Variant report

Variant	rs2976972
Chromosome Location	chr8:8228030-8228031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8219726..8222734-chr8:8227381..8229987,3	K562	blood:
2	chr8:8142616..8145069-chr8:8226333..8228141,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13280051	0.93[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs13282599	0.91[ASN][1000 genomes]
rs2921003	0.82[EUR][1000 genomes]
rs2921009	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2945846	0.85[EUR][1000 genomes]
rs2945847	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2945910	0.81[CHB][hapmap]
rs2976887	0.81[CHB][hapmap]
rs2979134	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2979166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869874	chr8:7753583-8229906	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
2	nsv817196	chr8:8079861-8255544	Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv465448	chr8:8098079-8403142	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv610152	chr8:8098079-8403142	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv610153	chr8:8098079-8454531	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv610154	chr8:8101641-8328101	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1032259	chr8:8108863-8247113	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1020290	chr8:8108863-8260280	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv539440	chr8:8108863-8260280	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv1029268	chr8:8130629-8403435	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv539446	chr8:8130629-8403435	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
15	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
16	nsv831227	chr8:8204838-8367160	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv610157	chr8:8207339-8232143	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
19	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2976972	DEFB134	cis	cerebellum	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8220200-8230000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:8220200-8233000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:8220400-8228200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:8220400-8228200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:8220400-8229400	Weak transcription	Primary T cells from cord blood	blood
6	chr8:8220400-8229400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:8220400-8229400	Weak transcription	Esophagus	oesophagus
8	chr8:8220400-8229800	Weak transcription	Psoas Muscle	Psoas
9	chr8:8220400-8230000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:8220400-8230400	Weak transcription	Brain Angular Gyrus	brain
11	chr8:8220400-8230600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:8220400-8231200	Weak transcription	Hela-S3	cervix
13	chr8:8220400-8231800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr8:8220400-8232000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr8:8220400-8233600	Weak transcription	Aorta	Aorta
16	chr8:8220400-8233600	Weak transcription	Fetal Stomach	stomach
17	chr8:8220400-8233600	Weak transcription	Lung	lung
18	chr8:8220400-8233800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:8220400-8234000	Weak transcription	Pancreas	Pancrea
20	chr8:8220400-8237400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:8220400-8241800	Weak transcription	NHDF-Ad	bronchial
22	chr8:8220600-8229000	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:8220600-8229600	Weak transcription	Left Ventricle	heart
24	chr8:8220600-8229800	Weak transcription	Ovary	ovary
25	chr8:8220600-8230000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:8220600-8230000	Weak transcription	Right Ventricle	heart
27	chr8:8220600-8234000	Weak transcription	Dnd41	blood
28	chr8:8221000-8229200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr8:8221000-8230400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr8:8221000-8233600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:8221000-8239800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:8221200-8229800	Weak transcription	Fetal Brain Male	brain
33	chr8:8221800-8236600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:8221800-8240000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:8222000-8240600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:8222400-8231800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:8222400-8233000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr8:8222600-8231200	Weak transcription	Placenta	Placenta
39	chr8:8222600-8240000	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:8222600-8240200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr8:8222600-8240400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:8222800-8240000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:8223000-8240000	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr8:8223400-8231400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:8224000-8229600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:8224600-8228200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:8224600-8229600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr8:8224600-8233400	Weak transcription	Spleen	Spleen
49	chr8:8224800-8229800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr8:8225000-8229600	Weak transcription	NHEK	skin

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