Variant report

Variant	rs7947700
Chromosome Location	chr11:100553381-100553382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:100550243..100553633-chr11:100554741..100557125,4	K562	blood:
2	chr11:100552709..100553658-chr11:100725879..100726865,3	MCF-7	breast:
3	chr11:100553151..100554077-chr11:100725981..100726890,2	MCF-7	breast:
4	chr11:100552875..100554819-chr11:100725127..100727226,2	MCF-7	breast:
5	chr11:100553219..100554082-chr11:100698972..100699516,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11820138	1.00[AMR][1000 genomes]
rs11821038	1.00[AMR][1000 genomes]
rs11822331	0.86[AFR][1000 genomes]
rs17095348	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17095407	0.86[AFR][1000 genomes]
rs17095436	0.83[AFR][1000 genomes]
rs9666028	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053430	chr11:99888390-100629136	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1042067	chr11:99889697-100629136	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv556122	chr11:99893282-100585889	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1037689	chr11:99895378-100624599	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1040942	chr11:99895378-100629136	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1039852	chr11:99901695-100610533	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv541152	chr11:99901695-100610533	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1045190	chr11:99913193-100627395	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv541153	chr11:99913193-100627395	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats 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	8 gene(s)	inside rSNPs	diseases
10	nsv529454	chr11:99913394-100627255	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1043022	chr11:100387466-100610533	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv832246	chr11:100426725-100606957	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr11:100546400-100554800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:100547400-100556400	Weak transcription	Placenta	Placenta
3	chr11:100547600-100557600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:100548000-100557200	Weak transcription	K562	blood
5	chr11:100548800-100553800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:100548800-100554000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:100548800-100554400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:100548800-100557000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:100551000-100553800	Enhancers	Primary B cells from peripheral blood	blood
10	chr11:100551200-100555000	Weak transcription	Brain Germinal Matrix	brain
11	chr11:100551200-100555200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:100551400-100554200	Enhancers	Primary B cells from cord blood	blood
13	chr11:100551800-100557600	Weak transcription	Fetal Brain Male	brain
14	chr11:100552000-100555000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:100552000-100555000	Weak transcription	NHLF	lung
16	chr11:100552000-100556200	Weak transcription	Fetal Stomach	stomach
17	chr11:100552200-100553400	Enhancers	Primary T cells from cord blood	blood
18	chr11:100552200-100553400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:100552200-100553800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:100552200-100554000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:100552200-100554200	Weak transcription	Osteobl	bone
22	chr11:100552200-100554800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:100552200-100554800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:100552200-100555000	Weak transcription	NH-A	brain
25	chr11:100552200-100555600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:100552200-100557000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:100552200-100557200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:100552200-100557200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:100552200-100557200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:100552200-100557200	Weak transcription	Fetal Intestine Small	intestine
31	chr11:100552200-100557200	Weak transcription	Fetal Muscle Leg	muscle
32	chr11:100552200-100557400	Weak transcription	Fetal Brain Female	brain
33	chr11:100552200-100557600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:100552400-100553400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:100552400-100553400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:100552400-100553400	Weak transcription	Fetal Heart	heart
37	chr11:100552400-100553600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:100552400-100554000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:100552400-100554800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:100552400-100554800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr11:100552400-100555000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr11:100552400-100555600	Weak transcription	Adipose Nuclei	Adipose
43	chr11:100552400-100557400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:100552400-100557400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr11:100552600-100553600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:100552600-100553800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr11:100552600-100553800	Weak transcription	A549	lung
48	chr11:100552600-100555000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr11:100552600-100556400	Enhancers	GM12878-XiMat	blood
50	chr11:100552600-100557400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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