Variant report

Variant	rs6996347
Chromosome Location	chr8:8177117-8177118
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	chr8:8151372..8154142-chr8:8175847..8177840,2	MCF-7	breast:
2	chr8:8176191..8177964-chr8:8181508..8183686,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11776196	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12549973	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13269488	0.91[ASN][1000 genomes]
rs13276576	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13281575	0.86[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];0.87[ASN][1000 genomes]
rs1401389	0.87[ASN][1000 genomes]
rs4840922	0.89[ASN][1000 genomes]
rs4840923	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6601690	0.88[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7011400	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs867757	0.85[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915915	chr8:7239471-8222024	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	76 gene(s)	inside rSNPs	diseases
2	nsv533299	chr8:7268825-8222024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	75 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	nsv610156	chr8:8163243-8207339	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6996347	DEFB134	cis	cerebellum	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8168400-8180600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:8168800-8181400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:8168800-8187400	Weak transcription	Small Intestine	intestine
4	chr8:8169000-8181200	Weak transcription	Brain Angular Gyrus	brain
5	chr8:8169000-8181400	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:8170600-8184000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:8171000-8181400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:8172200-8182400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:8173000-8181400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:8173000-8182400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:8173000-8182400	Weak transcription	Psoas Muscle	Psoas
12	chr8:8173800-8177400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:8173800-8178400	Strong transcription	Fetal Muscle Leg	muscle
14	chr8:8173800-8187000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:8173800-8188200	Strong transcription	Primary T cells from cord blood	blood
16	chr8:8174000-8178400	Strong transcription	Adipose Nuclei	Adipose
17	chr8:8174000-8181400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:8174000-8181600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:8174000-8187800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr8:8174200-8178200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:8174200-8180400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:8174200-8187000	Weak transcription	Hela-S3	cervix
23	chr8:8174200-8187200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr8:8174400-8177200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr8:8174400-8178000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:8174400-8180200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:8174400-8181600	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr8:8174600-8177200	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr8:8174600-8178000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:8174600-8178200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:8174600-8181600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:8174600-8183000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr8:8174600-8187200	Strong transcription	Fetal Intestine Small	intestine
34	chr8:8174600-8188200	Weak transcription	Fetal Thymus	thymus
35	chr8:8174800-8178000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr8:8174800-8186800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:8175000-8177400	Weak transcription	HepG2	liver
38	chr8:8175000-8181200	Weak transcription	Brain Anterior Caudate	brain
39	chr8:8175000-8181400	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:8175000-8181400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr8:8175000-8181600	Weak transcription	Stomach Mucosa	stomach
42	chr8:8175200-8177200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr8:8175200-8177400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr8:8175200-8177600	Weak transcription	HSMMtube	muscle
45	chr8:8175200-8178000	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:8175200-8178000	Weak transcription	Fetal Lung	lung
47	chr8:8175200-8180200	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr8:8175200-8181400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:8175200-8189400	Weak transcription	Liver	Liver
50	chr8:8175400-8177200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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