Variant report

Variant	rs1941370
Chromosome Location	chr11:100800093-100800094
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	CEBPB	chr11:100800040-100800441	IMR90	lung:	n/a	n/a
2	ATF2	chr11:100800086-100800559	GM12878	blood:	n/a	n/a
3	RUNX3	chr11:100800031-100800510	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100790778..100793408-chr11:100799342..100801098,2	MCF-7	breast:
2	chr11:100556941..100559649-chr11:100798656..100801476,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238388	TF binding region
ENSG00000248027	Chromatin interaction
ENSG00000165895	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10791434	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10791435	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10791436	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10791437	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10791438	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10895031	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11224535	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1145435	0.84[EUR][1000 genomes]
rs1217180	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1941371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1941372	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2155442	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2155793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2510624	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2510625	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2510626	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3017866	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs471180	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs474651	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4753987	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs477567	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs480080	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs481991	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs483789	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs485767	0.91[EUR][1000 genomes]
rs491964	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs493079	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs494451	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs494907	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs499861	0.86[EUR][1000 genomes]
rs501797	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs503455	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs504081	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs505405	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs506242	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs508850	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs508950	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs509013	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs509166	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs509676	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs512405	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs513057	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs514101	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs514403	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs518675	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs519235	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs519594	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs520403	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs520539	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs521216	0.94[EUR][1000 genomes]
rs522337	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs522988	0.86[EUR][1000 genomes]
rs524416	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs525129	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs525940	0.94[EUR][1000 genomes]
rs529194	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs532783	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs534623	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs535518	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs536270	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs538158	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs539204	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs540000	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs540961	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs541056	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs544257	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs544388	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs546052	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs546059	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs547105	1.00[EUR][1000 genomes]
rs551502	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs552391	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs560235	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs562891	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs566608	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs571904	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs572838	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs575448	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs575617	0.81[EUR][1000 genomes]
rs576355	0.84[EUR][1000 genomes]
rs577170	0.82[EUR][1000 genomes]
rs577251	0.83[EUR][1000 genomes]
rs578102	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs580773	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs583989	0.81[EUR][1000 genomes]
rs584029	0.86[EUR][1000 genomes]
rs594200	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs594985	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs595761	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs607889	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs611591	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs616164	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs617898	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs618017	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs618155	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs618907	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs619066	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs620790	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs621172	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs629442	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs629677	0.89[EUR][1000 genomes]
rs632725	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs633967	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs637508	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs638004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs641948	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs649369	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs649394	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs650269	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs652017	0.98[EUR][1000 genomes]
rs652559	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs653344	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs662173	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs663622	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs673125	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs676976	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs678351	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs678775	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs688664	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs693760	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs694078	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs694556	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7929787	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7933457	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7952007	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7952634	0.87[AMR][1000 genomes];0.94[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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100772000-100831400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:100773800-100809800	Weak transcription	Left Ventricle	heart
3	chr11:100774800-100812800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:100784000-100808800	Weak transcription	Primary B cells from cord blood	blood
5	chr11:100785400-100838400	Weak transcription	Fetal Intestine Small	intestine
6	chr11:100786800-100806800	Weak transcription	Placenta	Placenta
7	chr11:100790000-100803200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:100790200-100812600	Weak transcription	Stomach Mucosa	stomach
9	chr11:100790400-100806600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:100793400-100807000	Weak transcription	Liver	Liver
11	chr11:100794200-100803000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:100794200-100807000	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:100794400-100812800	Weak transcription	Fetal Stomach	stomach
14	chr11:100794800-100800200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:100795600-100807400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr11:100797600-100811800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:100798200-100800400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:100798400-100801000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:100798400-100801000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr11:100798400-100801000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:100798600-100800600	Enhancers	Osteobl	bone
22	chr11:100798600-100800800	Weak transcription	Brain Anterior Caudate	brain
23	chr11:100798600-100801000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:100798600-100801000	Enhancers	NHEK	skin
25	chr11:100798600-100807600	Weak transcription	Ovary	ovary
26	chr11:100798600-100811600	Weak transcription	Fetal Lung	lung
27	chr11:100798600-100812800	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:100798600-100826600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:100798600-100828200	Weak transcription	Gastric	stomach
30	chr11:100798800-100807000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:100798800-100811400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:100798800-100832200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:100799000-100801000	Enhancers	HMEC	breast
34	chr11:100799000-100801400	Enhancers	NH-A	brain
35	chr11:100799200-100800800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:100799200-100801000	Enhancers	NHDF-Ad	bronchial
37	chr11:100799200-100804600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:100799200-100812800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:100799200-100812800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:100799400-100801000	Enhancers	HSMM	muscle
41	chr11:100799600-100800200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:100799600-100800200	Enhancers	GM12878-XiMat	blood
43	chr11:100799800-100800600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:100800000-100800200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:100800000-100800200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:100800000-100800200	Flanking Active TSS	NHLF	lung
47	chr11:100800000-100800800	Enhancers	Hela-S3	cervix
48	chr11:100800000-100801000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:100800000-100801000	Enhancers	Fetal Heart	heart
50	chr11:100800000-100801000	Enhancers	HSMMtube	muscle

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