Variant report

Variant	rs7177678
Chromosome Location	chr15:58959621-58959622
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	FOSL2	chr15:58959039-58959640	A549	lung:	n/a	chr15:58959343-58959353 chr15:58959344-58959352 chr15:58959340-58959351 chr15:58959345-58959352
2	MAFK	chr15:58959616-58959659	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF12	chr15:58959062-58959753	A549	lung:	n/a	n/a
4	POLR2A	chr15:58959254-58959688	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:58953177..58955880-chr15:58958454..58961862,3	K562	blood:
2	chr15:58958405..58960158-chr15:58960218..58962844,2	MCF-7	breast:
3	chr15:58957306..58961861-chr15:58967060..58970416,4	K562	blood:
4	chr15:58949134..58952311-chr15:58956735..58961509,4	K562	blood:
5	chr15:58959008..58961763-chr15:58963675..58966633,2	K562	blood:

Variant related genes	Relation type
ENSG00000270986	TF binding region
ENSG00000270986	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11854073	0.84[ASW][hapmap];0.83[GIH][hapmap]
rs1427281	0.95[CEU][hapmap];0.87[GIH][hapmap];0.84[MEX][hapmap];0.80[AMR][1000 genomes]
rs28864995	0.84[ASW][hapmap];0.91[CEU][hapmap];0.87[GIH][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs347117	0.83[GIH][hapmap]
rs383902	0.83[GIH][hapmap]
rs4775086	0.85[ASW][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4775087	0.83[GIH][hapmap]
rs514049	0.81[MKK][hapmap]
rs653765	0.83[GIH][hapmap]
rs714696	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7161889	0.83[GIH][hapmap]
rs7183336	0.91[CEU][hapmap]
rs8032140	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs972801	0.84[ASW][hapmap];0.91[CEU][hapmap];0.85[GIH][hapmap];0.80[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv904269	chr15:58906145-58992591	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv569602	chr15:58914326-58964437	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv518097	chr15:58959273-58964931	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58905000-58983200	Weak transcription	Esophagus	oesophagus
2	chr15:58905400-58971800	Weak transcription	Spleen	Spleen
3	chr15:58905600-58976400	Weak transcription	Gastric	stomach
4	chr15:58906400-58976400	Weak transcription	Small Intestine	intestine
5	chr15:58921200-58968400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr15:58921600-58976600	Weak transcription	Right Ventricle	heart
7	chr15:58921800-58970400	Weak transcription	Stomach Mucosa	stomach
8	chr15:58923400-58971800	Weak transcription	Pancreas	Pancrea
9	chr15:58923400-58982800	Weak transcription	Lung	lung
10	chr15:58924000-58960000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:58933000-58987000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr15:58934200-58976400	Weak transcription	Psoas Muscle	Psoas
13	chr15:58936000-58977000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr15:58936200-58991400	Weak transcription	HMEC	breast
15	chr15:58947800-58971800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:58947800-58976400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr15:58949400-58976400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr15:58951200-58987000	Weak transcription	NHEK	skin
19	chr15:58951600-58961400	Weak transcription	Fetal Lung	lung
20	chr15:58951600-58976400	Weak transcription	GM12878-XiMat	blood
21	chr15:58951600-58981800	Weak transcription	Fetal Brain Male	brain
22	chr15:58951800-58960200	Weak transcription	Fetal Heart	heart
23	chr15:58952600-58960600	Weak transcription	Fetal Intestine Small	intestine
24	chr15:58955000-58971800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:58955200-58971800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:58955200-58971800	Weak transcription	Fetal Muscle Leg	muscle
27	chr15:58955200-58971800	Weak transcription	Fetal Stomach	stomach
28	chr15:58955200-58971800	Weak transcription	Left Ventricle	heart
29	chr15:58955200-58976400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr15:58955200-58988400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr15:58955400-58971200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:58955400-58976200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr15:58955800-58970800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr15:58955800-58972000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:58956400-58960800	Weak transcription	Fetal Intestine Large	intestine
36	chr15:58956400-58967800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr15:58956600-58960000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr15:58956600-58961400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr15:58956600-58967800	Weak transcription	Fetal Kidney	kidney
40	chr15:58956600-58974800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr15:58956600-58974800	Weak transcription	Adipose Nuclei	Adipose
42	chr15:58956600-58984400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr15:58956600-58984600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:58956600-58987400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr15:58956800-58960000	Weak transcription	Primary B cells from cord blood	blood
46	chr15:58956800-58974200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr15:58956800-58980000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr15:58956800-58982000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr15:58957000-58961400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr15:58957000-58966400	Weak transcription	HepG2	liver

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