Variant report

Variant	rs1168641
Chromosome Location	chr12:66608277-66608278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66564516..66566525-chr12:66607365..66609026,2	K562	blood:
2	chr12:66562009..66565017-chr12:66607672..66610931,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155957	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1152906	0.82[EUR][1000 genomes]
rs1152908	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1152909	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1168642	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1168643	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1168644	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1168647	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1168648	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1168762	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168771	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1370127	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1370128	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1623665	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1624395	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1732877	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv541517	chr12:66576953-66639823	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription 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	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1168641	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66583800-66623400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:66589600-66623400	Weak transcription	Spleen	Spleen
3	chr12:66592400-66628400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:66593400-66613400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:66597600-66623400	Weak transcription	Aorta	Aorta
6	chr12:66597800-66609000	Weak transcription	Stomach Mucosa	stomach
7	chr12:66599000-66608800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:66604000-66620200	Weak transcription	Lung	lung
9	chr12:66604400-66628800	Weak transcription	Right Ventricle	heart
10	chr12:66604800-66609000	Strong transcription	Left Ventricle	heart
11	chr12:66604800-66610600	Strong transcription	Fetal Lung	lung
12	chr12:66605200-66628800	Weak transcription	Psoas Muscle	Psoas
13	chr12:66605400-66609000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:66605400-66628200	Weak transcription	NHDF-Ad	bronchial
15	chr12:66605600-66611400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:66606000-66609200	Strong transcription	Primary hematopoietic stem cells	blood
17	chr12:66606000-66610400	Weak transcription	Primary B cells from cord blood	blood
18	chr12:66606200-66608800	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr12:66606200-66609400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr12:66606200-66609800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr12:66606200-66610600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:66606400-66620000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:66606800-66611600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:66606800-66612400	Weak transcription	Adipose Nuclei	Adipose
25	chr12:66606800-66623000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:66606800-66625800	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:66607000-66611200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:66607200-66611000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:66607800-66609000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:66608000-66609400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:66608000-66611000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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