Variant report

Variant	rs331378
Chromosome Location	chr9:95269320-95269321
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95267270..95270140-chr9:95362878..95365869,2	MCF-7	breast:
2	chr9:95268933..95272966-chr9:95273116..95276340,3	K562	blood:
3	chr9:95252580..95255357-chr9:95268948..95271253,2	MCF-7	breast:
4	chr9:95267629..95269847-chr9:95430934..95432536,2	MCF-7	breast:
5	chr9:95268173..95269920-chr9:95396412..95398691,2	K562	blood:
6	chr9:95266941..95269572-chr9:95384488..95386280,2	MCF-7	breast:
7	chr9:95268662..95271530-chr9:95273359..95275771,3	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2296665	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs230223	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1047337	chr9:95105638-95347484	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv1822933	chr9:95255176-95293308	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95252600-95269400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:95255000-95274600	Weak transcription	Liver	Liver
3	chr9:95255400-95269400	Weak transcription	Right Ventricle	heart
4	chr9:95262200-95269800	Weak transcription	Fetal Thymus	thymus
5	chr9:95262200-95270000	Weak transcription	Brain Anterior Caudate	brain
6	chr9:95264600-95270000	Weak transcription	Lung	lung
7	chr9:95264800-95270000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:95266000-95270400	Enhancers	Colon Smooth Muscle	Colon
9	chr9:95266400-95269400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:95266400-95270000	Enhancers	Osteobl	bone
11	chr9:95266600-95270400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:95266600-95270800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:95266600-95271800	Enhancers	Fetal Muscle Leg	muscle
14	chr9:95266800-95270800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr9:95267000-95269800	Weak transcription	Left Ventricle	heart
16	chr9:95267000-95270000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:95267000-95271000	Enhancers	Fetal Stomach	stomach
18	chr9:95267200-95269800	Weak transcription	Right Atrium	heart
19	chr9:95267200-95270200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr9:95267200-95271400	Enhancers	Adipose Nuclei	Adipose
21	chr9:95267400-95269800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr9:95267400-95269800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr9:95267800-95269400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:95268200-95269400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr9:95268200-95271400	Enhancers	Fetal Lung	lung
26	chr9:95268200-95271400	Enhancers	Ovary	ovary
27	chr9:95268400-95269400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr9:95268400-95269600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr9:95268400-95269800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:95268400-95274000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr9:95268600-95269800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr9:95268600-95270400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:95268600-95270400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:95268600-95270400	Enhancers	HSMM	muscle
35	chr9:95268600-95270800	Enhancers	NHDF-Ad	bronchial
36	chr9:95268600-95270800	Enhancers	NHLF	lung
37	chr9:95268600-95271200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:95268600-95271200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr9:95268600-95278600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr9:95268800-95269600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr9:95268800-95269800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr9:95268800-95269800	Enhancers	A549	lung
43	chr9:95268800-95270000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr9:95268800-95270000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:95268800-95270800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr9:95269000-95269800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr9:95269000-95269800	Enhancers	Stomach Smooth Muscle	stomach
48	chr9:95269000-95270000	Weak transcription	Aorta	Aorta
49	chr9:95269000-95270000	Enhancers	Rectal Smooth Muscle	rectum
50	chr9:95269000-95270200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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