Variant report

Variant	rs9858124
Chromosome Location	chr3:118929881-118929882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:118914548..118916696-chr3:118929232..118931834,2	K562	blood:
2	chr3:118926942..118931120-chr3:118957602..118962247,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121578	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10511384	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12690556	0.89[ASN][1000 genomes]
rs12695382	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12695383	0.95[ASN][1000 genomes]
rs13070981	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13091429	0.95[ASN][1000 genomes]
rs13094747	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13098659	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2001286	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28587867	0.87[ASN][1000 genomes]
rs28668839	0.90[ASN][1000 genomes]
rs28885082	0.89[ASN][1000 genomes]
rs35816234	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3752376	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3752377	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3796358	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57446248	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59140322	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59448071	0.95[ASN][1000 genomes]
rs68103027	0.85[ASN][1000 genomes]
rs71325367	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7650288	0.96[ASN][1000 genomes]
rs9289125	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9812715	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9818595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9824387	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9832248	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9834466	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9835060	0.89[EUR][1000 genomes]
rs9836230	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9837110	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9844382	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9849672	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9850349	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9857127	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9862321	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9867379	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9869645	0.89[ASN][1000 genomes]
rs9874573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9879593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9881379	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9881947	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv591362	chr3:118906442-118948155	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118904600-118936400	Weak transcription	Gastric	stomach
2	chr3:118911800-118932600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:118915200-118934800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:118920400-118930400	Weak transcription	Fetal Kidney	kidney
5	chr3:118921400-118931200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:118923600-118930800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr3:118923800-118931600	Enhancers	Stomach Mucosa	stomach
8	chr3:118924200-118931600	Weak transcription	NHDF-Ad	bronchial
9	chr3:118924400-118933200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:118924400-118959000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr3:118924600-118930000	Weak transcription	Osteobl	bone
12	chr3:118924600-118930200	Weak transcription	Fetal Lung	lung
13	chr3:118924600-118945600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:118924800-118931200	Weak transcription	Right Ventricle	heart
15	chr3:118925600-118930000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr3:118925800-118930000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:118925800-118930200	Weak transcription	Esophagus	oesophagus
18	chr3:118925800-118930200	Weak transcription	Small Intestine	intestine
19	chr3:118925800-118930800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:118926000-118930000	Weak transcription	Primary B cells from cord blood	blood
21	chr3:118926000-118931600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:118926200-118930200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr3:118926200-118931800	Weak transcription	Colon Smooth Muscle	Colon
24	chr3:118926200-118939400	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr3:118926400-118931400	Weak transcription	NHLF	lung
26	chr3:118926600-118930000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:118926600-118930000	Weak transcription	Dnd41	blood
28	chr3:118926600-118930200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr3:118926600-118930800	Weak transcription	HUVEC	blood vessel
30	chr3:118926600-118931000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:118926600-118937000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr3:118926600-118937600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr3:118926800-118930200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:118926800-118930200	Weak transcription	Brain Angular Gyrus	brain
35	chr3:118926800-118930200	Weak transcription	HMEC	breast
36	chr3:118926800-118931000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr3:118926800-118934400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr3:118927000-118930400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:118927000-118943200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr3:118927000-118952600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:118927000-118953800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr3:118927000-118953800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:118927200-118932400	Weak transcription	Fetal Thymus	thymus
44	chr3:118927200-118932600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:118927200-118937400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:118927200-118939800	Strong transcription	Liver	Liver
47	chr3:118927200-118943000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:118927200-118953800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:118927200-118955200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr3:118927400-118930400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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