Variant report

Variant	rs17453602
Chromosome Location	chr8:118999298-118999299
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118998954..119002808-chr8:119123412..119126433,4	MCF-7	breast:
2	chr8:118990513..118994843-chr8:118997898..119000699,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11562671	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11562687	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11562703	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11562737	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11562738	0.93[EUR][1000 genomes]
rs11562774	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11562775	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11562776	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11562821	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11562822	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11562823	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17430645	1.00[CEU][hapmap]
rs17430694	0.83[YRI][hapmap]
rs17430721	1.00[CEU][hapmap]
rs17430728	0.83[YRI][hapmap]
rs17430749	1.00[YRI][hapmap]
rs17430755	1.00[CEU][hapmap]
rs17430819	1.00[CEU][hapmap]
rs17430930	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17430965	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17431118	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17431152	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17431166	1.00[CEU][hapmap]
rs17431208	1.00[CEU][hapmap]
rs17431215	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17431249	1.00[CEU][hapmap]
rs17453105	1.00[CEU][hapmap]
rs17453344	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17453357	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17453448	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17453560	1.00[CEU][hapmap]
rs17453567	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17453651	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17453672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17475659	0.85[YRI][hapmap]
rs17475666	1.00[YRI][hapmap]
rs17475673	1.00[YRI][hapmap]
rs17475687	0.85[YRI][hapmap]
rs17475694	0.85[YRI][hapmap]
rs17475722	0.85[YRI][hapmap]
rs17475743	0.85[YRI][hapmap]
rs17475785	0.85[YRI][hapmap]
rs17475946	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17476226	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17476233	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17476254	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17476282	0.83[YRI][hapmap];0.93[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17476296	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17504490	0.85[YRI][hapmap]
rs17504568	0.85[YRI][hapmap]
rs17504631	1.00[YRI][hapmap]
rs17504988	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2086008	0.82[YRI][hapmap]
rs28357284	1.00[CEU][hapmap]
rs4480147	0.80[EUR][1000 genomes]
rs57858101	1.00[EUR][1000 genomes]
rs59628055	0.87[EUR][1000 genomes]
rs60822517	0.87[EUR][1000 genomes]
rs61601333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7004615	0.80[EUR][1000 genomes]
rs7843728	1.00[CEU][hapmap]
rs7843780	1.00[CEU][hapmap]
rs7844054	1.00[CEU][hapmap]
rs7844255	1.00[CEU][hapmap]

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	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118983600-119000800	Weak transcription	Pancreas	Pancrea
2	chr8:118989400-119000000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:118990000-119000800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:118991200-119004800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:118992800-119001400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:118992800-119001800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:118992800-119007600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:118993200-118999600	Weak transcription	Esophagus	oesophagus
9	chr8:118993200-119000600	Weak transcription	Right Ventricle	heart
10	chr8:118993200-119000800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:118993200-119000800	Weak transcription	Spleen	Spleen
12	chr8:118993200-119001400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:118993200-119012600	Weak transcription	Fetal Brain Male	brain
14	chr8:118993600-119000600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:118993600-119001400	Weak transcription	HSMMtube	muscle
16	chr8:118993800-119000600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:118993800-119001600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:118994000-118999400	Weak transcription	Placenta	Placenta
19	chr8:118994000-119001000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:118994000-119001400	Weak transcription	Brain Anterior Caudate	brain
21	chr8:118994000-119001400	Weak transcription	Fetal Intestine Large	intestine
22	chr8:118994000-119005800	Weak transcription	Psoas Muscle	Psoas
23	chr8:118994000-119031000	Weak transcription	Primary T cells from cord blood	blood
24	chr8:118994200-119000800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:118994200-119000800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:118994200-119004200	Weak transcription	Fetal Stomach	stomach
27	chr8:118994400-118999600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:118994600-119001400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:118994600-119001800	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:118994600-119002000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:118994800-118999600	Weak transcription	Left Ventricle	heart
32	chr8:118995600-119000800	Enhancers	Liver	Liver
33	chr8:118996400-119000200	Weak transcription	Ovary	ovary
34	chr8:118996600-119001200	Enhancers	HepG2	liver
35	chr8:118997000-119000200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:118997000-119000600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:118997200-119000800	Weak transcription	Lung	lung
38	chr8:118997800-118999600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:118997800-119000600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:118997800-119000600	Weak transcription	Right Atrium	heart
41	chr8:118997800-119000600	Weak transcription	Small Intestine	intestine
42	chr8:118997800-119000800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:118997800-119000800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr8:118997800-119000800	Weak transcription	Aorta	Aorta
45	chr8:118997800-119000800	Weak transcription	Gastric	stomach
46	chr8:118997800-119001400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:118997800-119001400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:118997800-119001400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr8:118997800-119001400	Weak transcription	Fetal Intestine Small	intestine
50	chr8:118997800-119001400	Weak transcription	Stomach Mucosa	stomach

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