Variant report

Variant	rs10122030
Chromosome Location	chr9:96353502-96353503
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96353488..96355423-chr9:96374627..96377387,2	K562	blood:
2	chr9:96337503..96341816-chr9:96349703..96353663,8	K562	blood:
3	chr9:96347503..96349844-chr9:96352338..96353951,2	K562	blood:
4	chr9:96353399..96355498-chr9:96360574..96362233,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197724	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10114689	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10116955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992814	0.90[CHB][hapmap]
rs10992816	0.90[CHB][hapmap]
rs10992821	0.86[CHB][hapmap]
rs10992824	0.89[CHB][hapmap]
rs10992826	0.90[CHB][hapmap]
rs10992838	0.90[CHB][hapmap]
rs11999013	0.93[CEU][hapmap]
rs12235863	0.90[CHB][hapmap]
rs12237139	0.89[CHB][hapmap]
rs16912647	0.90[CHB][hapmap]
rs1806673	0.90[CHB][hapmap]
rs2150751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2150752	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2398852	0.90[CHB][hapmap]
rs3750356	0.90[CHB][hapmap]
rs3750360	0.90[CHB][hapmap]
rs7040568	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7041943	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7864091	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs928369	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9644970	0.89[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96341400-96356000	Weak transcription	Hela-S3	cervix
2	chr9:96341600-96359600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr9:96341800-96362200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr9:96342200-96359600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr9:96342600-96357800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr9:96343400-96360600	Weak transcription	Dnd41	blood
7	chr9:96344800-96356400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr9:96345000-96355000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr9:96345000-96356400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr9:96345000-96362600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr9:96347400-96353800	Enhancers	Ovary	ovary
12	chr9:96347400-96355400	Enhancers	Pancreas	Pancrea
13	chr9:96347400-96359000	Enhancers	Left Ventricle	heart
14	chr9:96347600-96353600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr9:96347600-96355200	Enhancers	Right Atrium	heart
16	chr9:96347600-96355600	Enhancers	Right Ventricle	heart
17	chr9:96347600-96356200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:96347600-96360600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr9:96348000-96353800	Enhancers	Fetal Muscle Trunk	muscle
20	chr9:96348200-96354800	Weak transcription	Small Intestine	intestine
21	chr9:96348400-96354400	Enhancers	Brain Hippocampus Middle	brain
22	chr9:96348400-96356200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:96348400-96360200	Weak transcription	Primary B cells from cord blood	blood
24	chr9:96348400-96360200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr9:96349000-96365800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr9:96349400-96356200	Weak transcription	A549	lung
27	chr9:96350000-96355200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr9:96350400-96354200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr9:96350400-96354800	Weak transcription	K562	blood
30	chr9:96350800-96354000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:96350800-96354000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr9:96350800-96355600	Enhancers	HepG2	liver
33	chr9:96351200-96353600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr9:96351200-96353800	Enhancers	Fetal Heart	heart
35	chr9:96351200-96355200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:96351200-96355200	Enhancers	Brain Anterior Caudate	brain
37	chr9:96351400-96355200	Enhancers	Brain Angular Gyrus	brain
38	chr9:96351400-96355600	Enhancers	Brain Cingulate Gyrus	brain
39	chr9:96351400-96357600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:96351400-96359600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr9:96351600-96353600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:96351600-96355200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr9:96351600-96355400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:96351600-96355400	Enhancers	Brain Substantia Nigra	brain
45	chr9:96351800-96354000	Weak transcription	Placenta	Placenta
46	chr9:96351800-96354000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr9:96351800-96354800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr9:96352000-96353800	Weak transcription	Fetal Brain Female	brain
49	chr9:96352200-96353600	Weak transcription	Esophagus	oesophagus
50	chr9:96352200-96354600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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