Variant report

Variant	rs62532548
Chromosome Location	chr9:14205054-14205055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14198598..14200536-chr9:14204416..14206854,2	MCF-7	breast:
2	chr9:14203657..14206657-chr9:14311874..14315004,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147862	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34115564	1.00[ASN][1000 genomes]
rs62532513	1.00[ASN][1000 genomes]
rs62532547	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62532553	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	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv892593	chr9:13948798-14233159	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1023303	chr9:14025605-14286269	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv540069	chr9:14025605-14286269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv429998	chr9:14043516-14214688	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv892596	chr9:14145487-14208724	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv892597	chr9:14163383-14233159	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv972651	chr9:14203791-14205781	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14192800-14207400	Weak transcription	Spleen	Spleen
2	chr9:14192800-14213400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:14196000-14205400	Enhancers	Fetal Lung	lung
4	chr9:14199000-14209200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:14199200-14209600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr9:14199400-14205600	Weak transcription	Small Intestine	intestine
7	chr9:14199400-14207400	Weak transcription	Esophagus	oesophagus
8	chr9:14199400-14207400	Weak transcription	Gastric	stomach
9	chr9:14199400-14209400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:14199400-14215800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr9:14200200-14205400	Weak transcription	NHDF-Ad	bronchial
12	chr9:14200200-14207200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr9:14200200-14207400	Weak transcription	Lung	lung
14	chr9:14201200-14220000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:14203000-14206600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr9:14203000-14212000	Weak transcription	Fetal Intestine Small	intestine
17	chr9:14203600-14205200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr9:14203600-14205400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr9:14203800-14205400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:14203800-14205400	Weak transcription	HSMM	muscle
21	chr9:14203800-14206400	Enhancers	HUVEC	blood vessel
22	chr9:14203800-14207000	Weak transcription	Brain Germinal Matrix	brain
23	chr9:14203800-14207400	Weak transcription	Brain Anterior Caudate	brain
24	chr9:14203800-14207800	Enhancers	Osteobl	bone
25	chr9:14203800-14209600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr9:14203800-14211600	Weak transcription	HSMMtube	muscle
27	chr9:14203800-14214200	Weak transcription	Brain Substantia Nigra	brain
28	chr9:14203800-14217200	Enhancers	Fetal Heart	heart
29	chr9:14203800-14219000	Weak transcription	Ovary	ovary
30	chr9:14203800-14221800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr9:14204000-14205400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:14204000-14205400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:14204000-14205400	Weak transcription	Adipose Nuclei	Adipose
34	chr9:14204000-14205400	Weak transcription	Colon Smooth Muscle	Colon
35	chr9:14204000-14205400	Weak transcription	Stomach Mucosa	stomach
36	chr9:14204000-14206800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr9:14204000-14209000	Weak transcription	Brain Hippocampus Middle	brain
38	chr9:14204000-14211800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:14204000-14213000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr9:14204000-14221800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr9:14204200-14205400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:14204200-14211600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr9:14204400-14205400	Weak transcription	Fetal Brain Female	brain
44	chr9:14204400-14205400	Weak transcription	Fetal Stomach	stomach
45	chr9:14204400-14205400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr9:14204400-14206400	Enhancers	NHLF	lung
47	chr9:14204400-14206800	Enhancers	Fetal Muscle Leg	muscle
48	chr9:14204400-14208200	Enhancers	Liver	Liver
49	chr9:14204400-14208800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr9:14204400-14209000	Weak transcription	Fetal Brain Male	brain

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