Variant report

Variant	rs4548257
Chromosome Location	chr9:116288598-116288599
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	chr9:116243183..116244833-chr9:116288519..116290326,2	K562	blood:

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

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

rs_ID	r²[population]
rs12341266	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2039224	0.83[EUR][1000 genomes]
rs2622268	0.89[EUR][1000 genomes]
rs2812397	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4979259	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs590963	0.89[EUR][1000 genomes]
rs591354	0.88[EUR][1000 genomes]
rs785101	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription 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 miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS 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	13 gene(s)	inside rSNPs	diseases
3	nsv466508	chr9:116244982-116362738	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS 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	9 gene(s)	inside rSNPs	diseases
4	nsv615215	chr9:116244982-116362738	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116264000-116291200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:116264800-116298400	Weak transcription	Brain Germinal Matrix	brain
3	chr9:116269000-116288600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:116269400-116303000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr9:116269600-116298400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr9:116270400-116289200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:116270400-116290600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:116277200-116298600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:116277600-116298600	Weak transcription	Fetal Brain Female	brain
10	chr9:116282800-116295600	Strong transcription	HepG2	liver
11	chr9:116284400-116290600	Enhancers	Fetal Lung	lung
12	chr9:116284600-116289400	Genic enhancers	Spleen	Spleen
13	chr9:116284600-116290200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr9:116284600-116290800	Genic enhancers	Fetal Stomach	stomach
15	chr9:116284800-116289600	Enhancers	Right Atrium	heart
16	chr9:116284800-116290400	Enhancers	Fetal Heart	heart
17	chr9:116285200-116290600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr9:116285800-116288800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:116285800-116289000	Enhancers	Adipose Nuclei	Adipose
20	chr9:116285800-116289000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
21	chr9:116285800-116290400	Weak transcription	A549	lung
22	chr9:116286200-116288800	Genic enhancers	HUVEC	blood vessel
23	chr9:116286200-116290400	Enhancers	Brain Hippocampus Middle	brain
24	chr9:116286200-116291000	Enhancers	Stomach Mucosa	stomach
25	chr9:116286400-116288600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr9:116286400-116288800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr9:116286400-116290000	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr9:116286400-116290600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:116286800-116288600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr9:116286800-116288800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr9:116286800-116288800	Enhancers	Left Ventricle	heart
32	chr9:116286800-116289600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr9:116286800-116290600	Enhancers	Rectal Smooth Muscle	rectum
34	chr9:116286800-116293000	Genic enhancers	Primary T cells fromperipheralblood	blood
35	chr9:116287000-116288600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr9:116287000-116289200	Weak transcription	NHLF	lung
37	chr9:116287000-116290800	Genic enhancers	Duodenum Mucosa	Duodenum
38	chr9:116287000-116311600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr9:116287200-116288600	Enhancers	Primary T cells from cord blood	blood
40	chr9:116287200-116289200	Strong transcription	Hela-S3	cervix
41	chr9:116287200-116290200	Enhancers	Brain Angular Gyrus	brain
42	chr9:116287200-116290800	Enhancers	Placenta	Placenta
43	chr9:116287400-116288600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr9:116287400-116288800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr9:116287400-116289000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:116287400-116289000	Enhancers	Lung	lung
47	chr9:116287400-116290400	Weak transcription	Gastric	stomach
48	chr9:116287400-116290600	Enhancers	Brain Anterior Caudate	brain
49	chr9:116287400-116290800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr9:116287400-116291600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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