Variant report

Variant	rs7232191
Chromosome Location	chr18:12864913-12864914
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12862494..12865307-chr18:12880258..12883236,3	MCF-7	breast:
2	chr18:12864698..12866636-chr18:12882765..12884603,2	MCF-7	breast:
3	chr18:12864148..12865735-chr18:12882867..12885303,2	K562	blood:

Variant related genes	Relation type
ENSG00000175354	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16939913	0.81[YRI][hapmap]
rs16939922	1.00[AMR][1000 genomes]
rs57491167	1.00[AMR][1000 genomes]
rs6505767	1.00[ASW][hapmap]
rs7236539	0.85[YRI][hapmap]
rs73404475	0.90[AMR][1000 genomes]
rs8084146	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8084203	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8085013	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8091049	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
4	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12838800-12879000	Weak transcription	Psoas Muscle	Psoas
2	chr18:12844200-12879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr18:12857400-12872000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:12857800-12866200	Weak transcription	HSMMtube	muscle
5	chr18:12857800-12867600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr18:12857800-12881600	Weak transcription	Fetal Stomach	stomach
7	chr18:12858000-12872600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:12858600-12867400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr18:12859600-12867000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr18:12859600-12876800	Weak transcription	Primary T cells from cord blood	blood
11	chr18:12859800-12866600	Enhancers	Dnd41	blood
12	chr18:12861400-12865200	Enhancers	Fetal Lung	lung
13	chr18:12861600-12865000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr18:12861800-12870000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr18:12861800-12872600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:12862200-12865800	Enhancers	Pancreas	Pancrea
17	chr18:12862800-12877000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr18:12863000-12865000	Weak transcription	K562	blood
19	chr18:12863000-12872200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr18:12863000-12879000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr18:12863000-12879200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr18:12863200-12865000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr18:12863200-12867800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr18:12863200-12879000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr18:12863200-12879800	Weak transcription	Hela-S3	cervix
26	chr18:12863200-12880200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr18:12863400-12868200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr18:12863400-12872400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr18:12863400-12875400	Weak transcription	HepG2	liver
30	chr18:12863400-12875800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr18:12863400-12879200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:12863400-12879800	Weak transcription	NHEK	skin
33	chr18:12863400-12881400	Weak transcription	Right Atrium	heart
34	chr18:12863600-12865200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr18:12863600-12872000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr18:12863600-12872200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr18:12863600-12875600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr18:12863600-12876200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr18:12863600-12880000	Weak transcription	Esophagus	oesophagus
40	chr18:12863600-12882000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr18:12863800-12865000	Weak transcription	Fetal Thymus	thymus
42	chr18:12863800-12865200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr18:12863800-12867600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr18:12863800-12867600	Weak transcription	Thymus	Thymus
45	chr18:12863800-12867600	Weak transcription	GM12878-XiMat	blood
46	chr18:12863800-12868600	Weak transcription	Fetal Intestine Small	intestine
47	chr18:12863800-12871800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr18:12863800-12872200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr18:12863800-12872200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr18:12863800-12875600	Weak transcription	Primary B cells from peripheral blood	blood

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