Variant report

Variant	rs28637695
Chromosome Location	chr12:121959927-121959928
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121958031..121962041-chr12:121975290..121977508,3	MCF-7	breast:
2	chr12:121958437..121960268-chr12:121962463..121965100,2	MCF-7	breast:
3	chr12:121957217..121960206-chr12:122075609..122077244,2	K562	blood:
4	chr12:121959310..121962414-chr12:121967014..121969071,3	MCF-7	breast:
5	chr12:121955418..121960575-chr12:121960736..121964732,5	K562	blood:
6	chr12:121956591..121958416-chr12:121958479..121960650,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089094	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28387040	0.98[ASN][1000 genomes]
rs28508242	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28617424	0.97[ASN][1000 genomes]
rs28620034	0.97[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61667355	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560457	chr12:121956483-121976176	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28637695	FBXL10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121928600-121965800	Weak transcription	Hela-S3	cervix
2	chr12:121932000-121974400	Weak transcription	NHEK	skin
3	chr12:121934800-121968200	Weak transcription	Small Intestine	intestine
4	chr12:121938200-121968600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:121938200-121971000	Weak transcription	Stomach Mucosa	stomach
6	chr12:121938200-121973800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:121938400-121968600	Weak transcription	Fetal Kidney	kidney
8	chr12:121938400-121973600	Weak transcription	Psoas Muscle	Psoas
9	chr12:121938800-121968600	Weak transcription	Right Atrium	heart
10	chr12:121938800-121970600	Weak transcription	Fetal Brain Male	brain
11	chr12:121939200-121961600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:121939800-121961000	Weak transcription	Colonic Mucosa	Colon
13	chr12:121943800-121968600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:121944000-121968400	Weak transcription	Osteobl	bone
15	chr12:121947600-121968200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:121947800-121968800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:121947800-121969400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:121947800-121973400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:121948000-121960600	Weak transcription	Brain Substantia Nigra	brain
20	chr12:121948000-121968400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:121948200-121973600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:121950200-121973800	Weak transcription	HSMMtube	muscle
23	chr12:121952400-121960600	Weak transcription	Brain Anterior Caudate	brain
24	chr12:121952400-121968400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:121952600-121968200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:121952600-121968600	Weak transcription	A549	lung
27	chr12:121953400-121961200	Strong transcription	Fetal Stomach	stomach
28	chr12:121953400-121970600	Strong transcription	Fetal Intestine Small	intestine
29	chr12:121953600-121963000	Strong transcription	Primary T cells from cord blood	blood
30	chr12:121954000-121967800	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:121954200-121964400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:121954200-121964800	Strong transcription	Thymus	Thymus
33	chr12:121954600-121964800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:121956000-121961000	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:121956000-121964600	Strong transcription	Dnd41	blood
36	chr12:121956200-121962200	Strong transcription	Fetal Intestine Large	intestine
37	chr12:121956200-121963600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:121956200-121964400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:121956200-121964400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:121956400-121963800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:121956400-121964400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr12:121956600-121961000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr12:121957000-121960000	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:121957000-121960800	Genic enhancers	GM12878-XiMat	blood
45	chr12:121957400-121968600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:121957400-121973200	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:121957600-121961000	Weak transcription	NHDF-Ad	bronchial
48	chr12:121957600-121962000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:121957600-121969200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:121957800-121965800	Weak transcription	Fetal Lung	lung

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