Variant report

Variant	rs4647599
Chromosome Location	chr11:65120578-65120579
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:65120500-65120650	HAc	cerebellar:	n/a	n/a
2	CTCF	chr11:65120347-65120599	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr11:65120540-65120690	HFF-Myc	foreskin:	n/a	n/a
4	CTCF	chr11:65120344-65120616	K562	blood:	n/a	n/a
5	CTCF	chr11:65120440-65120590	GM12868	blood:	n/a	n/a
6	CTCF	chr11:65120460-65120610	HVMF	connective:	n/a	n/a
7	CTCF	chr11:65120323-65120588	GM12878	blood:	n/a	n/a
8	CTCF	chr11:65120460-65120610	BJ	skin:	n/a	n/a
9	CTCF	chr11:65120440-65120590	NHEK	skin:	n/a	n/a
10	CTCF	chr11:65120460-65120610	HRE	kidney:	n/a	n/a
11	YY1	chr11:65120309-65120599	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr11:65120520-65120670	HFF-Myc	foreskin:	n/a	n/a
13	CTCF	chr11:65120440-65120590	K562	blood:	n/a	n/a
14	CTCF	chr11:65120012-65120779	A549	lung:	n/a	n/a
15	CTCF	chr11:65120320-65120619	IMR90	lung:	n/a	n/a
16	E2F4	chr11:65120465-65120603	MCF10A-Er-Src	breast:	n/a	n/a
17	CTCF	chr11:65120334-65120607	K562	blood:	n/a	n/a
18	CTCF	chr11:65120334-65120588	A549	lung:	n/a	n/a
19	CTCF	chr11:65120460-65120610	GM12864	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	chr11:65084600..65086404-chr11:65120200..65124254,3	MCF-7	breast:
7	chr11:65116402..65157784-chr11:65261420..65278410,154	K562	blood:
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
ENSG00000149798	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000133884	Chromatin interaction
ENSG00000270117	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17145218	0.86[EUR][1000 genomes]
rs4149830	0.86[EUR][1000 genomes]
rs4647575	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4647576	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4647577	1.00[EUR][1000 genomes]
rs4647587	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60763559	0.97[EUR][1000 genomes]
rs60933608	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61732319	0.97[EUR][1000 genomes]
rs61742143	0.80[EUR][1000 genomes]
rs61743983	0.80[EUR][1000 genomes]
rs61746998	0.80[EUR][1000 genomes]
rs7127811	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73482271	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7947014	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7950149	0.97[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	chr11:65104400-65121400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:65105000-65121000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:65105600-65120600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:65105600-65120600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr11:65105600-65120800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:65105600-65121000	Strong transcription	Duodenum Mucosa	Duodenum
10	chr11:65105600-65121000	Strong transcription	Osteobl	bone
11	chr11:65105600-65121200	Strong transcription	Fetal Intestine Large	intestine
12	chr11:65105600-65121400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:65105800-65121000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:65105800-65121000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:65105800-65121200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:65106000-65121000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:65106000-65121000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:65106200-65121000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:65106400-65120800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:65107200-65120600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:65107400-65120800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:65107400-65121000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:65107400-65121200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:65107600-65120600	Strong transcription	HSMMtube	muscle
25	chr11:65107600-65121000	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:65107800-65120800	Strong transcription	NHLF	lung
27	chr11:65108000-65121000	Strong transcription	NHDF-Ad	bronchial
28	chr11:65108200-65121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr11:65110200-65121000	Weak transcription	Fetal Heart	heart
30	chr11:65112600-65121600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:65112800-65121000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:65114400-65121400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:65114600-65121800	Weak transcription	Small Intestine	intestine
34	chr11:65115400-65121200	Strong transcription	GM12878-XiMat	blood
35	chr11:65117000-65121400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:65117000-65121400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr11:65117000-65121400	Weak transcription	K562	blood
38	chr11:65117200-65121600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr11:65117400-65121400	Genic enhancers	Fetal Thymus	thymus
40	chr11:65117600-65121200	Weak transcription	Stomach Mucosa	stomach
41	chr11:65117800-65121400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr11:65119000-65121400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:65119400-65121400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:65119600-65121400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:65119800-65120600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:65119800-65121200	Weak transcription	Psoas Muscle	Psoas
47	chr11:65119800-65121400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:65119800-65121800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:65120000-65120800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:65120000-65121000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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