Variant report

Variant	rs17644949
Chromosome Location	chr11:100607011-100607012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr11:100606977-100607307	MCF10A-Er-Src	breast:	n/a	chr11:100607128-100607139 chr11:100607130-100607139 chr11:100607129-100607138
2	CEBPB	chr11:100606906-100607417	A549	lung:	n/a	chr11:100607146-100607159
3	EBF1	chr11:100606812-100607216	GM12878	blood:	n/a	n/a
4	CEBPB	chr11:100606849-100607357	A549	lung:	n/a	chr11:100607146-100607159
5	STAT3	chr11:100606965-100607320	MCF10A-Er-Src	breast:	n/a	chr11:100607128-100607139 chr11:100607130-100607139 chr11:100607129-100607138
6	CTCF	chr11:100607000-100607150	HVMF	connective:	n/a	n/a
7	STAT3	chr11:100606952-100607313	MCF10A-Er-Src	breast:	n/a	chr11:100607128-100607139 chr11:100607130-100607139 chr11:100607129-100607138
8	CEBPB	chr11:100606880-100607295	IMR90	lung:	n/a	chr11:100607146-100607159

Variant related genes	Relation type
ARHGAP42	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17651201	0.91[AMR][1000 genomes]
rs17713448	0.84[EUR][1000 genomes]
rs4121393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4532998	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs594342	0.91[AMR][1000 genomes]
rs7118033	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7950937	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv898327	chr11:100569021-100631075	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100590800-100609600	Weak transcription	Fetal Intestine Small	intestine
2	chr11:100590800-100611000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:100591000-100611000	Weak transcription	NHLF	lung
4	chr11:100591000-100611200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:100598400-100610400	Weak transcription	Ovary	ovary
6	chr11:100598800-100611800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:100598800-100620000	Weak transcription	Gastric	stomach
8	chr11:100599200-100610400	Weak transcription	Psoas Muscle	Psoas
9	chr11:100599400-100607200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:100599800-100610000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:100599800-100619800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:100601400-100609600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:100601400-100610400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:100601600-100609400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:100601800-100608400	Weak transcription	NHDF-Ad	bronchial
16	chr11:100602600-100610200	Weak transcription	Fetal Intestine Large	intestine
17	chr11:100604000-100608400	Weak transcription	HSMMtube	muscle
18	chr11:100604600-100609200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:100605200-100607200	Enhancers	Left Ventricle	heart
20	chr11:100605400-100608800	Enhancers	Fetal Heart	heart
21	chr11:100605400-100614400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr11:100605600-100607200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:100605800-100607800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr11:100605800-100608400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:100605800-100610400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:100606000-100607400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:100606000-100607400	Enhancers	GM12878-XiMat	blood
28	chr11:100606000-100609000	Weak transcription	Liver	Liver
29	chr11:100606000-100609600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:100606000-100610200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:100606400-100607600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr11:100606600-100607200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:100606600-100607400	Enhancers	Stomach Mucosa	stomach
34	chr11:100606600-100607400	Enhancers	Osteobl	bone
35	chr11:100606600-100608600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr11:100606800-100607200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:100606800-100607400	Flanking Active TSS	A549	lung
38	chr11:100606800-100607400	Enhancers	Hela-S3	cervix
39	chr11:100606800-100607400	Enhancers	NH-A	brain
40	chr11:100606800-100610800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:100606800-100611400	Weak transcription	Primary B cells from cord blood	blood
42	chr11:100607000-100607200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr11:100607000-100607400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:100607000-100607400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:100607000-100607400	Enhancers	Right Ventricle	heart
46	chr11:100607000-100607400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr11:100607000-100607800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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