Variant report

Variant	rs7857183
Chromosome Location	chr9:96332044-96332045
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr9:96331857-96332265	NB4	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96331225..96334018-chr9:96347470..96349122,2	K562	blood:
2	chr9:96286264..96288852-chr9:96329560..96332298,3	MCF-7	breast:
3	chr9:96210381..96218248-chr9:96327402..96333234,10	MCF-7	breast:
4	chr9:96318350..96320504-chr9:96329383..96332231,2	MCF-7	breast:
5	chr9:96327412..96330304-chr9:96331068..96333359,2	K562	blood:
6	chr9:96205732..96207366-chr9:96330397..96333362,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000263875	TF binding region
ENSG00000048828	Chromatin interaction
ENSG00000263875	Chromatin interaction
ENSG00000188938	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10046907	0.81[YRI][hapmap]
rs10429558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10761236	0.82[ASN][1000 genomes]
rs11975	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12341488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12554020	0.83[CHB][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3815563	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4552973	0.81[CHB][hapmap];0.83[JPT][hapmap];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs59483310	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59582399	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60076242	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6479482	0.83[EUR][1000 genomes]
rs6479483	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6479487	0.82[AMR][1000 genomes]
rs6479494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479495	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7020459	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7023933	0.81[AMR][1000 genomes]
rs7025805	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7028729	0.83[EUR][1000 genomes]
rs7035657	0.80[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7036984	0.80[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7048853	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7850322	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7853605	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7859267	0.88[CHB][hapmap]
rs7860098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7862998	0.83[EUR][1000 genomes]
rs7870210	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1041803	chr9:96299639-96342013	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv824984	chr9:96310933-96375022	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7857183	RP11-165J3.6	cis	Esophagus Muscularis	GTEx
rs7857183	RP11-165J3.6	cis	Skin Sun Exposed Lower leg	GTEx
rs7857183	RP11-165J3.6	cis	Thyroid	GTEx

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96329600-96332200	Enhancers	Spleen	Spleen
2	chr9:96329800-96333000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:96330000-96332600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr9:96330000-96333000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr9:96330000-96333200	Weak transcription	A549	lung
6	chr9:96330000-96337200	Weak transcription	NHLF	lung
7	chr9:96330000-96337400	Weak transcription	Hela-S3	cervix
8	chr9:96330000-96337400	Weak transcription	HSMM	muscle
9	chr9:96330200-96332600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr9:96330200-96332800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:96330200-96332800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:96330200-96332800	Weak transcription	Fetal Brain Female	brain
13	chr9:96330200-96333000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:96330200-96333000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr9:96330200-96333200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr9:96330200-96333200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:96330200-96333800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:96330200-96335200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:96330200-96335200	Weak transcription	Left Ventricle	heart
20	chr9:96330200-96335600	Weak transcription	Esophagus	oesophagus
21	chr9:96330200-96336400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr9:96330200-96336400	Weak transcription	Brain Substantia Nigra	brain
23	chr9:96330200-96336600	Weak transcription	Primary T cells from cord blood	blood
24	chr9:96330200-96336600	Weak transcription	Lung	lung
25	chr9:96330200-96336800	Weak transcription	Colon Smooth Muscle	Colon
26	chr9:96330200-96336800	Weak transcription	Fetal Lung	lung
27	chr9:96330200-96337000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr9:96330200-96337000	Weak transcription	Fetal Intestine Small	intestine
29	chr9:96330200-96337000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr9:96330200-96337200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:96330200-96337200	Weak transcription	Aorta	Aorta
32	chr9:96330200-96337200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr9:96330200-96337200	Weak transcription	Colonic Mucosa	Colon
34	chr9:96330200-96337200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr9:96330200-96337200	Weak transcription	Osteobl	bone
36	chr9:96330200-96337400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr9:96330200-96337400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr9:96330200-96337400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr9:96330200-96337400	Weak transcription	Psoas Muscle	Psoas
40	chr9:96330200-96337400	Weak transcription	NHEK	skin
41	chr9:96330200-96337600	Weak transcription	Right Atrium	heart
42	chr9:96330400-96337000	Weak transcription	Fetal Heart	heart
43	chr9:96330800-96337200	Weak transcription	Pancreas	Pancrea
44	chr9:96331000-96334800	Weak transcription	Fetal Thymus	thymus
45	chr9:96331000-96335800	Weak transcription	Placenta	Placenta
46	chr9:96331000-96336800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr9:96331000-96336800	Weak transcription	Gastric	stomach
48	chr9:96331000-96336800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr9:96331000-96337000	Weak transcription	Fetal Stomach	stomach
50	chr9:96331400-96332400	Enhancers	Primary B cells from cord blood	blood

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