Variant report

Variant	rs11916248
Chromosome Location	chr3:136415877-136415878
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16844164	0.84[AFR][1000 genomes]
rs59752479	1.00[AFR][1000 genomes]
rs6809885	0.89[AFR][1000 genomes]
rs72975375	1.00[AFR][1000 genomes]
rs72981338	1.00[AFR][1000 genomes]
rs72985254	1.00[AFR][1000 genomes]
rs72989129	1.00[AFR][1000 genomes]
rs7637345	1.00[AFR][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	nsv460861	chr3:136222954-136425600	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv591851	chr3:136222954-136425600	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1008866	chr3:136364511-136427790	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv877529	chr3:136364511-136487559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136390800-136447800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:136395000-136418200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:136409400-136417800	Weak transcription	Aorta	Aorta
4	chr3:136409400-136422000	Weak transcription	Lung	lung
5	chr3:136411000-136416200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:136411000-136444400	Weak transcription	Fetal Lung	lung
7	chr3:136411400-136416800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:136411400-136417800	Weak transcription	Left Ventricle	heart
9	chr3:136411600-136416400	ZNF genes & repeats	Dnd41	blood
10	chr3:136411600-136419200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:136411600-136427800	Weak transcription	Right Ventricle	heart
12	chr3:136411800-136416400	ZNF genes & repeats	Primary T cells from cord blood	blood
13	chr3:136411800-136417000	Weak transcription	Brain Substantia Nigra	brain
14	chr3:136412000-136416200	ZNF genes & repeats	Primary B cells from cord blood	blood
15	chr3:136412600-136416200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
16	chr3:136413200-136416000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:136413200-136420200	Weak transcription	Colon Smooth Muscle	Colon
18	chr3:136413200-136420800	Weak transcription	Right Atrium	heart
19	chr3:136413400-136423400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr3:136413400-136447200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:136413800-136447800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:136414800-136416800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:136414800-136426400	Weak transcription	Fetal Kidney	kidney
24	chr3:136415000-136417200	Enhancers	Brain Hippocampus Middle	brain
25	chr3:136415000-136420800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:136415200-136417400	Weak transcription	A549	lung
27	chr3:136415200-136417800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:136415200-136417800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:136415200-136422600	Weak transcription	Fetal Thymus	thymus
30	chr3:136415200-136426200	Weak transcription	HepG2	liver
31	chr3:136415200-136444600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr3:136415200-136446000	Weak transcription	Thymus	Thymus
33	chr3:136415400-136416400	Enhancers	Adipose Nuclei	Adipose
34	chr3:136415400-136416400	Weak transcription	K562	blood
35	chr3:136415400-136417000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr3:136415400-136417200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr3:136415400-136417400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:136415400-136417400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr3:136415400-136430200	Weak transcription	Psoas Muscle	Psoas
40	chr3:136415400-136431000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:136415400-136444400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:136415400-136444400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr3:136415400-136447200	Weak transcription	NHDF-Ad	bronchial
44	chr3:136415400-136447600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:136415600-136422000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr3:136415800-136417400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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