Variant report

Variant	rs8042198
Chromosome Location	chr15:31213438-31213439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr15:31213372-31214982	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
FAN1	TF binding region

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11855516	1.00[AMR][1000 genomes]
rs11856775	1.00[AMR][1000 genomes]
rs11858651	1.00[AMR][1000 genomes]
rs11858680	1.00[AMR][1000 genomes]
rs2625800	1.00[AMR][1000 genomes]
rs28583796	1.00[AMR][1000 genomes]
rs28607120	1.00[AMR][1000 genomes]
rs28623378	1.00[AMR][1000 genomes]
rs28770770	1.00[AMR][1000 genomes]
rs28809782	1.00[AMR][1000 genomes]
rs55749458	1.00[AMR][1000 genomes]
rs55896057	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56310450	1.00[AMR][1000 genomes]
rs56408018	1.00[AMR][1000 genomes]
rs57499412	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57551901	1.00[AMR][1000 genomes]
rs57661317	1.00[AMR][1000 genomes]
rs58522856	1.00[AMR][1000 genomes]
rs59803232	1.00[AMR][1000 genomes]
rs60002525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60084176	1.00[AMR][1000 genomes]
rs60718659	1.00[AMR][1000 genomes]
rs60765564	1.00[AMR][1000 genomes]
rs61009284	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61080715	1.00[AMR][1000 genomes]
rs61439612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61528441	1.00[AMR][1000 genomes]
rs61599827	1.00[AMR][1000 genomes]
rs61701824	1.00[AMR][1000 genomes]
rs7163814	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7165699	1.00[AMR][1000 genomes]
rs7169444	1.00[AMR][1000 genomes]
rs7169542	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7170006	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7175397	1.00[AMR][1000 genomes]
rs7182086	1.00[AMR][1000 genomes]
rs7182655	1.00[AMR][1000 genomes]
rs73366503	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73366549	1.00[AMR][1000 genomes]
rs73366561	1.00[AMR][1000 genomes]
rs73366569	1.00[AMR][1000 genomes]
rs73366598	1.00[AMR][1000 genomes]
rs73368419	1.00[AMR][1000 genomes]
rs73368457	1.00[AMR][1000 genomes]
rs73377277	1.00[AMR][1000 genomes]
rs73377279	1.00[AMR][1000 genomes]
rs73377286	1.00[AMR][1000 genomes]
rs73377300	1.00[AMR][1000 genomes]
rs73379134	1.00[AMR][1000 genomes]
rs73379138	1.00[AMR][1000 genomes]
rs73379150	1.00[AMR][1000 genomes]
rs73379190	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73381335	1.00[AMR][1000 genomes]
rs73381337	1.00[AMR][1000 genomes]
rs73381339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73381351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73381363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74009242	1.00[AMR][1000 genomes]
rs74012716	1.00[AMR][1000 genomes]
rs8028459	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8029314	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8033175	1.00[AMR][1000 genomes]
rs9783686	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427955	chr15:30467980-31273174	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv531138	chr15:30653877-31609679	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv916936	chr15:30921917-31337510	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv525795	chr15:30936285-31324531	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv533434	chr15:30938215-31244225	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
7	nsv1046874	chr15:31008133-31294654	Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
9	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
10	nsv832951	chr15:31131239-31304469	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1039037	chr15:31140415-31277268	Strong transcription ZNF genes & repeats Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv542309	chr15:31140415-31277268	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS 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	8 gene(s)	inside rSNPs	diseases
13	nsv1036018	chr15:31140415-31544888	Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
14	nsv521842	chr15:31140700-31272670	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv903834	chr15:31179534-31293774	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS 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	27 gene(s)	inside rSNPs	diseases
16	esv33507	chr15:31183324-31471023	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
17	nsv832952	chr15:31204426-31333998	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31196800-31215000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:31197000-31216400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr15:31197200-31214000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:31197400-31215000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr15:31198200-31224000	Strong transcription	Dnd41	blood
6	chr15:31200200-31214400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:31200200-31224000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:31200400-31213800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:31200400-31216200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:31200400-31221200	Strong transcription	Placenta	Placenta
11	chr15:31200400-31223200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:31200400-31242200	Strong transcription	Primary T cells from cord blood	blood
13	chr15:31200600-31254800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr15:31200800-31213600	Strong transcription	Liver	Liver
15	chr15:31201200-31224000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr15:31201200-31241400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:31202400-31213800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:31202400-31214000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:31204200-31224000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr15:31204400-31214600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:31204400-31214800	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr15:31204400-31223200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr15:31204400-31223200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:31204400-31223400	Strong transcription	Fetal Stomach	stomach
25	chr15:31204400-31223600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr15:31204400-31224000	Strong transcription	Duodenum Mucosa	Duodenum
27	chr15:31204600-31223000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr15:31204600-31224000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr15:31205000-31224000	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr15:31206000-31223200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr15:31206200-31213800	Weak transcription	NHLF	lung
32	chr15:31206800-31223400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr15:31207400-31217600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
34	chr15:31207800-31214000	Weak transcription	Fetal Brain Male	brain
35	chr15:31208400-31216000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr15:31208400-31223800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr15:31208400-31224000	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr15:31208800-31213600	Weak transcription	Fetal Lung	lung
39	chr15:31209000-31223200	Strong transcription	Esophagus	oesophagus
40	chr15:31209000-31223200	Strong transcription	Fetal Intestine Small	intestine
41	chr15:31209000-31224000	Strong transcription	Ovary	ovary
42	chr15:31210400-31213800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr15:31210400-31213800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr15:31210400-31217600	Strong transcription	Hela-S3	cervix
45	chr15:31210400-31222800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr15:31210600-31223400	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr15:31211000-31214000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr15:31211200-31214000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr15:31211200-31214000	Weak transcription	A549	lung
50	chr15:31211200-31214400	Weak transcription	NHDF-Ad	bronchial

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