Variant report

Variant	rs7162308
Chromosome Location	chr15:40893221-40893222
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40886701..40889426-chr15:40891344..40893759,6	K562	blood:
2	chr15:40892966..40895127-chr15:40895336..40897665,2	MCF-7	breast:
3	chr15:40884775..40889412-chr15:40891344..40893699,4	K562	blood:
4	chr15:40891684..40893459-chr15:40895042..40898185,3	K562	blood:

Variant related genes	Relation type
ENSG00000137812	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs14363	1.00[EUR][1000 genomes]
rs55984256	1.00[EUR][1000 genomes]
rs56010221	1.00[EUR][1000 genomes]
rs56020318	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56908156	1.00[EUR][1000 genomes]
rs57134155	1.00[EUR][1000 genomes]
rs58042425	1.00[EUR][1000 genomes]
rs58101670	0.85[AFR][1000 genomes]
rs58870954	1.00[EUR][1000 genomes]
rs58903833	1.00[EUR][1000 genomes]
rs59204074	1.00[AMR][1000 genomes]
rs60163307	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61579851	1.00[EUR][1000 genomes]
rs61678895	1.00[EUR][1000 genomes]
rs6492943	1.00[EUR][1000 genomes]
rs6492946	1.00[EUR][1000 genomes]
rs6492948	1.00[EUR][1000 genomes]
rs6492949	1.00[EUR][1000 genomes]
rs7162253	1.00[AMR][1000 genomes]
rs7164094	1.00[EUR][1000 genomes]
rs7165233	1.00[EUR][1000 genomes]
rs7165670	1.00[EUR][1000 genomes]
rs7167831	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7168197	1.00[EUR][1000 genomes]
rs7168217	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7173079	1.00[EUR][1000 genomes]
rs7175153	1.00[EUR][1000 genomes]
rs7176418	1.00[EUR][1000 genomes]
rs7178058	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7182052	1.00[EUR][1000 genomes]
rs73383123	1.00[EUR][1000 genomes]
rs73383129	1.00[EUR][1000 genomes]
rs73385108	1.00[EUR][1000 genomes]
rs73385110	1.00[EUR][1000 genomes]
rs73385112	1.00[EUR][1000 genomes]
rs73385114	1.00[EUR][1000 genomes]
rs74011172	1.00[EUR][1000 genomes]
rs74011173	1.00[EUR][1000 genomes]
rs74011174	1.00[EUR][1000 genomes]
rs74011933	1.00[AMR][1000 genomes]
rs74011936	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8025846	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8030491	0.95[AFR][1000 genomes]
rs8033915	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8034169	1.00[EUR][1000 genomes]
rs8037717	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8037881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8038243	1.00[EUR][1000 genomes]
rs8039169	1.00[AMR][1000 genomes]
rs8039298	1.00[EUR][1000 genomes]
rs8040231	1.00[EUR][1000 genomes]
rs9672224	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9672893	1.00[EUR][1000 genomes]
rs9744142	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv2758378	chr15:40832545-40995111	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv2760026	chr15:40832545-40995111	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40887200-40898800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:40887600-40898800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr15:40887600-40902600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr15:40887600-40941800	Weak transcription	Fetal Intestine Large	intestine
5	chr15:40887800-40895400	Weak transcription	Fetal Muscle Leg	muscle
6	chr15:40887800-40898800	Weak transcription	Fetal Stomach	stomach
7	chr15:40887800-40902000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:40887800-40933200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr15:40887800-40942200	Weak transcription	Primary B cells from cord blood	blood
10	chr15:40887800-40948200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:40887800-40961600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr15:40888000-40895000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr15:40888000-40895800	Weak transcription	Thymus	Thymus
14	chr15:40888000-40897800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr15:40888000-40898000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr15:40888000-40898600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:40888000-40899400	Weak transcription	HSMM	muscle
18	chr15:40888000-40901200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr15:40888000-40903400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr15:40888000-40956000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr15:40888200-40897800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:40888200-40898600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr15:40888200-40898800	Weak transcription	NH-A	brain
24	chr15:40888200-40902200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr15:40888200-40912800	Weak transcription	HMEC	breast
26	chr15:40888400-40895800	Weak transcription	Fetal Thymus	thymus
27	chr15:40888400-40897800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:40888400-40898000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr15:40888400-40898200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:40888400-40898800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:40888400-40898800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:40888400-40898800	Weak transcription	Fetal Intestine Small	intestine
33	chr15:40888400-40899800	Weak transcription	HUVEC	blood vessel
34	chr15:40888400-40900800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr15:40888400-40913200	Weak transcription	NHDF-Ad	bronchial
36	chr15:40888400-40913600	Weak transcription	NHLF	lung
37	chr15:40888400-40923200	Weak transcription	Osteobl	bone
38	chr15:40888400-40925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:40888400-40944200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:40889600-40895200	Weak transcription	Hela-S3	cervix
41	chr15:40889600-40898000	Weak transcription	K562	blood
42	chr15:40889600-40901400	Weak transcription	HepG2	liver
43	chr15:40890800-40895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:40890800-40895600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:40890800-40898000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:40890800-40899000	Weak transcription	NHEK	skin
47	chr15:40890800-40904800	Weak transcription	A549	lung
48	chr15:40890800-40925200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr15:40892800-40893400	Enhancers	Fetal Heart	heart
50	chr15:40893000-40893400	ZNF genes & repeats	GM12878-XiMat	blood

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