Variant report

Variant	rs7240157
Chromosome Location	chr18:12832748-12832749
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	chr18:12831862..12833432-chr18:12882707..12884621,2	MCF-7	breast:
2	chr18:12832742..12834944-chr18:12836470..12838046,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175354	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10468685	1.00[EUR][1000 genomes]
rs13381820	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16939851	1.00[EUR][1000 genomes]
rs16939913	1.00[EUR][1000 genomes]
rs2542173	1.00[EUR][1000 genomes]
rs28436108	1.00[EUR][1000 genomes]
rs2847263	1.00[EUR][1000 genomes]
rs2847264	1.00[EUR][1000 genomes]
rs28579212	1.00[EUR][1000 genomes]
rs57580816	1.00[EUR][1000 genomes]
rs58839955	1.00[EUR][1000 genomes]
rs59434054	1.00[EUR][1000 genomes]
rs61320647	1.00[EUR][1000 genomes]
rs7229440	1.00[EUR][1000 genomes]
rs7236539	1.00[EUR][1000 genomes]
rs73407719	1.00[EUR][1000 genomes]
rs73407722	1.00[EUR][1000 genomes]
rs73407750	1.00[EUR][1000 genomes]
rs73407763	1.00[EUR][1000 genomes]
rs73407884	1.00[EUR][1000 genomes]
rs73416976	1.00[EUR][1000 genomes]
rs73419110	1.00[EUR][1000 genomes]
rs8083404	1.00[EUR][1000 genomes]
rs8087452	1.00[EUR][1000 genomes]
rs8099254	1.00[EUR][1000 genomes]
rs908577	1.00[EUR][1000 genomes]
rs9946422	1.00[EUR][1000 genomes]
rs9951546	1.00[EUR][1000 genomes]
rs9953795	1.00[EUR][1000 genomes]
rs9958518	1.00[EUR][1000 genomes]
rs9964950	1.00[EUR][1000 genomes]
rs9965936	1.00[EUR][1000 genomes]
rs9966740	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers 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	36 gene(s)	inside rSNPs	diseases
3	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12777800-12838200	Weak transcription	Colonic Mucosa	Colon
2	chr18:12791400-12837000	Weak transcription	NHDF-Ad	bronchial
3	chr18:12802000-12842400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr18:12807200-12842400	Weak transcription	Fetal Heart	heart
5	chr18:12809600-12833200	Weak transcription	HSMM	muscle
6	chr18:12809600-12838200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr18:12809600-12838200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr18:12812000-12838400	Weak transcription	Right Ventricle	heart
9	chr18:12814400-12843400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:12817400-12833400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr18:12817800-12837600	Weak transcription	NH-A	brain
12	chr18:12820000-12836400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr18:12820400-12838600	Weak transcription	Brain Angular Gyrus	brain
14	chr18:12820800-12837600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr18:12820800-12838200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr18:12820800-12838200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr18:12821000-12833400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr18:12821000-12840400	Weak transcription	Brain Substantia Nigra	brain
19	chr18:12821400-12834000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr18:12821400-12836800	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr18:12821600-12839200	Weak transcription	Brain Anterior Caudate	brain
22	chr18:12821800-12851800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr18:12822800-12833400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr18:12823000-12837600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr18:12823400-12836200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr18:12824200-12835000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr18:12825400-12833000	Weak transcription	HSMMtube	muscle
28	chr18:12825400-12838200	Weak transcription	Gastric	stomach
29	chr18:12825400-12840400	Weak transcription	Spleen	Spleen
30	chr18:12825600-12838200	Weak transcription	Aorta	Aorta
31	chr18:12825600-12838200	Weak transcription	K562	blood
32	chr18:12826000-12838400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr18:12826400-12837800	Weak transcription	Fetal Brain Male	brain
34	chr18:12826800-12838200	Weak transcription	Pancreas	Pancrea
35	chr18:12827200-12836600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr18:12827600-12833400	Weak transcription	Left Ventricle	heart
37	chr18:12827600-12838200	Weak transcription	Esophagus	oesophagus
38	chr18:12827600-12838200	Weak transcription	Small Intestine	intestine
39	chr18:12827600-12838400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:12827600-12843400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr18:12827800-12836200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr18:12828200-12833200	Weak transcription	Colon Smooth Muscle	Colon
43	chr18:12828400-12833200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr18:12828400-12834000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr18:12828400-12836600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr18:12828400-12836600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr18:12828400-12837600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr18:12828400-12837600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr18:12828400-12842600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr18:12828400-12856000	Weak transcription	Fetal Kidney	kidney

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