Variant report

Variant	rs4979348
Chromosome Location	chr9:116941762-116941763
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116940947..116942974-chr9:116968939..116970805,2	MCF-7	breast:
2	chr9:116938315..116939926-chr9:116941668..116944207,2	MCF-7	breast:
3	chr9:116940464..116942565-chr9:116943951..116946533,3	K562	blood:
4	chr9:116932183..116936074-chr9:116938591..116942808,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1388095	1.00[AFR][1000 genomes]
rs4979364	1.00[AFR][1000 genomes]
rs57051248	1.00[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	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
3	esv2422492	chr9:116811294-117366643	Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
4	esv2761285	chr9:116811897-117103268	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
5	nsv870215	chr9:116842614-117070344	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	124 gene(s)	inside rSNPs	diseases
6	nsv893752	chr9:116899258-116944333	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv466532	chr9:116930100-116957958	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv615232	chr9:116930100-116957958	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv466533	chr9:116930100-117248479	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	128 gene(s)	inside rSNPs	diseases
10	nsv615233	chr9:116930100-117248479	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	128 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116919200-116972000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:116926200-116943800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr9:116926400-116950200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr9:116926400-116950400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr9:116930600-116954400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:116931000-116946400	Genic enhancers	Fetal Stomach	stomach
7	chr9:116931000-116971800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr9:116932800-116943800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:116932800-116971800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr9:116934400-116942800	Enhancers	Colon Smooth Muscle	Colon
11	chr9:116934800-116942000	Enhancers	Rectal Smooth Muscle	rectum
12	chr9:116935000-116946600	Enhancers	Liver	Liver
13	chr9:116935200-116942000	Enhancers	Pancreas	Pancrea
14	chr9:116935200-116944800	Enhancers	Fetal Heart	heart
15	chr9:116935200-116944800	Enhancers	Left Ventricle	heart
16	chr9:116935200-116945400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr9:116936400-116944400	Enhancers	Placenta	Placenta
18	chr9:116936600-116941800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:116936600-116941800	Enhancers	Psoas Muscle	Psoas
20	chr9:116937600-116943000	Weak transcription	Colonic Mucosa	Colon
21	chr9:116937600-116943000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr9:116937600-116943000	Weak transcription	Stomach Mucosa	stomach
23	chr9:116937800-116943000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:116937800-116943400	Weak transcription	Brain Substantia Nigra	brain
25	chr9:116938000-116942800	Weak transcription	Fetal Thymus	thymus
26	chr9:116938000-116943200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:116938000-116956200	Weak transcription	Gastric	stomach
28	chr9:116938600-116941800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr9:116938600-116942000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr9:116938600-116942000	Enhancers	NHDF-Ad	bronchial
31	chr9:116938600-116944000	Enhancers	Right Ventricle	heart
32	chr9:116938800-116943600	Weak transcription	Brain Anterior Caudate	brain
33	chr9:116939000-116944200	Enhancers	Right Atrium	heart
34	chr9:116939200-116942200	Enhancers	Adipose Nuclei	Adipose
35	chr9:116939200-116948800	Weak transcription	Brain Germinal Matrix	brain
36	chr9:116939400-116941800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr9:116939400-116967200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:116939600-116941800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:116939600-116943200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr9:116939800-116943200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr9:116940000-116942800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr9:116940000-116943800	Weak transcription	Fetal Kidney	kidney
43	chr9:116940200-116943800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:116940200-116950000	Genic enhancers	Fetal Muscle Leg	muscle
45	chr9:116940400-116941800	Enhancers	Esophagus	oesophagus
46	chr9:116940400-116941800	Enhancers	Spleen	Spleen
47	chr9:116940400-116942800	Genic enhancers	Fetal Muscle Trunk	muscle
48	chr9:116940400-116946200	Weak transcription	Hela-S3	cervix
49	chr9:116940400-116965200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr9:116940600-116941800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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