Variant report

Variant	rs11953044
Chromosome Location	chr5:9535743-9535744
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	chr5:9534301..9536161-chr5:9536670..9538887,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17260155	1.00[AFR][1000 genomes]
rs17264506	0.87[AMR][1000 genomes]
rs17327396	1.00[AFR][1000 genomes]
rs62342576	1.00[AFR][1000 genomes]
rs62342584	1.00[AFR][1000 genomes]
rs62342597	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881438	chr5:8728874-9695667	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1015378	chr5:9053542-9617963	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv537640	chr5:9053542-9617963	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv597071	chr5:9182376-9760599	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1032672	chr5:9182409-9843893	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1035075	chr5:9182584-9843723	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv537641	chr5:9182584-9843723	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1034637	chr5:9182784-9741743	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv537642	chr5:9182784-9741743	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv1028656	chr5:9196001-9837040	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1016885	chr5:9218932-9575594	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1026078	chr5:9222811-9591290	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1022137	chr5:9225121-9745434	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv537643	chr5:9225121-9745434	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv1022574	chr5:9314645-9647238	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv869120	chr5:9491731-10149255	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription 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	21 gene(s)	inside rSNPs	diseases
17	nsv1018275	chr5:9504897-9560199	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv537644	chr5:9504897-9560199	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv597073	chr5:9533854-9550642	Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9521200-9544400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:9525400-9542000	Weak transcription	Small Intestine	intestine
3	chr5:9528400-9544200	Weak transcription	Fetal Intestine Small	intestine
4	chr5:9529600-9544400	Weak transcription	Pancreas	Pancrea
5	chr5:9529600-9544800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:9530200-9543600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:9530200-9544600	Weak transcription	Lung	lung
8	chr5:9530400-9544200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr5:9530400-9544800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:9532000-9536000	Weak transcription	Right Ventricle	heart
11	chr5:9532800-9536000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:9533000-9536200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:9533000-9536200	Enhancers	NHDF-Ad	bronchial
14	chr5:9533400-9537000	Weak transcription	Fetal Lung	lung
15	chr5:9533400-9543600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:9533800-9536000	Enhancers	NHLF	lung
17	chr5:9533800-9538600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:9534000-9536200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:9534000-9536400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:9534000-9537200	Enhancers	Fetal Muscle Leg	muscle
21	chr5:9534200-9536200	Enhancers	Brain Hippocampus Middle	brain
22	chr5:9534200-9537200	Enhancers	Fetal Muscle Trunk	muscle
23	chr5:9534200-9537200	Enhancers	Left Ventricle	heart
24	chr5:9534200-9540200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:9534200-9543200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:9534400-9536200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:9534400-9540600	Weak transcription	Osteobl	bone
28	chr5:9534400-9542800	Weak transcription	Fetal Kidney	kidney
29	chr5:9534400-9542800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr5:9534600-9535800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:9534600-9535800	Enhancers	Fetal Brain Male	brain
32	chr5:9534600-9536200	Enhancers	Brain Angular Gyrus	brain
33	chr5:9534600-9536800	Weak transcription	GM12878-XiMat	blood
34	chr5:9534600-9538800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:9534600-9543000	Weak transcription	Brain Germinal Matrix	brain
36	chr5:9534800-9535800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:9534800-9536000	Enhancers	NHEK	skin
38	chr5:9534800-9537600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:9534800-9538800	Enhancers	Fetal Heart	heart
40	chr5:9534800-9543000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr5:9535000-9535800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:9535000-9536200	Enhancers	Brain Anterior Caudate	brain
43	chr5:9535000-9536400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:9535000-9536400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:9535200-9540200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:9535400-9535800	Enhancers	Fetal Stomach	stomach
47	chr5:9535400-9536200	ZNF genes & repeats	Right Atrium	heart
48	chr5:9535400-9540800	Weak transcription	NH-A	brain
49	chr5:9535400-9543000	Weak transcription	Aorta	Aorta
50	chr5:9535600-9536000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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