Variant report

Variant	rs7948279
Chromosome Location	chr11:8115233-8115234
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	chr11:8114581..8116309-chr11:8116337..8119171,2	MCF-7	breast:
2	chr11:8008779..8010283-chr11:8115133..8117124,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175390	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11041758	1.00[CEU][hapmap]
rs11041761	1.00[CEU][hapmap]
rs11041770	1.00[CEU][hapmap]
rs11041771	1.00[CEU][hapmap]
rs11041777	1.00[CEU][hapmap]
rs12361499	1.00[CEU][hapmap]
rs12363297	1.00[CEU][hapmap]
rs4758302	1.00[CEU][hapmap]
rs7945726	1.00[CEU][hapmap]
rs7946652	1.00[CEU][hapmap]

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	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8103600-8115600	Weak transcription	Aorta	Aorta
2	chr11:8103800-8119600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:8104200-8120000	Weak transcription	HSMM	muscle
4	chr11:8105400-8118000	Weak transcription	Fetal Kidney	kidney
5	chr11:8105400-8122000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:8105800-8127400	Weak transcription	HepG2	liver
7	chr11:8106800-8122400	Weak transcription	Spleen	Spleen
8	chr11:8107200-8118000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:8108000-8115400	Weak transcription	Ovary	ovary
10	chr11:8108000-8116000	Weak transcription	NHLF	lung
11	chr11:8108000-8117000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:8108200-8115400	Weak transcription	Fetal Brain Female	brain
13	chr11:8108200-8115600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:8108400-8118200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:8108600-8116400	Weak transcription	Fetal Brain Male	brain
16	chr11:8108600-8117000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:8108600-8118000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:8108800-8115600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:8108800-8115600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:8108800-8115800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:8108800-8115800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:8108800-8116200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:8108800-8117800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:8108800-8118200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:8109000-8125400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:8111600-8115800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:8112200-8117200	Strong transcription	Fetal Lung	lung
28	chr11:8112400-8115800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:8112400-8119800	Weak transcription	NHEK	skin
30	chr11:8112600-8129800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:8112800-8116800	Strong transcription	A549	lung
32	chr11:8113200-8116600	Enhancers	Fetal Intestine Large	intestine
33	chr11:8113200-8117200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:8113200-8128600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:8113600-8115800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:8113600-8117800	Genic enhancers	Fetal Intestine Small	intestine
37	chr11:8113800-8115400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:8114000-8115400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:8114000-8115400	Enhancers	Brain Anterior Caudate	brain
40	chr11:8114000-8115800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr11:8114200-8115800	Enhancers	Brain Cingulate Gyrus	brain
42	chr11:8114200-8116200	Enhancers	Duodenum Mucosa	Duodenum
43	chr11:8114200-8122200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:8114400-8116000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:8114400-8116200	Enhancers	Colonic Mucosa	Colon
46	chr11:8114400-8124000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr11:8114400-8125600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr11:8114400-8125800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:8114400-8128200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr11:8114400-8130000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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