Variant report

Variant	rs11604197
Chromosome Location	chr11:100722053-100722054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100721964..100724850-chr11:100725168..100727947,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1074544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11605292	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12792417	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12798154	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17653373	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17653824	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1941373	0.91[EUR][1000 genomes]
rs2197145	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34834193	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34877157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34981694	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35174329	0.92[EUR][1000 genomes]
rs35997600	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56957305	0.84[AFR][1000 genomes]
rs7128526	0.99[EUR][1000 genomes]
rs7927459	0.85[EUR][1000 genomes]
rs7939833	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7943500	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv468849	chr11:100713227-100733120	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv556129	chr11:100713227-100733120	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100699600-100722400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:100703000-100731800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:100716800-100727000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:100717600-100722800	Enhancers	Fetal Heart	heart
5	chr11:100719000-100722600	Enhancers	NHDF-Ad	bronchial
6	chr11:100719400-100722200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:100719400-100722800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:100720200-100722400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:100720200-100745000	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:100720600-100722600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr11:100720600-100726400	Weak transcription	Adipose Nuclei	Adipose
12	chr11:100720600-100728000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:100720600-100733400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:100720800-100726000	Weak transcription	Fetal Kidney	kidney
15	chr11:100721000-100722800	Bivalent Enhancer	Fetal Lung	lung
16	chr11:100721000-100723400	Weak transcription	Stomach Mucosa	stomach
17	chr11:100721000-100725800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:100721000-100726000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:100721000-100726000	Weak transcription	Osteobl	bone
20	chr11:100721000-100730800	Weak transcription	Fetal Intestine Small	intestine
21	chr11:100721200-100722400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:100721200-100726000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:100721600-100722600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:100721600-100723400	Enhancers	Placenta	Placenta
25	chr11:100721600-100733400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr11:100721800-100722600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:100721800-100722600	Enhancers	NHEK	skin
28	chr11:100721800-100722800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:100721800-100722800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:100721800-100722800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:100721800-100722800	Enhancers	Right Ventricle	heart
32	chr11:100721800-100722800	Enhancers	A549	lung
33	chr11:100721800-100722800	Enhancers	HMEC	breast
34	chr11:100722000-100722200	Flanking Active TSS	Liver	Liver
35	chr11:100722000-100722200	Enhancers	Fetal Stomach	stomach
36	chr11:100722000-100722400	Weak transcription	Gastric	stomach
37	chr11:100722000-100722600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr11:100722000-100722600	Enhancers	Hela-S3	cervix

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