Variant report

Variant	rs4647578
Chromosome Location	chr11:65107913-65107914
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65107121..65109332-chr11:65112743..65115448,2	MCF-7	breast:
2	chr11:65106450..65111070-chr11:65119360..65123401,6	K562	blood:
3	chr11:65100322..65103953-chr11:65104304..65109119,7	MCF-7	breast:
4	chr11:65106966..65110029-chr11:65111049..65114233,4	K562	blood:
5	chr11:65100243..65104610-chr11:65105410..65109851,8	K562	blood:
6	chr11:65105171..65109589-chr11:65119360..65123181,4	K562	blood:
7	chr11:65027562..65030484-chr11:65105645..65108132,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133884	Chromatin interaction
ENSG00000173825	Chromatin interaction
ENSG00000014138	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11545201	1.00[MEX][hapmap]
rs17883382	1.00[AMR][1000 genomes]
rs17887152	1.00[AMR][1000 genomes]
rs2957274	1.00[MEX][hapmap]
rs34713603	1.00[AMR][1000 genomes]
rs34997862	1.00[AMR][1000 genomes]
rs4149835	1.00[MEX][hapmap]
rs4149845	1.00[AMR][1000 genomes]
rs41541317	1.00[AMR][1000 genomes]
rs4647564	1.00[MEX][hapmap]
rs647284	1.00[MEX][hapmap]
rs71541944	1.00[AMR][1000 genomes]
rs9333580	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
4	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
5	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65102600-65108400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:65103000-65108000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:65103200-65108000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:65103200-65108000	Weak transcription	Fetal Kidney	kidney
5	chr11:65103200-65110800	Weak transcription	Small Intestine	intestine
6	chr11:65103200-65112000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:65103200-65112800	Weak transcription	Stomach Mucosa	stomach
8	chr11:65103200-65121200	Strong transcription	Fetal Intestine Small	intestine
9	chr11:65103400-65108600	Weak transcription	Fetal Brain Male	brain
10	chr11:65103400-65119600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:65103400-65120800	Strong transcription	Fetal Muscle Leg	muscle
12	chr11:65103400-65121200	Strong transcription	Fetal Stomach	stomach
13	chr11:65103600-65120200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:65103600-65120200	Strong transcription	Fetal Muscle Trunk	muscle
15	chr11:65103800-65117400	Strong transcription	Fetal Thymus	thymus
16	chr11:65104400-65121400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:65105000-65114600	Strong transcription	GM12878-XiMat	blood
18	chr11:65105000-65119200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:65105000-65121000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:65105400-65120200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:65105600-65120000	Strong transcription	Primary B cells from cord blood	blood
22	chr11:65105600-65120400	Strong transcription	Primary T cells from cord blood	blood
23	chr11:65105600-65120400	Strong transcription	Fetal Lung	lung
24	chr11:65105600-65120600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:65105600-65120600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr11:65105600-65120800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:65105600-65121000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr11:65105600-65121000	Strong transcription	Osteobl	bone
29	chr11:65105600-65121200	Strong transcription	Fetal Intestine Large	intestine
30	chr11:65105600-65121400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:65105800-65108400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:65105800-65120400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:65105800-65120400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:65105800-65120400	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr11:65105800-65120400	Strong transcription	Liver	Liver
36	chr11:65105800-65120400	Strong transcription	Fetal Brain Female	brain
37	chr11:65105800-65120400	Strong transcription	Hela-S3	cervix
38	chr11:65105800-65121000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:65105800-65121000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:65105800-65121200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:65106000-65118000	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr11:65106000-65120200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:65106000-65120400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr11:65106000-65120400	Strong transcription	Spleen	Spleen
45	chr11:65106000-65121000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:65106000-65121000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:65106200-65108200	Enhancers	Brain Hippocampus Middle	brain
48	chr11:65106200-65120200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr11:65106200-65120400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:65106200-65120400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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