Variant report

Variant	rs12607378
Chromosome Location	chr18:12316900-12316901
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12311936..12317885-chr18:12323414..12329476,8	K562	blood:
2	chr18:12312656..12314988-chr18:12316506..12319573,3	MCF-7	breast:
3	chr18:12314155..12316908-chr18:12374890..12378793,4	K562	blood:

Variant related genes	Relation type
ENSG00000141385	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10853224	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11080567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11267036	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11548177	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11659246	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11660106	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11660222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11663340	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11664255	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11664282	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12455756	0.82[EUR][1000 genomes]
rs12607250	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12607321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12959653	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12959674	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12960267	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12963761	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12965912	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12970667	0.83[ASN][1000 genomes]
rs28625182	0.84[EUR][1000 genomes]
rs34685983	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35242253	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4796958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4796959	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4796960	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4796962	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4796963	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4797672	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4797673	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4797674	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4797675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58136410	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61604633	0.83[EUR][1000 genomes]
rs62097556	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6505749	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6505751	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7231304	0.82[EUR][1000 genomes]
rs7233290	0.82[EUR][1000 genomes]
rs7244254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244709	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7504558	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7504575	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7504616	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7505208	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7505255	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7505626	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8083882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8087843	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8098040	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8098700	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8099636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9303766	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9303767	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9303768	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9652931	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9807444	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9945901	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9946172	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9946217	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9946347	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9949054	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9954945	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9958069	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9958525	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9964163	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9966470	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
5	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
6	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
7	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
8	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
9	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
10	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12607378	TUBB6	Cis_1M	lymphoblastoid	RTeQTL
rs12607378	TUBB6	cis	Whole Blood	GTEx
rs12607378	MC1R///TUBB3	trans	lymphoblastoid	RTeQTL
rs12607378	TUBB6	cis	multi-tissue	Pritchard

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12309600-12317800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr18:12310000-12318000	Weak transcription	Esophagus	oesophagus
3	chr18:12310000-12318200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:12310000-12324800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:12310000-12325800	Weak transcription	Fetal Kidney	kidney
6	chr18:12310200-12317600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr18:12310200-12319000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr18:12310200-12320400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr18:12310200-12324800	Weak transcription	HepG2	liver
10	chr18:12310600-12322800	Strong transcription	Placenta Amnion	Placenta Amnion
11	chr18:12311000-12323200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:12311000-12324800	Weak transcription	Spleen	Spleen
13	chr18:12311600-12318400	Genic enhancers	Muscle Satellite Cultured Cells	--
14	chr18:12312600-12317600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr18:12312600-12319000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:12312600-12320400	Weak transcription	Brain Angular Gyrus	brain
17	chr18:12312600-12325000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr18:12312600-12332600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr18:12312800-12317600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:12312800-12317600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr18:12312800-12324800	Weak transcription	Colonic Mucosa	Colon
22	chr18:12312800-12324800	Weak transcription	Fetal Brain Female	brain
23	chr18:12313000-12317400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr18:12313000-12319000	Enhancers	Fetal Heart	heart
25	chr18:12313000-12319000	Strong transcription	A549	lung
26	chr18:12313000-12320800	Weak transcription	Fetal Intestine Small	intestine
27	chr18:12313200-12318600	Genic enhancers	NHDF-Ad	bronchial
28	chr18:12313200-12320400	Weak transcription	Liver	Liver
29	chr18:12313400-12317600	Weak transcription	Fetal Thymus	thymus
30	chr18:12313400-12318000	Strong transcription	Hela-S3	cervix
31	chr18:12313400-12318200	Genic enhancers	Osteobl	bone
32	chr18:12313400-12319600	Genic enhancers	Fetal Muscle Leg	muscle
33	chr18:12313600-12318000	Weak transcription	Brain Hippocampus Middle	brain
34	chr18:12314000-12318000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr18:12314000-12333600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr18:12314200-12319000	Enhancers	Rectal Smooth Muscle	rectum
37	chr18:12314200-12323000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr18:12314200-12327800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr18:12314400-12342600	Weak transcription	Small Intestine	intestine
40	chr18:12314600-12324400	Weak transcription	Brain Germinal Matrix	brain
41	chr18:12314800-12317200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr18:12314800-12320600	Weak transcription	Fetal Intestine Large	intestine
43	chr18:12315000-12317200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr18:12315000-12317400	Strong transcription	NH-A	brain
45	chr18:12315200-12319200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr18:12315400-12317000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr18:12315400-12318800	Genic enhancers	Fetal Muscle Trunk	muscle
48	chr18:12315400-12318800	Genic enhancers	Fetal Stomach	stomach
49	chr18:12315600-12324800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr18:12315800-12317600	Genic enhancers	Adipose Nuclei	Adipose

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