Variant report

Variant	rs4647598
Chromosome Location	chr11:65120158-65120159
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:65120140-65120290	K562	blood:	n/a	n/a
2	POLR2A	chr11:65119954-65120492	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr11:65120066-65120286	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr11:65120100-65120250	AG09309	skin:	n/a	n/a
5	CTCF	chr11:65120012-65120779	A549	lung:	n/a	n/a
6	POLR2A	chr11:65119823-65120373	K562	blood:	n/a	n/a
7	POLR2A	chr11:65119429-65120445	GM12878	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65116418..65118589-chr11:65119582..65121612,3	K562	blood:
2	chr11:65083433..65086025-chr11:65118367..65121130,2	MCF-7	breast:
3	chr11:65119888..65122132-chr11:65123050..65125503,3	K562	blood:
4	chr11:65105171..65109589-chr11:65119360..65123181,4	K562	blood:
5	chr11:65045328..65049022-chr11:65119140..65122878,4	MCF-7	breast:
6	chr11:65116402..65157784-chr11:65261420..65278410,154	K562	blood:
7	chr11:65102149..65103973-chr11:65118677..65120435,2	MCF-7	breast:
8	chr11:65106450..65111070-chr11:65119360..65123401,6	K562	blood:
9	chr11:65111096..65115711-chr11:65116399..65121621,9	K562	blood:
10	chr11:65083110..65084794-chr11:65119604..65121339,2	K562	blood:
11	chr11:65112410..65115182-chr11:65119454..65121436,2	K562	blood:

No data

Variant related genes	Relation type
TIGD3	TF binding region
ENSG00000270117	Chromatin interaction
ENSG00000149798	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000133884	Chromatin interaction
ENSG00000014138	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1152621	1.00[EUR][1000 genomes]
rs11823327	1.00[EUR][1000 genomes]
rs11826426	1.00[EUR][1000 genomes]
rs11826954	1.00[EUR][1000 genomes]
rs1194339	1.00[EUR][1000 genomes]
rs17146805	1.00[EUR][1000 genomes]
rs1784102	1.00[EUR][1000 genomes]
rs1784221	1.00[EUR][1000 genomes]
rs1939938	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2307266	1.00[EUR][1000 genomes]
rs34286323	1.00[EUR][1000 genomes]
rs4149823	1.00[EUR][1000 genomes]
rs4149824	1.00[EUR][1000 genomes]
rs4149828	1.00[EUR][1000 genomes]
rs4149835	1.00[EUR][1000 genomes]
rs4149839	1.00[EUR][1000 genomes]
rs4647581	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4647583	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4647585	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58771438	1.00[EUR][1000 genomes]
rs59598510	1.00[EUR][1000 genomes]
rs59646878	1.00[EUR][1000 genomes]
rs60315122	1.00[EUR][1000 genomes]
rs61072220	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61502141	1.00[EUR][1000 genomes]
rs73482220	1.00[EUR][1000 genomes]
rs73482248	1.00[EUR][1000 genomes]
rs73482250	1.00[EUR][1000 genomes]
rs73482254	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482257	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482268	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482938	1.00[EUR][1000 genomes]
rs73482957	1.00[EUR][1000 genomes]
rs73482959	1.00[EUR][1000 genomes]
rs73482962	1.00[EUR][1000 genomes]
rs73482972	1.00[EUR][1000 genomes]
rs73482975	1.00[EUR][1000 genomes]
rs73484340	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484344	1.00[EUR][1000 genomes]
rs73484345	1.00[EUR][1000 genomes]
rs73484944	1.00[EUR][1000 genomes]
rs73484950	1.00[EUR][1000 genomes]
rs73484954	1.00[EUR][1000 genomes]
rs73484963	1.00[EUR][1000 genomes]
rs73484971	1.00[EUR][1000 genomes]
rs73484972	1.00[EUR][1000 genomes]
rs73484981	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65103200-65121200	Strong transcription	Fetal Intestine Small	intestine
2	chr11:65103400-65120800	Strong transcription	Fetal Muscle Leg	muscle
3	chr11:65103400-65121200	Strong transcription	Fetal Stomach	stomach
4	chr11:65103600-65120200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:65103600-65120200	Strong transcription	Fetal Muscle Trunk	muscle
6	chr11:65104400-65121400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:65105000-65121000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr11:65105400-65120200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:65105600-65120400	Strong transcription	Primary T cells from cord blood	blood
10	chr11:65105600-65120400	Strong transcription	Fetal Lung	lung
11	chr11:65105600-65120600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:65105600-65120600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr11:65105600-65120800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:65105600-65121000	Strong transcription	Duodenum Mucosa	Duodenum
15	chr11:65105600-65121000	Strong transcription	Osteobl	bone
16	chr11:65105600-65121200	Strong transcription	Fetal Intestine Large	intestine
17	chr11:65105600-65121400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:65105800-65120400	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:65105800-65120400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:65105800-65120400	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr11:65105800-65120400	Strong transcription	Liver	Liver
22	chr11:65105800-65120400	Strong transcription	Fetal Brain Female	brain
23	chr11:65105800-65120400	Strong transcription	Hela-S3	cervix
24	chr11:65105800-65121000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:65105800-65121000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:65105800-65121200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:65106000-65120200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:65106000-65120400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr11:65106000-65120400	Strong transcription	Spleen	Spleen
30	chr11:65106000-65121000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:65106000-65121000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:65106200-65120200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr11:65106200-65120400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:65106200-65120400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:65106200-65121000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:65106400-65120400	Strong transcription	Dnd41	blood
37	chr11:65106400-65120800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr11:65107000-65120200	Strong transcription	Brain Germinal Matrix	brain
39	chr11:65107200-65120400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr11:65107200-65120600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:65107400-65120200	Strong transcription	Primary hematopoietic stem cells	blood
42	chr11:65107400-65120200	Strong transcription	Ovary	ovary
43	chr11:65107400-65120200	Strong transcription	NH-A	brain
44	chr11:65107400-65120400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:65107400-65120400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr11:65107400-65120400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:65107400-65120800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:65107400-65121000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:65107400-65121200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:65107600-65120200	Strong transcription	Skeletal Muscle Female	skeletal muscle

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