Variant report

Variant	rs679547
Chromosome Location	chr9:136839733-136839734
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136836160..136840287-chr9:136840459..136843890,5	MCF-7	breast:
2	chr9:136834147..136836110-chr9:136837222..136840817,3	MCF-7	breast:
3	chr9:136819196..136821510-chr9:136837894..136840389,2	K562	blood:
4	chr9:136743217..136745167-chr9:136838200..136840998,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2519134	0.93[ASN][1000 genomes]
rs678744	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs679106	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs809737	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894123	chr9:136682408-136852501	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv894124	chr9:136716399-136870787	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised 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	23 gene(s)	inside rSNPs	diseases
3	nsv894125	chr9:136723520-136931957	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv894128	chr9:136753246-136906752	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1046310	chr9:136762829-136872226	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription 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
6	nsv894130	chr9:136767346-136906752	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS 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 target site	25 gene(s)	inside rSNPs	diseases
7	nsv831748	chr9:136788484-136944326	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv894131	chr9:136792765-136906752	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv831749	chr9:136809200-136915764	Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv894132	chr9:136813341-136950691	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv428226	chr9:136825035-136994606	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
12	nsv615743	chr9:136835343-136874158	Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136832000-136840800	Enhancers	Primary B cells from cord blood	blood
2	chr9:136832400-136842400	Enhancers	Primary B cells from peripheral blood	blood
3	chr9:136832600-136843800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr9:136832800-136844200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:136833200-136839800	Enhancers	Fetal Brain Female	brain
6	chr9:136833600-136839800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:136833600-136839800	Enhancers	Fetal Muscle Leg	muscle
8	chr9:136833600-136842000	Enhancers	Pancreas	Pancrea
9	chr9:136833800-136840200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:136834000-136840000	Enhancers	Fetal Muscle Trunk	muscle
11	chr9:136834000-136840400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:136834200-136840400	Enhancers	Spleen	Spleen
13	chr9:136835000-136839800	Enhancers	Gastric	stomach
14	chr9:136835000-136840000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr9:136835200-136848600	Enhancers	Fetal Intestine Large	intestine
16	chr9:136835400-136840000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr9:136835400-136848800	Genic enhancers	Fetal Intestine Small	intestine
18	chr9:136835600-136840200	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr9:136835600-136840600	Enhancers	Stomach Mucosa	stomach
20	chr9:136835800-136854800	Weak transcription	A549	lung
21	chr9:136836000-136840400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr9:136836600-136840000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr9:136836800-136843800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr9:136836800-136844000	Weak transcription	NHDF-Ad	bronchial
25	chr9:136837200-136842400	Weak transcription	NHLF	lung
26	chr9:136837400-136840400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:136837400-136840800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:136837400-136842000	Weak transcription	Ovary	ovary
29	chr9:136837400-136851400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr9:136837400-136854800	Weak transcription	HMEC	breast
31	chr9:136837600-136845000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr9:136837600-136845000	Weak transcription	Fetal Kidney	kidney
33	chr9:136837800-136844000	Weak transcription	Colon Smooth Muscle	Colon
34	chr9:136837800-136850600	Weak transcription	NHEK	skin
35	chr9:136838000-136854800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr9:136838200-136839800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr9:136838400-136840200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:136838400-136840200	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr9:136838400-136840600	Enhancers	Lung	lung
40	chr9:136838400-136841600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:136838400-136841600	Weak transcription	Fetal Stomach	stomach
42	chr9:136838600-136839800	Enhancers	HUVEC	blood vessel
43	chr9:136838600-136840200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr9:136838800-136839800	Flanking Active TSS	Liver	Liver
45	chr9:136838800-136840000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr9:136838800-136840200	Enhancers	Right Atrium	heart
47	chr9:136838800-136840200	Enhancers	Right Ventricle	heart
48	chr9:136838800-136841000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr9:136839000-136839800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:136839000-136839800	Enhancers	Adipose Nuclei	Adipose

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