Variant report

Variant	rs4741418
Chromosome Location	chr9:14692202-14692203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14690708..14693231-chr9:14713433..14715842,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12000029	1.00[CHB][hapmap]
rs12005035	1.00[CHB][hapmap]
rs17215754	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs17216147	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17287927	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4457430	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57552216	0.82[EUR][1000 genomes]
rs60001745	0.82[EUR][1000 genomes]
rs62535363	0.82[EUR][1000 genomes]
rs62535367	0.81[EUR][1000 genomes]
rs62535368	0.81[EUR][1000 genomes]
rs62535388	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62538526	0.96[EUR][1000 genomes]
rs62539797	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7859680	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv831517	chr9:14512924-14738206	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS 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	11 gene(s)	inside rSNPs	diseases
5	esv3362157	chr9:14542189-14791977	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv892605	chr9:14585052-14709151	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv892606	chr9:14588049-14697022	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv892609	chr9:14589173-14694302	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS 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	4 gene(s)	inside rSNPs	diseases
9	esv2752921	chr9:14593749-14694372	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv892612	chr9:14654900-14694302	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv892613	chr9:14657139-14694302	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv6482	chr9:14673695-14718568	Enhancers Strong transcription ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1025566	chr9:14687088-14791199	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14631000-14692400	Weak transcription	HSMMtube	muscle
2	chr9:14634600-14692400	Weak transcription	Gastric	stomach
3	chr9:14634600-14692600	Weak transcription	Aorta	Aorta
4	chr9:14654200-14692600	Weak transcription	Pancreas	Pancrea
5	chr9:14656000-14692400	Weak transcription	Colonic Mucosa	Colon
6	chr9:14656200-14692400	Weak transcription	Primary T cells from cord blood	blood
7	chr9:14657000-14692600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:14659600-14692400	Weak transcription	Colon Smooth Muscle	Colon
9	chr9:14672600-14692400	Weak transcription	Small Intestine	intestine
10	chr9:14675400-14692400	Weak transcription	Ovary	ovary
11	chr9:14681400-14692600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:14682000-14692600	Weak transcription	Spleen	Spleen
13	chr9:14685000-14692400	Weak transcription	Right Ventricle	heart
14	chr9:14685800-14692400	Weak transcription	Thymus	Thymus
15	chr9:14686200-14692400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr9:14686800-14692400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr9:14687200-14692600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr9:14687600-14692400	Weak transcription	Psoas Muscle	Psoas
19	chr9:14687600-14692600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:14687800-14692400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr9:14687800-14692400	Weak transcription	Lung	lung
22	chr9:14687800-14692400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr9:14688400-14692600	Weak transcription	Left Ventricle	heart
24	chr9:14689000-14692400	Weak transcription	Esophagus	oesophagus
25	chr9:14689000-14692400	Weak transcription	Fetal Stomach	stomach
26	chr9:14689200-14692400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:14689400-14692400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:14690000-14692400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:14690000-14692400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr9:14690000-14692600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:14690200-14692400	Enhancers	Fetal Intestine Small	intestine
32	chr9:14690200-14692400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr9:14690200-14692600	Weak transcription	Placenta	Placenta
34	chr9:14690400-14692400	Enhancers	Primary B cells from peripheral blood	blood
35	chr9:14690400-14692400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr9:14690400-14692400	Weak transcription	Fetal Muscle Leg	muscle
37	chr9:14690400-14692400	Weak transcription	HSMM	muscle
38	chr9:14690600-14692400	Enhancers	Brain Cingulate Gyrus	brain
39	chr9:14690600-14692600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr9:14690600-14692600	Flanking Active TSS	HUVEC	blood vessel
41	chr9:14690800-14692400	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr9:14690800-14692400	Weak transcription	Fetal Thymus	thymus
43	chr9:14690800-14692400	Enhancers	Osteobl	bone
44	chr9:14691000-14692400	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr9:14691000-14692400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr9:14691000-14692400	Enhancers	NH-A	brain
47	chr9:14691000-14692600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr9:14691000-14692600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr9:14691000-14692600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr9:14691000-14692600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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