Variant report

Variant	rs12118313
Chromosome Location	chr1:161037979-161037980
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161013921..161016040-chr1:161036662..161039623,2	MCF-7	breast:
2	chr1:160991301..160993466-chr1:161036693..161038459,2	K562	blood:
3	chr1:161035244..161038070-chr1:161039157..161043697,5	MCF-7	breast:
4	chr1:161030433..161032581-chr1:161036169..161038406,2	MCF-7	breast:
5	chr1:160969057..160971514-chr1:161037864..161040165,2	K562	blood:
6	chr1:161037367..161040150-chr1:161043095..161044825,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158769	Chromatin interaction
ENSG00000143217	Chromatin interaction
ENSG00000186517	Chromatin interaction
ENSG00000158773	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10797092	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6662441	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6671492	0.93[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv3221	chr1:161008175-161052979	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12118313	F11R	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161021600-161038400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:161024800-161038200	Weak transcription	Lung	lung
3	chr1:161026400-161039600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:161029800-161038000	Weak transcription	Stomach Mucosa	stomach
5	chr1:161030000-161046200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:161035000-161038400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:161035800-161038000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
8	chr1:161036000-161038000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr1:161036000-161038000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr1:161036000-161038200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr1:161036400-161038200	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr1:161036600-161039600	Active TSS	Rectal Smooth Muscle	rectum
13	chr1:161036600-161040200	Enhancers	K562	blood
14	chr1:161036800-161038000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr1:161036800-161038600	Enhancers	Spleen	Spleen
16	chr1:161036800-161040200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr1:161037000-161038200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr1:161037000-161038200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr1:161037000-161038400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:161037200-161038400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:161037200-161038800	Flanking Active TSS	Dnd41	blood
22	chr1:161037400-161038000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr1:161037400-161038000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:161037400-161038000	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:161037400-161038200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr1:161037400-161038200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:161037400-161038200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:161037400-161039000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
29	chr1:161037400-161040200	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr1:161037400-161040200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr1:161037400-161040200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:161037600-161038000	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
33	chr1:161037600-161038000	Transcr. at gene 5' and 3'	Thymus	Thymus
34	chr1:161037600-161038200	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr1:161037600-161038200	Active TSS	Right Atrium	heart
36	chr1:161037600-161038400	Genic enhancers	Placenta	Placenta
37	chr1:161037600-161039600	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr1:161037600-161040200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:161037800-161038000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr1:161037800-161038000	Flanking Active TSS	GM12878-XiMat	blood
41	chr1:161037800-161038200	Transcr. at gene 5' and 3'	Esophagus	oesophagus
42	chr1:161037800-161038600	Active TSS	Colonic Mucosa	Colon
43	chr1:161037800-161038600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr1:161037800-161038800	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr1:161037800-161039200	Active TSS	Adipose Nuclei	Adipose
46	chr1:161037800-161039200	Flanking Active TSS	Fetal Thymus	thymus
47	chr1:161037800-161039600	Active TSS	Monocytes-CD14+_RO01746	blood
48	chr1:161037800-161039800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:161037800-161039800	Active TSS	Skeletal Muscle Female	skeletal muscle

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