Variant report

Variant	rs56378191
Chromosome Location	chr3:160946880-160946881
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: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	chr3:160943414..160948630-chr3:161124537..161130455,7	MCF-7	breast:
2	chr3:160946879..160949966-chr3:160954948..160957521,4	MCF-7	breast:
3	chr3:160945707..160948302-chr3:160963989..160965860,2	K562	blood:
4	chr3:160946584..160950136-chr3:160968989..160972696,3	MCF-7	breast:
5	chr3:160943734..160947750-chr3:160947797..160950520,6	MCF-7	breast:
6	chr3:160934982..160947568-chr3:161079696..161093037,40	MCF-7	breast:
7	chr3:160936365..160960187-chr3:161078472..161094658,51	MCF-7	breast:
8	chr3:160938830..160941162-chr3:160945990..160947653,3	K562	blood:
9	chr3:160944645..160947567-chr3:161062300..161064124,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169251	Chromatin interaction
ENSG00000196542	Chromatin interaction
ENSG00000271052	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12631095	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12631808	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12632351	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12632514	1.00[EUR][1000 genomes]
rs12632632	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12632686	1.00[EUR][1000 genomes]
rs12634108	1.00[EUR][1000 genomes]
rs12634781	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12635895	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12636473	1.00[EUR][1000 genomes]
rs12639236	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34868645	1.00[EUR][1000 genomes]
rs55914832	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56230831	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57175632	1.00[EUR][1000 genomes]
rs57212203	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57649180	1.00[EUR][1000 genomes]
rs58013864	1.00[EUR][1000 genomes]
rs58404146	1.00[EUR][1000 genomes]
rs58550445	1.00[EUR][1000 genomes]
rs60172527	1.00[EUR][1000 genomes]
rs61560039	1.00[EUR][1000 genomes]
rs61631170	1.00[EUR][1000 genomes]
rs61693724	1.00[EUR][1000 genomes]
rs6773475	1.00[EUR][1000 genomes]
rs6774622	1.00[EUR][1000 genomes]
rs72494862	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72494864	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73021435	1.00[EUR][1000 genomes]
rs73875444	1.00[EUR][1000 genomes]
rs73875481	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73875497	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73878306	1.00[EUR][1000 genomes]
rs73878333	1.00[EUR][1000 genomes]
rs73878336	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931072	chr3:160669567-161159779	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1015063	chr3:160918307-161024070	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160939800-160995800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:160940000-160971600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:160940000-160977400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:160940200-160965400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:160940800-160956000	Weak transcription	Colonic Mucosa	Colon
6	chr3:160941000-160956000	Weak transcription	Esophagus	oesophagus
7	chr3:160941000-160969600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:160941000-160970200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:160941000-160974800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:160941000-160983000	Weak transcription	Spleen	Spleen
11	chr3:160941000-160984600	Weak transcription	Small Intestine	intestine
12	chr3:160941000-160993400	Weak transcription	Pancreas	Pancrea
13	chr3:160941200-160968600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:160941200-160969800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:160941200-160973400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:160941400-160971800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:160941600-160969800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:160941600-160975400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:160941800-160947200	Weak transcription	Fetal Brain Female	brain
20	chr3:160941800-160948000	Weak transcription	Brain Germinal Matrix	brain
21	chr3:160941800-160948200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:160941800-160948600	Weak transcription	Fetal Kidney	kidney
23	chr3:160941800-160949000	Weak transcription	Fetal Heart	heart
24	chr3:160941800-160951200	Weak transcription	Brain Anterior Caudate	brain
25	chr3:160941800-160956000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr3:160941800-160975200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr3:160942000-160948200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:160942000-160950200	Strong transcription	Fetal Muscle Leg	muscle
29	chr3:160942000-160954400	Strong transcription	Placenta	Placenta
30	chr3:160942000-160964000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:160942200-160947800	Strong transcription	NHEK	skin
32	chr3:160942200-160951200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:160942200-160973200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr3:160942400-160948800	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr3:160942400-160975200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr3:160942600-160947600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:160942600-160948600	Weak transcription	Right Atrium	heart
38	chr3:160942600-160953800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr3:160942600-160965400	Weak transcription	Gastric	stomach
40	chr3:160942600-160971800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:160942600-160972600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr3:160942600-160973400	Strong transcription	Fetal Thymus	thymus
43	chr3:160942600-160975000	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr3:160942600-160976600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:160942800-160947000	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr3:160942800-160948800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr3:160942800-160949200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr3:160942800-160950200	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr3:160942800-160953200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr3:160942800-160953800	Strong transcription	Primary hematopoietic stem cells	blood

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