Variant report

Variant	rs72692783
Chromosome Location	chr1:151803664-151803665
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151225447..151227979-chr1:151803297..151804971,2	K562	blood:
2	chr1:151762059..151766604-chr1:151800169..151809078,15	MCF-7	breast:
3	chr1:151760926..151765128-chr1:151802888..151806720,6	MCF-7	breast:
4	chr1:151767476..151771496-chr1:151798617..151803699,6	MCF-7	breast:
5	chr1:151772358..151773986-chr1:151801710..151803954,2	MCF-7	breast:
6	chr1:151735081..151737738-chr1:151803314..151806226,2	MCF-7	breast:
7	chr1:151510723..151515515-chr1:151802413..151805096,5	MCF-7	breast:
8	chr1:151665244..151665843-chr1:151803006..151803905,2	MCF-7	breast:
9	chr1:151801687..151803757-chr3:196651344..196653748,2	MCF-7	breast:
10	chr1:151803084..151806304-chr1:151962981..151966430,4	MCF-7	breast:
11	chr1:151762442..151763132-chr1:151803278..151803837,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000232536	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000182134	Chromatin interaction
ENSG00000269489	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000203288	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11582525	0.91[EUR][1000 genomes]
rs12126984	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3811417	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811419	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4845602	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4845606	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72692781	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7540799	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516369	chr1:151780177-151820324	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1804657	chr1:151784152-151825756	Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1008033	chr1:151785029-151843154	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151797800-151803800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr1:151798400-151807000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr1:151798800-151804400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:151799000-151807800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr1:151799800-151803800	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr1:151799800-151804000	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr1:151800000-151804200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:151800000-151806400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:151800200-151804000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:151800400-151804800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:151800600-151803800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr1:151800600-151804400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:151800800-151803800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:151801200-151804000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:151801200-151804400	Enhancers	Dnd41	blood
16	chr1:151801200-151805000	Weak transcription	Brain Angular Gyrus	brain
17	chr1:151801200-151807400	Enhancers	Primary T cells from cord blood	blood
18	chr1:151801200-151808000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:151801600-151803800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:151801800-151803800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:151801800-151803800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr1:151801800-151805200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:151802000-151803800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:151802000-151803800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:151802000-151804000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr1:151802000-151805000	Weak transcription	Fetal Heart	heart
27	chr1:151802000-151809400	Enhancers	Fetal Thymus	thymus
28	chr1:151802200-151803800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:151802200-151804800	Weak transcription	Fetal Brain Female	brain
30	chr1:151802200-151805200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:151802200-151807000	Enhancers	Thymus	Thymus
32	chr1:151802400-151803800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr1:151802400-151803800	Enhancers	A549	lung
34	chr1:151802400-151804600	Weak transcription	Fetal Kidney	kidney
35	chr1:151802400-151805800	Flanking Active TSS	Hela-S3	cervix
36	chr1:151802400-151808000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr1:151802400-151810400	Weak transcription	Right Atrium	heart
38	chr1:151802600-151804800	Weak transcription	Brain Anterior Caudate	brain
39	chr1:151802600-151805000	Weak transcription	Brain Hippocampus Middle	brain
40	chr1:151802600-151805400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:151802800-151803800	Weak transcription	Brain Germinal Matrix	brain
42	chr1:151802800-151804000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:151802800-151804600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr1:151802800-151804600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr1:151802800-151804800	Weak transcription	Brain Substantia Nigra	brain
46	chr1:151802800-151804800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:151802800-151805000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:151802800-151811000	Enhancers	Placenta	Placenta
49	chr1:151803000-151803800	Enhancers	HMEC	breast
50	chr1:151803000-151804200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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