Variant report

Variant	rs7128258
Chromosome Location	chr11:46268489-46268490
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46263626..46270809-chr11:46297011..46303055,11	K562	blood:
2	chr11:46267585..46269649-chr11:46335918..46338453,3	MCF-7	breast:
3	chr11:46267736..46276529-chr11:46293070..46299071,10	MCF-7	breast:
4	chr11:46263034..46268818-chr11:46367251..46371688,6	K562	blood:
5	chr11:46268132..46272045-chr11:46328235..46332605,8	MCF-7	breast:
6	chr11:46268414..46269636-chr11:46326963..46327544,3	MCF-7	breast:
7	chr11:46263737..46269397-chr11:46329982..46337819,11	K562	blood:
8	chr11:46266732..46269706-chr11:46378286..46381053,3	MCF-7	breast:
9	chr11:46260020..46262918-chr11:46267524..46269406,4	MCF-7	breast:
10	chr11:46258381..46272821-chr11:46315090..46322037,29	K562	blood:
11	chr11:46255391..46271183-chr11:46315085..46324739,29	K562	blood:
12	chr11:46268196..46269979-chr11:46296716..46298280,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255007	Chromatin interaction
ENSG00000149091	Chromatin interaction
ENSG00000157613	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10838586	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10838587	0.84[CEU][hapmap];0.82[JPT][hapmap]
rs10838588	0.80[CEU][hapmap];0.82[JPT][hapmap]
rs10838589	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11038826	0.85[ASN][1000 genomes]
rs11038831	0.90[ASN][1000 genomes]
rs11038834	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12223774	0.90[ASN][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	nsv1051344	chr11:46188818-46306447	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv541028	chr11:46188818-46306447	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv308	chr11:46242287-46287542	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46265400-46268600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:46265400-46268800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:46265400-46268800	Weak transcription	Placenta	Placenta
4	chr11:46265400-46268800	Weak transcription	Gastric	stomach
5	chr11:46265400-46269000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:46265400-46269000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:46265400-46269400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:46265400-46269800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:46265400-46270400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:46265400-46270400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:46265400-46270400	Weak transcription	Left Ventricle	heart
12	chr11:46265400-46273200	Weak transcription	Fetal Thymus	thymus
13	chr11:46265600-46268600	Weak transcription	Psoas Muscle	Psoas
14	chr11:46265600-46268600	Weak transcription	A549	lung
15	chr11:46265600-46268600	Weak transcription	HMEC	breast
16	chr11:46265600-46268600	Weak transcription	NH-A	brain
17	chr11:46265600-46269000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:46265600-46269000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:46265600-46269000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:46265600-46269400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:46265600-46269400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:46265600-46269400	Weak transcription	Fetal Intestine Large	intestine
23	chr11:46265600-46269400	Weak transcription	Fetal Intestine Small	intestine
24	chr11:46265600-46269400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:46265600-46270000	Weak transcription	GM12878-XiMat	blood
26	chr11:46265600-46270200	Weak transcription	HUVEC	blood vessel
27	chr11:46265600-46270400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:46265600-46270400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:46265600-46270400	Weak transcription	Aorta	Aorta
30	chr11:46265600-46270400	Weak transcription	Fetal Heart	heart
31	chr11:46265600-46270400	Weak transcription	Fetal Stomach	stomach
32	chr11:46265600-46270800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:46265600-46271200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:46265600-46271200	Weak transcription	Fetal Lung	lung
35	chr11:46265600-46273000	Weak transcription	Pancreas	Pancrea
36	chr11:46265600-46281600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:46265800-46269400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:46266400-46268600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:46266400-46269000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:46266400-46269400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:46266400-46270400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:46266400-46273600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:46266600-46270400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr11:46267200-46272200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:46267400-46272000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:46267600-46270000	Enhancers	Osteobl	bone
47	chr11:46267800-46269000	Weak transcription	K562	blood
48	chr11:46267800-46269400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr11:46268000-46268800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr11:46268000-46269200	Enhancers	Skeletal Muscle Female	skeletal muscle

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