Variant report

Variant	rs1578957
Chromosome Location	chr2:98538433-98538434
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11680883	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13033383	1.00[CHD][hapmap]
rs17424579	0.83[ASN][1000 genomes]
rs34503448	0.86[AFR][1000 genomes]
rs71412824	0.86[AFR][1000 genomes]
rs717417	0.86[AFR][1000 genomes]
rs7421146	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs895438	1.00[CHD][hapmap]
rs953320	0.86[AFR][1000 genomes]

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	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1578957	ZNF514	cis	cerebellum	SCAN

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98504000-98538800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:98504000-98540600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:98504000-98540800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:98504600-98540800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:98504600-98552200	Weak transcription	NHLF	lung
6	chr2:98515800-98540800	Weak transcription	Aorta	Aorta
7	chr2:98519600-98541600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:98519800-98538600	Weak transcription	Gastric	stomach
9	chr2:98520200-98546000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:98520200-98552200	Weak transcription	Brain Angular Gyrus	brain
11	chr2:98520600-98550600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:98520800-98540400	Weak transcription	Lung	lung
13	chr2:98521800-98540400	Weak transcription	Colonic Mucosa	Colon
14	chr2:98523200-98540600	Weak transcription	Right Ventricle	heart
15	chr2:98523400-98540600	Weak transcription	Fetal Brain Female	brain
16	chr2:98523400-98545800	Weak transcription	Fetal Kidney	kidney
17	chr2:98523400-98546200	Weak transcription	HUVEC	blood vessel
18	chr2:98524600-98552600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:98524800-98540800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:98524800-98552200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:98525000-98538600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:98525000-98539200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:98525000-98540600	Weak transcription	Adipose Nuclei	Adipose
24	chr2:98525000-98551600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:98525200-98538800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:98525200-98547400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:98525600-98539200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:98525600-98548200	Weak transcription	Pancreas	Pancrea
29	chr2:98525800-98540800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr2:98527800-98540800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:98528600-98550600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:98528800-98541000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:98528800-98541000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:98529000-98552200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:98529200-98540600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:98529200-98540600	Weak transcription	Stomach Mucosa	stomach
37	chr2:98529400-98540400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:98529400-98540600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:98529400-98540600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:98529400-98540800	Weak transcription	Liver	Liver
41	chr2:98529400-98541600	Weak transcription	Osteobl	bone
42	chr2:98529800-98539200	Weak transcription	Fetal Intestine Large	intestine
43	chr2:98529800-98540400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:98530400-98540800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:98530400-98541400	Weak transcription	Small Intestine	intestine
46	chr2:98531000-98540600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr2:98531000-98552400	Weak transcription	Right Atrium	heart
48	chr2:98531200-98540600	Weak transcription	Thymus	Thymus
49	chr2:98531200-98552200	Weak transcription	Fetal Thymus	thymus
50	chr2:98531400-98538600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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