Variant report

Variant	rs9470719
Chromosome Location	chr6:37814489-37814490
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37786385..37788303-chr6:37812981..37815749,2	MCF-7	breast:
2	chr6:37782550..37785010-chr6:37814396..37816416,2	K562	blood:
3	chr6:37786774..37789051-chr6:37813566..37815493,2	K562	blood:
4	chr6:37814399..37816837-chr6:37819235..37822052,4	K562	blood:
5	chr6:37792689..37794670-chr6:37813133..37814800,2	MCF-7	breast:
6	chr6:37810546..37812453-chr6:37814091..37816177,3	K562	blood:
7	chr6:37814297..37817190-chr6:37817323..37820786,4	K562	blood:

Variant related genes	Relation type
ENSG00000225945	Chromatin interaction
ENSG00000156639	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10046397	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10080245	1.00[EUR][1000 genomes]
rs12178911	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56958593	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57527781	0.96[AFR][1000 genomes]
rs58305294	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58698408	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58860274	1.00[EUR][1000 genomes]
rs60997161	1.00[EUR][1000 genomes]
rs6904932	1.00[EUR][1000 genomes]
rs6906120	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6912045	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6924117	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6926669	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6930823	0.90[AMR][1000 genomes]
rs73730817	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73730818	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73730823	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73730827	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73730832	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73730849	1.00[EUR][1000 genomes]
rs73730859	1.00[EUR][1000 genomes]
rs7756841	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7765448	1.00[EUR][1000 genomes]
rs7769848	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9462362	1.00[EUR][1000 genomes]
rs9462367	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9462370	1.00[EUR][1000 genomes]
rs9462371	1.00[EUR][1000 genomes]
rs9462375	1.00[EUR][1000 genomes]
rs9470707	0.90[AMR][1000 genomes]
rs9470711	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9470715	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9470716	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9470717	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9470722	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9470729	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9470731	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9470733	1.00[EUR][1000 genomes]
rs9470736	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9470744	1.00[EUR][1000 genomes]
rs9470745	1.00[EUR][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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37791200-37820000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:37791400-37816000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr6:37794000-37819800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:37795000-37825600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:37796000-37815600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:37796000-37828800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:37796000-37830600	Weak transcription	Hela-S3	cervix
8	chr6:37798400-37815200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:37798400-37815800	Weak transcription	Fetal Heart	heart
10	chr6:37799400-37817400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:37799600-37825800	Weak transcription	Esophagus	oesophagus
12	chr6:37799800-37825400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:37800200-37830200	Weak transcription	Ovary	ovary
14	chr6:37800200-37836200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:37801000-37817600	Weak transcription	Spleen	Spleen
16	chr6:37801000-37818600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:37801200-37833400	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:37802400-37818400	Weak transcription	Primary B cells from cord blood	blood
19	chr6:37802600-37818400	Weak transcription	Fetal Lung	lung
20	chr6:37802600-37834400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr6:37803000-37823800	Weak transcription	Fetal Intestine Large	intestine
22	chr6:37806400-37816000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:37806800-37830800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:37807000-37815800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr6:37807000-37816000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:37808000-37839000	Weak transcription	Fetal Stomach	stomach
27	chr6:37808400-37817600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr6:37808400-37818000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr6:37808600-37817800	Weak transcription	Brain Hippocampus Middle	brain
30	chr6:37808600-37818200	Weak transcription	Brain Anterior Caudate	brain
31	chr6:37808600-37832600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr6:37809400-37823400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr6:37809600-37825400	Weak transcription	Aorta	Aorta
34	chr6:37810200-37817600	Weak transcription	Lung	lung
35	chr6:37810200-37817600	Weak transcription	Right Atrium	heart
36	chr6:37810200-37817600	Weak transcription	Right Ventricle	heart
37	chr6:37810800-37815000	Weak transcription	Left Ventricle	heart
38	chr6:37811000-37815200	Enhancers	Pancreas	Pancrea
39	chr6:37811000-37823600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:37811400-37815800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr6:37812000-37831400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr6:37812000-37832600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr6:37812200-37830200	Weak transcription	Thymus	Thymus
44	chr6:37812400-37830800	Weak transcription	Fetal Thymus	thymus
45	chr6:37812600-37836000	Weak transcription	Fetal Intestine Small	intestine
46	chr6:37812800-37816400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:37813000-37815800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr6:37813000-37818600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr6:37813600-37815200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr6:37813600-37815600	Weak transcription	Brain Angular Gyrus	brain

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