Variant report

Variant	rs1348871
Chromosome Location	chr11:92921441-92921442
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10466352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10765587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10830988	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10830989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10830996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831004	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831006	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420961	0.85[ASN][1000 genomes]
rs12786007	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1508608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1992803	0.81[JPT][hapmap]
rs2121468	0.81[JPT][hapmap]
rs4753436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs522508	0.85[ASN][1000 genomes]
rs546386	0.85[ASN][1000 genomes]
rs7110304	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120307	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7925288	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039134	chr11:92790000-93219942	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv898176	chr11:92877533-92965312	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv898177	chr11:92877533-92971874	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv898178	chr11:92881933-92949447	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv898179	chr11:92881933-92956873	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv818858	chr11:92898342-92932229	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv2757465	chr11:92898342-92934137	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv2759853	chr11:92898342-92934137	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv2829957	chr11:92915544-92932229	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	esv33564	chr11:92918600-92936545	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92891600-92925400	Weak transcription	Fetal Heart	heart
2	chr11:92891800-92929800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr11:92900600-92929600	Weak transcription	HUVEC	blood vessel
4	chr11:92911200-92930000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:92911400-92925400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:92911600-92925400	Weak transcription	Esophagus	oesophagus
7	chr11:92911600-92925400	Weak transcription	Gastric	stomach
8	chr11:92911600-92929800	Weak transcription	Right Ventricle	heart
9	chr11:92911600-92930000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:92911800-92929800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:92911800-92930200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:92912200-92929800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:92912200-92929800	Weak transcription	Thymus	Thymus
14	chr11:92912200-92930000	Weak transcription	Fetal Stomach	stomach
15	chr11:92912400-92929800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:92912400-92930000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:92912600-92923000	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:92912600-92924000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:92912600-92926800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:92912600-92928000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:92913200-92929800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:92914000-92925200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr11:92914400-92924800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:92916200-92924600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr11:92916200-92929800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:92917400-92922000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:92917600-92929800	Weak transcription	NHDF-Ad	bronchial
28	chr11:92917800-92929800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:92917800-92929800	Weak transcription	HSMM	muscle
30	chr11:92918000-92924600	Weak transcription	Hela-S3	cervix
31	chr11:92919000-92924800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:92919000-92929000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr11:92919200-92925000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:92919200-92925200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:92919800-92921600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:92920000-92921600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr11:92920200-92921600	ZNF genes & repeats	Primary B cells from cord blood	blood
38	chr11:92920400-92921600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:92920600-92922000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr11:92920800-92929800	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:92921000-92921600	ZNF genes & repeats	Dnd41	blood
42	chr11:92921000-92924600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:92921000-92929800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:92921000-92929800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:92921000-92930000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:92921200-92921600	Strong transcription	Primary hematopoietic stem cells	blood
47	chr11:92921200-92928200	Weak transcription	HepG2	liver
48	chr11:92921200-92929800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:92921200-92929800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:92921200-92929800	Weak transcription	Rectal Mucosa Donor 31	rectum

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