Variant report

Variant	rs583365
Chromosome Location	chr9:97365030-97365031
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97363454..97366255-chr9:97375188..97377706,2	K562	blood:
2	chr9:97343362..97346038-chr9:97364705..97367422,2	MCF-7	breast:
3	chr9:97364234..97367313-chr9:97400419..97403811,3	MCF-7	breast:
4	chr9:97315259..97318533-chr9:97363918..97367292,6	MCF-7	breast:
5	chr9:97315606..97319704-chr9:97363491..97367544,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231806	Chromatin interaction
ENSG00000165140	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1042144	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10821376	0.84[EUR][1000 genomes]
rs10993275	0.83[EUR][1000 genomes]
rs10993277	0.84[EUR][1000 genomes]
rs10993278	0.83[EUR][1000 genomes]
rs12238876	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13284668	0.88[EUR][1000 genomes]
rs13291835	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13296485	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16937175	0.86[EUR][1000 genomes]
rs1754435	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1754439	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2296708	0.88[EUR][1000 genomes]
rs2460138	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2679599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2679600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2679602	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2772022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2790390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28369670	0.85[EUR][1000 genomes]
rs2945802	0.91[AFR][1000 genomes]
rs2987882	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2987897	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2993905	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2993912	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2993958	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2993959	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2993961	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2993962	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3896183	0.84[EUR][1000 genomes]
rs4075984	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4743961	0.88[EUR][1000 genomes]
rs4744362	0.88[EUR][1000 genomes]
rs479197	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs514222	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs515339	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs518768	0.91[AFR][1000 genomes]
rs540124	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs543731	0.91[AFR][1000 genomes]
rs547834	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548348	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs576745	0.94[EUR][1000 genomes]
rs590090	0.82[AFR][1000 genomes]
rs632506	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs652867	0.84[AFR][1000 genomes]
rs67721291	0.88[EUR][1000 genomes]
rs688843	0.91[AFR][1000 genomes]
rs693399	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs781650	0.91[AFR][1000 genomes]
rs802918	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs8192689	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs874248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	esv1840205	chr9:97202200-97366400	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
4	nsv466436	chr9:97343620-97369149	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv614917	chr9:97343620-97369149	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97347600-97374000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr9:97351800-97369200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:97356400-97365600	Weak transcription	Psoas Muscle	Psoas
4	chr9:97358000-97368800	Weak transcription	Gastric	stomach
5	chr9:97362600-97367000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr9:97362800-97365600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:97363200-97365400	Weak transcription	Stomach Mucosa	stomach
8	chr9:97363200-97365600	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:97363200-97365600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr9:97363400-97365600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr9:97363400-97366000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:97363600-97365400	Weak transcription	Colonic Mucosa	Colon
13	chr9:97363600-97365400	Weak transcription	Fetal Intestine Large	intestine
14	chr9:97363600-97365400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr9:97363600-97365400	Weak transcription	HepG2	liver
16	chr9:97364200-97365200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:97364400-97382800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr9:97364600-97365800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr9:97364800-97365200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr9:97364800-97365600	Weak transcription	Fetal Stomach	stomach
21	chr9:97364800-97382800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr9:97365000-97365200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:97365000-97365400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr9:97365000-97365400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr9:97365000-97365600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr9:97365000-97365600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr9:97365000-97365800	Enhancers	Pancreas	Pancrea
28	chr9:97365000-97375400	Genic enhancers	Fetal Intestine Small	intestine
29	chr9:97365000-97376200	Genic enhancers	Liver	Liver

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