Variant report

Variant	rs72692781
Chromosome Location	chr1:151802639-151802640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMARCB1	chr1:151802630-151804426	Hela-S3	cervix:	n/a	n/a
2	HCFC1	chr1:151802407-151805731	Hela-S3	cervix:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151762059..151766604-chr1:151800169..151809078,15	MCF-7	breast:
2	chr1:151767476..151771496-chr1:151798617..151803699,6	MCF-7	breast:
3	chr1:151776821..151779307-chr1:151800357..151803039,2	MCF-7	breast:
4	chr1:151772358..151773986-chr1:151801710..151803954,2	MCF-7	breast:
5	chr1:151510723..151515515-chr1:151802413..151805096,5	MCF-7	breast:
6	chr1:151795588..151797929-chr1:151801830..151803659,3	MCF-7	breast:
7	chr1:151795791..151798042-chr1:151801058..151802708,2	K562	blood:
8	chr1:151798062..151799748-chr1:151801551..151803345,2	K562	blood:
9	chr1:151801687..151803757-chr3:196651344..196653748,2	MCF-7	breast:
10	chr1:151680409..151681994-chr1:151800376..151802986,2	K562	blood:

No data

Variant related genes	Relation type
RORC	TF binding region
ENSG00000232536	Chromatin interaction
ENSG00000213171	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000203288	Chromatin interaction
ENSG00000269489	Chromatin interaction
ENSG00000182134	Chromatin interaction
ENSG00000143365	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	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3811417	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3811418	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3811419	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4845602	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4845606	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72692783	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7540799	0.85[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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151796200-151803600	Enhancers	Fetal Muscle Trunk	muscle
2	chr1:151797000-151803600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:151797800-151803800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr1:151798400-151807000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr1:151798800-151804400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:151799000-151807800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr1:151799600-151803200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:151799800-151803200	Enhancers	Primary hematopoietic stem cells	blood
9	chr1:151799800-151803400	Enhancers	Fetal Muscle Leg	muscle
10	chr1:151799800-151803800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr1:151799800-151804000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr1:151800000-151803600	Enhancers	Spleen	Spleen
13	chr1:151800000-151804200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:151800000-151806400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:151800200-151803400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:151800200-151803600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:151800200-151804000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:151800400-151802800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:151800400-151803400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:151800400-151804800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:151800600-151802800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:151800600-151802800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:151800600-151803400	Enhancers	Lung	lung
24	chr1:151800600-151803800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr1:151800600-151804400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:151800800-151802800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr1:151800800-151802800	Enhancers	Brain Germinal Matrix	brain
28	chr1:151800800-151802800	Enhancers	Brain Substantia Nigra	brain
29	chr1:151800800-151803000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:151800800-151803400	Enhancers	Left Ventricle	heart
31	chr1:151800800-151803400	Enhancers	Stomach Mucosa	stomach
32	chr1:151800800-151803800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:151801000-151802800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:151801000-151802800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr1:151801000-151803000	Enhancers	Gastric	stomach
36	chr1:151801000-151803400	Enhancers	NHEK	skin
37	chr1:151801000-151803600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr1:151801000-151803600	Enhancers	Esophagus	oesophagus
39	chr1:151801200-151803400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:151801200-151804000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr1:151801200-151804400	Enhancers	Dnd41	blood
42	chr1:151801200-151805000	Weak transcription	Brain Angular Gyrus	brain
43	chr1:151801200-151807400	Enhancers	Primary T cells from cord blood	blood
44	chr1:151801200-151808000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:151801400-151803400	Enhancers	Primary T cells fromperipheralblood	blood
46	chr1:151801400-151803400	Enhancers	Fetal Lung	lung
47	chr1:151801600-151802800	Enhancers	Fetal Intestine Small	intestine
48	chr1:151801600-151803400	Enhancers	Psoas Muscle	Psoas
49	chr1:151801600-151803400	Enhancers	Right Ventricle	heart
50	chr1:151801600-151803800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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