Variant report

Variant	rs1547628
Chromosome Location	chr9:85882803-85882804
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr9:85881384-85883140	HUVEC	blood vessel:	n/a	chr9:85882387-85882394 chr9:85882385-85882394 chr9:85882387-85882394 chr9:85882387-85882394 chr9:85882376-85882393

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:85833317..85835949-chr9:85882469..85885385,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf103-5	chr9:85882090-85885748	NONHSAT132734

Variant related genes	Relation type
FRMD3	TF binding region
ENSG00000229109	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10735562	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10780584	1.00[CEU][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10780586	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10867968	1.00[CEU][hapmap];0.94[YRI][hapmap]
rs10867972	1.00[CEU][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs11792963	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1323777	0.85[CEU][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs1323780	1.00[CEU][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs1359169	1.00[ASW][hapmap];0.82[CEU][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1535746	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1570582	0.82[CEU][hapmap]
rs4877250	0.82[CEU][hapmap]
rs6559719	0.82[CEU][hapmap]
rs7872136	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs942281	1.00[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes]
rs9695210	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046491	chr9:85861492-86063992	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv6586	chr9:85869828-85914812	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:85854800-85890400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr9:85856200-85910600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr9:85866200-85913000	Weak transcription	Aorta	Aorta
4	chr9:85880600-85883200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:85881200-85883000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr9:85881400-85883000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr9:85881400-85883000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:85881400-85883800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:85881600-85883000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr9:85881600-85883200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr9:85881600-85889000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:85881800-85883000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr9:85882000-85885000	Weak transcription	Spleen	Spleen
14	chr9:85882000-85886600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:85882000-85895800	Weak transcription	Fetal Kidney	kidney
16	chr9:85882000-85895800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr9:85882200-85883000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr9:85882200-85883200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr9:85882200-85883600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr9:85882200-85884800	Weak transcription	Left Ventricle	heart
21	chr9:85882200-85884800	Weak transcription	Psoas Muscle	Psoas
22	chr9:85882200-85884800	Weak transcription	Right Atrium	heart
23	chr9:85882200-85884800	Weak transcription	Right Ventricle	heart
24	chr9:85882200-85885000	Weak transcription	Fetal Muscle Leg	muscle
25	chr9:85882200-85886600	Weak transcription	Adipose Nuclei	Adipose
26	chr9:85882200-85886600	Enhancers	Fetal Heart	heart
27	chr9:85882200-85887200	Enhancers	HUVEC	blood vessel
28	chr9:85882200-85889400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:85882200-85889400	Weak transcription	Fetal Stomach	stomach
30	chr9:85882200-85889800	Weak transcription	Pancreas	Pancrea
31	chr9:85882200-85895800	Weak transcription	Gastric	stomach
32	chr9:85882200-85895800	Weak transcription	Ovary	ovary
33	chr9:85882200-85896000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr9:85882400-85886400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:85882600-85883000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr9:85882600-85883200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:85882600-85883600	Weak transcription	HepG2	liver
38	chr9:85882800-85883000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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