Variant report

Variant	rs3786305
Chromosome Location	chr18:11983565-11983566
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11951098..11953868-chr18:11983215..11985135,2	K562	blood:
2	chr18:11906925..11910950-chr18:11978930..11983753,7	MCF-7	breast:
3	chr18:11945202..11946852-chr18:11982600..11984410,2	K562	blood:
4	chr18:11979171..11983679-chr18:11993501..11995734,4	MCF-7	breast:
5	chr18:11977841..11980802-chr18:11983345..11984923,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266955	Chromatin interaction
ENSG00000154889	Chromatin interaction
ENSG00000273141	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1662602	0.82[ASN][1000 genomes]
rs16976875	0.88[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16976886	0.81[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2360082	0.93[CHD][hapmap];0.86[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28377581	0.81[ASN][1000 genomes]
rs3865368	1.00[ASW][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];1.00[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41491746	0.82[CHD][hapmap];0.80[ASN][1000 genomes]
rs4455029	0.82[CHB][hapmap];0.88[ASN][1000 genomes]
rs45442994	0.81[ASN][1000 genomes]
rs4797605	0.81[ASN][1000 genomes]
rs55638894	0.84[ASN][1000 genomes]
rs585247	0.81[ASN][1000 genomes]
rs73945297	0.88[ASN][1000 genomes]
rs971363	1.00[ASW][hapmap];0.88[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	nsv576495	chr18:11917410-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv909385	chr18:11938102-11986557	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
8	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv909387	chr18:11953187-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11980200-11984200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr18:11980800-11983800	Active TSS	Pancreas	Pancrea
3	chr18:11981800-11983800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr18:11982000-11983800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr18:11982200-11984400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr18:11982400-11983600	Weak transcription	Spleen	Spleen
7	chr18:11982400-11987600	Weak transcription	Fetal Heart	heart
8	chr18:11982400-11988400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr18:11982400-12005000	Weak transcription	Aorta	Aorta
10	chr18:11982600-11983600	Weak transcription	Right Ventricle	heart
11	chr18:11982600-11983800	Weak transcription	Lung	lung
12	chr18:11982600-11984000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr18:11982600-11984000	Active TSS	Stomach Smooth Muscle	stomach
14	chr18:11982600-11984200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr18:11982600-11984200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:11982600-11984200	Enhancers	Adipose Nuclei	Adipose
17	chr18:11982600-11984400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr18:11982600-11984400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr18:11982600-11984400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr18:11982600-11984400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr18:11982600-11984400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr18:11982600-11984400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr18:11982600-11984400	Enhancers	Fetal Muscle Leg	muscle
24	chr18:11982600-11984400	Enhancers	Gastric	stomach
25	chr18:11982600-11985600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr18:11982600-11985800	Weak transcription	Right Atrium	heart
27	chr18:11982600-11986800	Weak transcription	Brain Germinal Matrix	brain
28	chr18:11982600-11987400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr18:11982600-11987800	Weak transcription	NHLF	lung
30	chr18:11982600-11995600	Weak transcription	Primary T cells from cord blood	blood
31	chr18:11982600-11995800	Weak transcription	Thymus	Thymus
32	chr18:11982600-12028600	Weak transcription	Small Intestine	intestine
33	chr18:11982800-11983600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr18:11982800-11983800	Flanking Active TSS	Fetal Stomach	stomach
35	chr18:11982800-11984000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr18:11982800-11984200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr18:11982800-11984200	Flanking Active TSS	HepG2	liver
38	chr18:11982800-11984200	Flanking Active TSS	NHEK	skin
39	chr18:11982800-11984400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr18:11982800-11984600	Flanking Active TSS	Hela-S3	cervix
41	chr18:11983000-11983600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr18:11983000-11983600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr18:11983000-11983800	Enhancers	Primary B cells from cord blood	blood
44	chr18:11983000-11983800	Enhancers	Fetal Intestine Small	intestine
45	chr18:11983000-11984000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr18:11983000-11984000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr18:11983000-11984600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr18:11983200-11983600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr18:11983200-11983600	Active TSS	Left Ventricle	heart
50	chr18:11983200-11983800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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