Variant report

Variant	rs4073975
Chromosome Location	chr18:12279075-12279076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12274281..12279698-chr18:12305807..12311128,5	K562	blood:
2	chr18:12271533..12274633-chr18:12277025..12281374,4	K562	blood:
3	chr18:12278124..12280961-chr18:12313263..12315293,2	K562	blood:
4	chr18:12277461..12279428-chr18:12655672..12658036,2	K562	blood:
5	chr18:11850419..11853228-chr18:12278563..12280532,2	K562	blood:

Variant related genes	Relation type
ENSG00000255112	Chromatin interaction
ENSG00000134278	Chromatin interaction
ENSG00000267165	Chromatin interaction
ENSG00000176014	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12960267	0.82[YRI][hapmap]
rs12966216	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv909401	chr18:12211483-12312075	Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv909402	chr18:12211483-12325222	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv909403	chr18:12231060-12325222	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1061545	chr18:12235999-12328405	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
11	nsv870342	chr18:12270808-12295798	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4073975	TUBB6	cis	lymphoblastoid	seeQTL
rs4073975	TUBB6	cis	cerebellum	SCAN

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12277000-12281000	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr18:12277400-12279400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr18:12277400-12279800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr18:12278000-12279200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr18:12278000-12279800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:12278000-12280200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:12278200-12279200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr18:12278200-12279200	Flanking Active TSS	Rectal Smooth Muscle	rectum
9	chr18:12278200-12279600	Enhancers	Fetal Thymus	thymus
10	chr18:12278200-12279600	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr18:12278200-12279800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:12278200-12279800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr18:12278200-12280000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr18:12278200-12280000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr18:12278200-12280000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr18:12278200-12280000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr18:12278200-12280000	Flanking Active TSS	Fetal Muscle Trunk	muscle
18	chr18:12278200-12280000	Enhancers	Stomach Mucosa	stomach
19	chr18:12278200-12280000	Flanking Active TSS	Osteobl	bone
20	chr18:12278200-12280200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr18:12278200-12280400	Enhancers	Lung	lung
22	chr18:12278200-12280400	Flanking Active TSS	HSMM	muscle
23	chr18:12278200-12284200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr18:12278400-12279200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr18:12278400-12279200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr18:12278400-12279200	Enhancers	Brain Germinal Matrix	brain
27	chr18:12278400-12279200	Flanking Active TSS	NHDF-Ad	bronchial
28	chr18:12278400-12279400	Enhancers	Fetal Brain Female	brain
29	chr18:12278400-12279600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:12278400-12279600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr18:12278400-12279800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr18:12278400-12279800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr18:12278400-12279800	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr18:12278400-12279800	Flanking Active TSS	Fetal Stomach	stomach
35	chr18:12278400-12279800	Enhancers	Hela-S3	cervix
36	chr18:12278400-12280000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr18:12278400-12280000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr18:12278400-12280000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr18:12278400-12280000	Active TSS	Colonic Mucosa	Colon
40	chr18:12278400-12280000	Flanking Active TSS	HUVEC	blood vessel
41	chr18:12278400-12280000	Flanking Active TSS	NH-A	brain
42	chr18:12278400-12280400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr18:12278400-12280400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr18:12278400-12280400	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr18:12278600-12279200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr18:12278600-12279200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr18:12278600-12279200	Active TSS	Right Ventricle	heart
48	chr18:12278600-12279400	Active TSS	Duodenum Mucosa	Duodenum
49	chr18:12278600-12279400	Enhancers	Fetal Brain Male	brain
50	chr18:12278600-12279400	Active TSS	Ovary	ovary

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