Variant report

Variant	rs629442
Chromosome Location	chr11:100779732-100779733
allele	C/T
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	RUNX3	chr11:100779432-100779806	GM12878	blood:	n/a	n/a
2	GATA3	chr11:100779325-100779896	SK-N-SH	brain:	n/a	n/a
3	RUNX3	chr11:100779469-100779835	GM12878	blood:	n/a	n/a
4	GATA3	chr11:100779391-100779916	SK-N-SH	brain:	n/a	n/a
5	POU2F2	chr11:100779518-100779847	GM12878	blood:	n/a	n/a
6	POU2F2	chr11:100779523-100779766	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ARHGAP42	TF binding region

Extended variants
information (count: 137 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs10791434	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10791435	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10791436	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10791437	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10791438	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10895031	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11224535	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1217180	0.96[EUR][1000 genomes]
rs1941370	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1941371	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1941372	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2155442	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2155793	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2510624	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2510625	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2510626	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3017866	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs471180	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs474651	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4753987	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs475432	0.85[AFR][1000 genomes]
rs477567	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs480080	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs480145	0.85[AFR][1000 genomes]
rs481991	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs483789	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs485767	0.83[EUR][1000 genomes]
rs491964	0.81[EUR][1000 genomes]
rs493079	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs494451	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs494907	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs497234	0.85[AFR][1000 genomes]
rs501797	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs501831	0.85[AFR][1000 genomes]
rs503455	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs504081	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs505405	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs506242	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs508850	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs508950	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs509013	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs509166	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs509676	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs512405	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs513057	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs514101	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs514403	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs518675	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs519235	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs519594	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs520403	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs520539	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs521216	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs522337	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs524416	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs525129	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs525940	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs529194	0.89[EUR][1000 genomes]
rs532783	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs534623	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs535518	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs536270	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs538158	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs539204	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs540000	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs540961	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs541056	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs544257	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs544388	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs546052	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs546059	0.96[EUR][1000 genomes]
rs547105	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs549510	0.85[AFR][1000 genomes]
rs551502	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs552391	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs555825	0.85[AFR][1000 genomes]
rs560235	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs562891	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs566608	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs571904	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs572838	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs575448	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs577170	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs578102	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs580773	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs583989	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs584029	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs585183	0.86[AFR][1000 genomes]
rs594200	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs594985	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs595761	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs601016	0.85[AFR][1000 genomes]
rs607889	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs611591	0.88[AMR][1000 genomes]
rs614393	0.87[EUR][1000 genomes]
rs614761	0.87[EUR][1000 genomes]
rs616164	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs617898	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs618017	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs618155	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs618907	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs619066	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs620790	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs621172	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs623072	0.86[AFR][1000 genomes]
rs629677	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs632725	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs633967	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs636528	0.87[EUR][1000 genomes]
rs637508	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs638004	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs641341	0.82[AFR][1000 genomes]
rs641948	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs649369	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs649394	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs650269	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs652017	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs652559	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs653344	0.85[EUR][1000 genomes]
rs657945	0.86[AFR][1000 genomes]
rs662173	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs663622	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs673183	0.82[AFR][1000 genomes]
rs676976	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs678351	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs678775	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs688664	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs693760	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs694078	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs694556	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7929787	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7933457	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7938783	0.82[AFR][1000 genomes]
rs7952007	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7952634	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[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	chr11:100776800-100789600	Weak transcription	Gastric	stomach
16	chr11:100777000-100780800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:100777400-100779800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:100777400-100794200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:100779000-100780000	Enhancers	Osteobl	bone
20	chr11:100779000-100780400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:100779200-100780000	Enhancers	NHDF-Ad	bronchial
22	chr11:100779200-100789400	Weak transcription	NH-A	brain
23	chr11:100779400-100779800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:100779400-100779800	Flanking Active TSS	GM12878-XiMat	blood
25	chr11:100779400-100780000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:100779400-100780000	Enhancers	Dnd41	blood
27	chr11:100779600-100779800	ZNF genes & repeats	Psoas Muscle	Psoas
28	chr11:100779600-100786200	Weak transcription	Placenta	Placenta

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