Variant report

Variant	rs3176547
Chromosome Location	chr7:48013023-48013024
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:48007920..48009959-chr7:48011968..48013764,2	MCF-7	breast:
2	chr7:48012479..48015333-chr7:48016657..48019196,7	MCF-7	breast:
3	chr7:47978394..47981153-chr7:48011977..48014017,2	K562	blood:
4	chr7:48012956..48017232-chr7:48017620..48020627,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136273	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10268347	0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10279520	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11975500	1.00[AMR][1000 genomes]
rs11976586	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3176525	0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3176609	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60024640	1.00[AMR][1000 genomes]
rs6964188	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47999600-48017600	Strong transcription	Primary T cells from cord blood	blood
2	chr7:47999600-48018000	Strong transcription	Fetal Thymus	thymus
3	chr7:48000200-48016600	Strong transcription	Liver	Liver
4	chr7:48000200-48017800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:48000400-48016800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:48000400-48017600	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr7:48000400-48017600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr7:48000400-48017600	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:48000400-48017800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:48000400-48017800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:48000600-48015800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:48000600-48017600	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:48001600-48017600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:48002000-48018200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:48005800-48013800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:48007200-48013600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:48007200-48013800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:48007400-48018200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr7:48007600-48013800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:48007800-48013400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:48007800-48013800	Weak transcription	Dnd41	blood
22	chr7:48007800-48015400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:48008600-48016200	Weak transcription	Psoas Muscle	Psoas
24	chr7:48009200-48013400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:48009200-48016800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr7:48009400-48013200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:48009600-48018000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:48009800-48018000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:48010000-48018000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr7:48010200-48013400	Weak transcription	GM12878-XiMat	blood
31	chr7:48010200-48017600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:48010200-48017800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:48010200-48017800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:48010200-48018200	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:48010400-48017600	Strong transcription	Stomach Smooth Muscle	stomach
36	chr7:48010400-48018000	Strong transcription	Fetal Muscle Leg	muscle
37	chr7:48010400-48018200	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:48010600-48017800	Strong transcription	Brain Anterior Caudate	brain
39	chr7:48010600-48018000	Strong transcription	Primary B cells from cord blood	blood
40	chr7:48010600-48018000	Strong transcription	Fetal Lung	lung
41	chr7:48010800-48016800	Strong transcription	Adipose Nuclei	Adipose
42	chr7:48010800-48017200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:48010800-48017600	Strong transcription	Hela-S3	cervix
44	chr7:48010800-48018000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr7:48010800-48018000	Strong transcription	Placenta	Placenta
46	chr7:48010800-48018000	Strong transcription	Fetal Stomach	stomach
47	chr7:48010800-48018000	Strong transcription	Spleen	Spleen
48	chr7:48011000-48016200	Strong transcription	Aorta	Aorta
49	chr7:48011000-48017200	Strong transcription	Brain Germinal Matrix	brain
50	chr7:48011000-48017400	Strong transcription	Lung	lung

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