Variant report

Variant	rs7947548
Chromosome Location	chr11:100779518-100779519
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	CTCF	chr11:100779400-100779550	AG04450	lung:	n/a	n/a
2	RUNX3	chr11:100779432-100779806	GM12878	blood:	n/a	n/a
3	GATA3	chr11:100779325-100779896	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr11:100779500-100779650	HMF	breast:	n/a	n/a
5	RUNX3	chr11:100779469-100779835	GM12878	blood:	n/a	n/a
6	CTCF	chr11:100779460-100779610	BJ	skin:	n/a	n/a
7	CTCF	chr11:100779440-100779590	AG04450	lung:	n/a	n/a
8	GATA3	chr11:100779391-100779916	SK-N-SH	brain:	n/a	n/a
9	CTCF	chr11:100779500-100779650	HBMEC	blood vessel:	n/a	n/a
10	CTCF	chr11:100779480-100779630	HBMEC	blood vessel:	n/a	n/a
11	POU2F2	chr11:100779518-100779847	GM12878	blood:	n/a	n/a
12	CTCF	chr11:100779500-100779650	AG09309	skin:	n/a	n/a
13	CTCF	chr11:100779500-100779650	AG10803	skin:	n/a	n/a
14	CTCF	chr11:100779500-100779650	AG04449	skin:	n/a	n/a

Variant related genes	Relation type
ARHGAP42	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11224449	1.00[EUR][1000 genomes]
rs11224559	1.00[EUR][1000 genomes]
rs11571276	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12272766	1.00[EUR][1000 genomes]
rs12281179	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs12287806	1.00[EUR][1000 genomes]
rs12291372	1.00[ASW][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12418330	1.00[ASW][hapmap]
rs12418450	1.00[ASW][hapmap]
rs12420466	1.00[ASW][hapmap]
rs12420698	1.00[ASW][hapmap]
rs12421386	1.00[ASW][hapmap]
rs13377486	1.00[EUR][1000 genomes]
rs57779779	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100758400-100798400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:100758600-100795200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:100758800-100789400	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:100758800-100791200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr11:100761600-100788800	Weak transcription	Fetal Heart	heart
6	chr11:100770400-100789800	Weak transcription	Fetal Stomach	stomach
7	chr11:100771200-100784600	Weak transcription	Fetal Intestine Small	intestine
8	chr11:100772000-100831400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:100773800-100789600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:100773800-100789800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:100773800-100809800	Weak transcription	Left Ventricle	heart
12	chr11:100774400-100785200	Weak transcription	Liver	Liver
13	chr11:100774800-100812800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:100776000-100794000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:100776800-100779600	Weak transcription	Psoas Muscle	Psoas
16	chr11:100776800-100789600	Weak transcription	Gastric	stomach
17	chr11:100777000-100780800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:100777400-100779800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:100777400-100794200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:100779000-100780000	Enhancers	Osteobl	bone
21	chr11:100779000-100780400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:100779200-100780000	Enhancers	NHDF-Ad	bronchial
23	chr11:100779200-100789400	Weak transcription	NH-A	brain
24	chr11:100779400-100779600	Enhancers	HSMM	muscle
25	chr11:100779400-100779800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:100779400-100779800	Flanking Active TSS	GM12878-XiMat	blood
27	chr11:100779400-100780000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:100779400-100780000	Enhancers	Dnd41	blood

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