain
49	chr11:86451200-86454000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr11:86451400-86452600	Enhancers	Sigmoid Colon	Sigmoid Colon

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