Variant report

Variant	rs57445939
Chromosome Location	chr7:33218862-33218863
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs55725343	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56271710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58830707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61196657	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6970824	1.00[AMR][1000 genomes]
rs73687329	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73687352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73687358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73687359	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73687362	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688082	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688083	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688090	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688094	0.92[AFR][1000 genomes]
rs73688907	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv830943	chr7:33167106-33352759	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv606610	chr7:33218763-33486316	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33185600-33224000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:33190200-33230400	Weak transcription	Gastric	stomach
3	chr7:33195200-33220200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr7:33197000-33222200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:33197200-33220400	Weak transcription	Brain Anterior Caudate	brain
6	chr7:33202400-33219800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:33203800-33221200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:33206200-33225400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:33206400-33220200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:33206400-33221200	Weak transcription	Colonic Mucosa	Colon
11	chr7:33206400-33230400	Weak transcription	Right Ventricle	heart
12	chr7:33206600-33222600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:33206600-33230400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr7:33206600-33232600	Weak transcription	Pancreas	Pancrea
15	chr7:33206600-33234800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:33206800-33222400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:33206800-33230400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr7:33210800-33230200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr7:33213400-33230600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:33214000-33230400	Weak transcription	Liver	Liver
21	chr7:33214200-33220200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr7:33214200-33223600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:33214200-33226000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:33214400-33220200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:33214400-33220400	Weak transcription	Fetal Brain Female	brain
26	chr7:33214400-33220400	Weak transcription	Psoas Muscle	Psoas
27	chr7:33214400-33221400	Weak transcription	Primary B cells from cord blood	blood
28	chr7:33215000-33222400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:33215200-33222200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:33215400-33219600	Weak transcription	Dnd41	blood
31	chr7:33215400-33225600	Weak transcription	Osteobl	bone
32	chr7:33215600-33219000	Weak transcription	Fetal Intestine Small	intestine
33	chr7:33216200-33220200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:33216200-33225600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:33216400-33222000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr7:33216400-33225600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:33217000-33219000	Strong transcription	Primary hematopoietic stem cells	blood
38	chr7:33217000-33239200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:33217200-33219000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:33217200-33221000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:33217600-33220800	Strong transcription	Ovary	ovary
42	chr7:33217600-33221200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:33217800-33220200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:33217800-33231000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:33217800-33252400	Weak transcription	Aorta	Aorta
46	chr7:33218000-33222400	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:33218200-33219000	Enhancers	Fetal Lung	lung
48	chr7:33218200-33219000	Weak transcription	Lung	lung
49	chr7:33218200-33219600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:33218200-33220400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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