Variant report

Variant	rs7929942
Chromosome Location	chr11:100556851-100556852
allele	C/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	SETDB1	chr11:100556599-100556914	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100550243..100553633-chr11:100554741..100557125,4	K562	blood:

Variant related genes	Relation type
ARHGAP42	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10160326	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10160408	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10160533	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10160586	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10160729	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1021794	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895006	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10895007	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895008	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224367	0.87[ASN][1000 genomes]
rs11224368	0.87[ASN][1000 genomes]
rs11224369	0.87[ASN][1000 genomes]
rs11224376	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11224377	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11224378	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224379	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224380	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11224381	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11224382	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224387	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11224389	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12280935	0.85[ASN][1000 genomes]
rs4754693	0.82[ASN][1000 genomes]
rs6590807	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6590808	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7107791	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117419	0.87[ASN][1000 genomes]
rs7127830	0.87[ASN][1000 genomes]
rs73573308	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7947643	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7952198	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv556122	chr11:99893282-100585889	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv832246	chr11:100426725-100606957	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100547600-100557600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:100548000-100557200	Weak transcription	K562	blood
3	chr11:100548800-100557000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:100551800-100557600	Weak transcription	Fetal Brain Male	brain
5	chr11:100552200-100557000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:100552200-100557200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:100552200-100557200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:100552200-100557200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr11:100552200-100557200	Weak transcription	Fetal Intestine Small	intestine
10	chr11:100552200-100557200	Weak transcription	Fetal Muscle Leg	muscle
11	chr11:100552200-100557400	Weak transcription	Fetal Brain Female	brain
12	chr11:100552200-100557600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr11:100552400-100557400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr11:100552400-100557400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:100552600-100557400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:100552600-100557400	Weak transcription	Dnd41	blood
17	chr11:100553000-100557400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:100553400-100557400	Weak transcription	Primary T cells from cord blood	blood
19	chr11:100554200-100557200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:100554200-100557400	Weak transcription	Right Atrium	heart
21	chr11:100554600-100557600	Enhancers	Primary B cells from cord blood	blood
22	chr11:100554800-100557600	Enhancers	Primary B cells from peripheral blood	blood
23	chr11:100555000-100557200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:100555000-100557600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr11:100555000-100557600	Enhancers	Colon Smooth Muscle	Colon
26	chr11:100555000-100557600	Enhancers	Stomach Mucosa	stomach
27	chr11:100555000-100557600	Enhancers	NHLF	lung
28	chr11:100555200-100557000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:100555200-100557400	Enhancers	Fetal Heart	heart
30	chr11:100555200-100557400	Enhancers	NHDF-Ad	bronchial
31	chr11:100555400-100557000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:100555400-100557000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:100555400-100557000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:100555400-100557400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:100555400-100557400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:100555400-100557400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:100555400-100557400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr11:100555400-100557400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr11:100555400-100557400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:100555600-100557400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:100555600-100557600	Weak transcription	Brain Hippocampus Middle	brain
42	chr11:100555600-100557600	Weak transcription	Brain Substantia Nigra	brain
43	chr11:100555600-100557600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:100555800-100557200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:100555800-100557400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:100555800-100557400	Weak transcription	Brain Anterior Caudate	brain
47	chr11:100555800-100557400	Weak transcription	Hela-S3	cervix
48	chr11:100556000-100557400	Weak transcription	Adipose Nuclei	Adipose
49	chr11:100556000-100557400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:100556000-100557400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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