Variant report

Variant	rs7497749
Chromosome Location	chr15:74942759-74942760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:74941966..74943956-chr15:75052717..75054297,2	K562	blood:
2	chr15:74891909..74894036-chr15:74941132..74943134,2	K562	blood:
3	chr15:74940461..74943987-chr15:74987156..74990562,4	MCF-7	breast:
4	chr15:74934214..74936976-chr15:74941708..74943417,2	MCF-7	breast:
5	chr15:74942161..74945712-chr15:74946521..74950425,4	K562	blood:

Variant related genes	Relation type
ENSG00000179151	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11853859	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12439944	1.00[CEU][hapmap]
rs12593213	1.00[CEU][hapmap]
rs12593251	1.00[CEU][hapmap]
rs16972714	1.00[CEU][hapmap]
rs3743484	1.00[CEU][hapmap]
rs3803461	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3825943	1.00[CEU][hapmap]
rs56298217	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][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	esv1809847	chr15:74734500-74948063	Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv1812223	chr15:74869438-74948063	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv904379	chr15:74869438-75027880	Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	esv1814078	chr15:74884447-74948063	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv457204	chr15:74885091-74948063	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv569991	chr15:74885091-74948063	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv817698	chr15:74889163-75019449	Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74920800-74945600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr15:74921800-74963400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr15:74928800-74943600	Weak transcription	NHDF-Ad	bronchial
4	chr15:74929200-74963400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr15:74932800-74945600	Weak transcription	HMEC	breast
6	chr15:74933000-74956200	Weak transcription	A549	lung
7	chr15:74933200-74943600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr15:74933200-74943800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr15:74933200-74947400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr15:74933200-74963400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr15:74933400-74963200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:74933600-74945600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr15:74934000-74955800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr15:74934400-74962400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:74934800-74945600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr15:74935200-74943400	Weak transcription	Fetal Thymus	thymus
17	chr15:74935400-74945600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:74935400-74963400	Weak transcription	Aorta	Aorta
19	chr15:74935800-74943600	Weak transcription	Fetal Kidney	kidney
20	chr15:74936000-74943600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:74936000-74943600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr15:74936000-74945000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:74936000-74945600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:74936000-74945600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr15:74936000-74950200	Weak transcription	Gastric	stomach
26	chr15:74936000-74963000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr15:74936000-74968800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr15:74936200-74943400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr15:74936200-74943400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr15:74936200-74943400	Weak transcription	Brain Angular Gyrus	brain
31	chr15:74936200-74943400	Weak transcription	NH-A	brain
32	chr15:74936200-74945400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr15:74936200-74945600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr15:74936200-74945600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:74936200-74945600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:74936200-74945600	Weak transcription	Fetal Brain Male	brain
37	chr15:74936200-74945600	Weak transcription	Stomach Mucosa	stomach
38	chr15:74936200-74947800	Weak transcription	Ovary	ovary
39	chr15:74936200-74956200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr15:74936200-74956400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr15:74936200-74963000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr15:74936400-74945600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:74936400-74945600	Weak transcription	Osteobl	bone
44	chr15:74936400-74947400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr15:74936400-74956200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr15:74936600-74945400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:74936600-74946600	Weak transcription	Small Intestine	intestine
48	chr15:74936600-74956200	Weak transcription	Spleen	Spleen
49	chr15:74936800-74945600	Weak transcription	Fetal Lung	lung
50	chr15:74936800-74945600	Weak transcription	Right Atrium	heart

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