Variant report

Variant	rs3789361
Chromosome Location	chr1:180970570-180970571
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180969884..180971674-chr1:181062380..181065225,2	MCF-7	breast:
2	chr1:180970309..180972031-chr1:181057368..181059021,2	MCF-7	breast:
3	chr1:180969304..180971404-chr1:180988525..180991376,2	K562	blood:
4	chr1:180970142..180972155-chr1:180990545..180993018,2	MCF-7	breast:
5	chr1:180957764..180960109-chr1:180968971..180971786,3	K562	blood:
6	chr1:180970472..180977735-chr1:180989614..180993655,8	MCF-7	breast:
7	chr1:180966137..180967993-chr1:180968713..180970684,2	K562	blood:
8	chr1:180958399..180960109-chr1:180968971..180971786,2	K562	blood:
9	chr1:180969304..180970911-chr1:180988525..180990362,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135823	Chromatin interaction
ENSG00000162783	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10494536	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10797662	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10797663	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3827708	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6425659	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71516924	0.82[EUR][1000 genomes]
rs7528255	0.82[EUR][1000 genomes]
rs7546157	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7556005	0.82[EUR][1000 genomes]
rs883859	0.81[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	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking 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 target site	97 gene(s)	inside rSNPs	diseases
2	esv3342865	chr1:180933678-181018012	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv3383831	chr1:180937224-181029755	Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180933400-180974600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:180940400-180988400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:180943600-180972000	Weak transcription	Psoas Muscle	Psoas
4	chr1:180943600-180979800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:180944800-180970800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:180945400-180975000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:180945600-180974800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:180952200-180974800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:180956600-180973200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:180957600-180971000	Weak transcription	Fetal Brain Male	brain
11	chr1:180958000-180972000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:180958000-180972000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:180958000-180973600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:180959000-180975000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:180959200-180972800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:180959200-180990800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:180959400-180973200	Weak transcription	Aorta	Aorta
18	chr1:180959600-180971800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:180959600-180973000	Weak transcription	Small Intestine	intestine
20	chr1:180959800-180979800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:180960200-180972000	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:180960600-180972200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:180960600-180973400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:180960600-180985200	Weak transcription	Stomach Mucosa	stomach
25	chr1:180960800-180971000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:180960800-180971000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:180960800-180971800	Weak transcription	Right Ventricle	heart
28	chr1:180960800-180973200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:180960800-180979800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:180961000-180970600	Weak transcription	Fetal Stomach	stomach
31	chr1:180961000-180970800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:180961000-180971000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:180961000-180973000	Weak transcription	Spleen	Spleen
34	chr1:180961000-180973400	Weak transcription	Colonic Mucosa	Colon
35	chr1:180961400-180970600	Weak transcription	Lung	lung
36	chr1:180961400-180970800	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:180961400-180971000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:180961400-180979800	Weak transcription	NH-A	brain
39	chr1:180961600-180973000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr1:180962200-180970800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:180962400-180970600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:180962400-180970600	Weak transcription	Fetal Intestine Large	intestine
43	chr1:180962400-180970600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:180962400-180970600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:180962400-180970600	Weak transcription	Thymus	Thymus
46	chr1:180962400-180970800	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:180962400-180972000	Weak transcription	Placenta	Placenta
48	chr1:180962600-180970600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:180962600-180971400	Weak transcription	Fetal Kidney	kidney
50	chr1:180963000-180971600	Weak transcription	Brain Substantia Nigra	brain

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