Variant report

Variant	rs4635056
Chromosome Location	chr11:18547049-18547050
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18546372..18549758-chr11:18653531..18658575,7	K562	blood:
2	chr11:18530137..18532670-chr11:18545448..18547562,2	K562	blood:
3	chr11:18546581..18551368-chr11:18654825..18657467,6	K562	blood:
4	chr11:18342189..18343915-chr11:18546820..18548379,2	MCF-7	breast:
5	chr11:18414795..18417618-chr11:18546727..18549809,4	MCF-7	breast:
6	chr11:18430626..18432747-chr11:18545645..18547445,2	K562	blood:
7	chr11:18546303..18549278-chr11:18609985..18612598,2	K562	blood:
8	chr11:18343253..18347316-chr11:18546908..18550670,5	K562	blood:
9	chr11:18533507..18535848-chr11:18546408..18548301,3	K562	blood:
10	chr11:18546489..18551340-chr11:18552893..18563258,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110756	Chromatin interaction
ENSG00000134333	Chromatin interaction
ENSG00000179119	Chromatin interaction
ENSG00000110768	Chromatin interaction
ENSG00000151116	Chromatin interaction
ENSG00000256588	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1857908	1.00[AMR][1000 genomes]
rs2658555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2658556	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2658560	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2698570	1.00[AMR][1000 genomes]
rs4150669	1.00[AMR][1000 genomes]
rs4757670	0.92[AFR][1000 genomes]
rs7107188	1.00[AMR][1000 genomes]
rs895531	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1038015	chr11:18435855-18558211	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18513000-18547600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:18515400-18547200	Weak transcription	Stomach Mucosa	stomach
3	chr11:18523800-18547400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:18524200-18547200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:18524200-18547400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:18527200-18547200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:18532800-18547400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:18533400-18547200	Weak transcription	A549	lung
9	chr11:18534800-18547200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:18535400-18547800	Weak transcription	Esophagus	oesophagus
11	chr11:18535600-18547600	Weak transcription	Aorta	Aorta
12	chr11:18535800-18547200	Weak transcription	HUVEC	blood vessel
13	chr11:18535800-18547400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:18535800-18547800	Weak transcription	Lung	lung
15	chr11:18536200-18547200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:18536200-18547200	Weak transcription	HSMMtube	muscle
17	chr11:18536600-18547200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:18536800-18547400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:18537200-18547400	Weak transcription	Colonic Mucosa	Colon
20	chr11:18537400-18547200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:18537400-18547200	Weak transcription	Brain Angular Gyrus	brain
22	chr11:18537400-18547200	Weak transcription	Brain Substantia Nigra	brain
23	chr11:18537400-18547200	Weak transcription	NHLF	lung
24	chr11:18537400-18547400	Weak transcription	Brain Anterior Caudate	brain
25	chr11:18537400-18547600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:18537800-18547200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:18537800-18547200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:18537800-18547400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:18537800-18547400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr11:18538000-18547200	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:18538800-18547200	Weak transcription	Fetal Stomach	stomach
32	chr11:18540000-18547200	Weak transcription	Fetal Kidney	kidney
33	chr11:18540200-18547200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:18540400-18547200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:18540400-18547400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr11:18540600-18547200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:18540800-18547200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:18540800-18547200	Weak transcription	Fetal Brain Female	brain
39	chr11:18541200-18547200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:18543600-18547400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr11:18544200-18547400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:18544400-18547200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:18544400-18547200	Weak transcription	Adipose Nuclei	Adipose
44	chr11:18544400-18547200	Weak transcription	Fetal Lung	lung
45	chr11:18544400-18547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:18544400-18547400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:18544600-18547200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:18544800-18547200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:18544800-18547200	Weak transcription	Colon Smooth Muscle	Colon
50	chr11:18544800-18547200	Weak transcription	HMEC	breast

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