Variant report

Variant	rs7181678
Chromosome Location	chr15:59665929-59665930
allele	A/G
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	POLR2A	chr15:59660865-59666082	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr15:59663366-59667532	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr15:59665916-59666116	MCF10A-Er-Src	breast:	n/a	n/a
4	MXI1	chr15:59663655-59665959	SK-N-SH	brain:	n/a	chr15:59664434-59664449
5	MAX	chr15:59663473-59665951	A549	lung:	n/a	chr15:59664162-59664172 chr15:59664349-59664358 chr15:59664440-59664449 chr15:59664104-59664114
6	HCFC1	chr15:59664168-59665993	Hela-S3	cervix:	n/a	n/a
7	MXI1	chr15:59662993-59665996	IMR90	lung:	n/a	chr15:59664434-59664449
8	POLR2A	chr15:59664440-59666132	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59518511..59521491-chr15:59664302..59666468,2	MCF-7	breast:
2	chr15:59665232..59666166-chr5:36875918..36876809,2	Hela-S3	cervix:

Variant related genes	Relation type
MYO1E	TF binding region
ENSG00000157483	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10851651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12437549	1.00[EUR][1000 genomes]
rs12898613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4774330	1.00[EUR][1000 genomes]
rs7174510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7179318	1.00[EUR][1000 genomes]
rs7181443	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv934082	chr15:59608605-59733211	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv457175	chr15:59609753-59681214	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv569603	chr15:59609753-59681214	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv471246	chr15:59610743-59681214	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv904274	chr15:59623576-59689378	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv904275	chr15:59648633-59726610	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
8	nsv904276	chr15:59648633-59743010	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59662000-59666000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr15:59662600-59666000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr15:59662600-59666000	Active TSS	Rectal Smooth Muscle	rectum
4	chr15:59662600-59666200	Active TSS	Colonic Mucosa	Colon
5	chr15:59662600-59666600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr15:59662600-59667600	Active TSS	GM12878-XiMat	blood
7	chr15:59662800-59666000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:59662800-59666000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr15:59662800-59666200	Active TSS	Fetal Intestine Small	intestine
10	chr15:59663000-59666000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr15:59663000-59666000	Active TSS	Aorta	Aorta
12	chr15:59663000-59666200	Active TSS	Duodenum Mucosa	Duodenum
13	chr15:59663200-59666000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:59663400-59666000	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr15:59663400-59666000	Active TSS	Ovary	ovary
16	chr15:59663400-59666000	Active TSS	HMEC	breast
17	chr15:59663600-59666000	Active TSS	H1 Cell Line	embryonic stem cell
18	chr15:59663600-59666000	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr15:59663600-59666000	Active TSS	Colon Smooth Muscle	Colon
20	chr15:59663600-59666200	Active TSS	Pancreas	Pancrea
21	chr15:59663600-59666200	Active TSS	Hela-S3	cervix
22	chr15:59663800-59666000	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr15:59663800-59666000	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr15:59663800-59666000	Active TSS	Liver	Liver
25	chr15:59663800-59666400	Active TSS	A549	lung
26	chr15:59664000-59666000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:59664000-59666000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:59664000-59666200	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr15:59664000-59666200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:59664000-59666200	Active TSS	Stomach Smooth Muscle	stomach
31	chr15:59664600-59666000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr15:59664600-59666000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr15:59664600-59666000	Active TSS	Fetal Stomach	stomach
34	chr15:59665000-59666000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:59665200-59666000	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr15:59665400-59666800	Weak transcription	Stomach Mucosa	stomach
37	chr15:59665400-59667000	Enhancers	Small Intestine	intestine
38	chr15:59665400-59667400	Weak transcription	Gastric	stomach
39	chr15:59665600-59666000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr15:59665600-59666000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:59665600-59666000	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
42	chr15:59665600-59666000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr15:59665600-59666000	Flanking Active TSS	Psoas Muscle	Psoas
44	chr15:59665600-59666200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:59665600-59666400	Weak transcription	Fetal Heart	heart
46	chr15:59665600-59666400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr15:59665800-59666000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr15:59665800-59666000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:59665800-59666000	Active TSS	Fetal Intestine Large	intestine
50	chr15:59665800-59666000	Flanking Active TSS	Fetal Lung	lung

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