Variant report

Variant	rs2284139
Chromosome Location	chr18:9824783-9824784
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9824373..9826062-chr18:9914642..9916254,2	MCF-7	breast:
2	chr18:9816447..9818510-chr18:9822454..9825221,3	K562	blood:
3	chr18:9805004..9807310-chr18:9824061..9827031,2	K562	blood:
4	chr18:9818694..9820482-chr18:9824195..9825783,2	K562	blood:
5	chr18:9823990..9825953-chr18:9922807..9924603,2	K562	blood:
6	chr18:9823749..9827014-chr18:9916286..9918554,3	K562	blood:
7	chr18:9820751..9822871-chr18:9824250..9826573,2	K562	blood:

Variant related genes	Relation type
ENSG00000101558	Chromatin interaction
ENSG00000223138	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10460021	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1476847	1.00[CEU][hapmap]
rs16955693	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955694	1.00[CEU][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955697	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16955703	0.82[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2284141	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2284142	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2284143	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2284144	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2284145	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4485437	0.90[CEU][hapmap]
rs4798870	0.85[CEU][hapmap]
rs57521478	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59116962	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59718720	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60288961	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72477242	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8088113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8088423	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9961019	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv909366	chr18:9760942-9827368	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv833586	chr18:9783830-9971693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9807800-9832000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr18:9809000-9825000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr18:9809200-9824800	Weak transcription	Lung	lung
4	chr18:9809200-9825000	Weak transcription	Stomach Mucosa	stomach
5	chr18:9812400-9834600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr18:9812400-9834800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr18:9818000-9824800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr18:9818400-9825000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr18:9818800-9828000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr18:9819000-9825000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr18:9820200-9825400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr18:9821200-9824800	Weak transcription	HUVEC	blood vessel
13	chr18:9822600-9825000	Genic enhancers	Hela-S3	cervix
14	chr18:9822800-9824800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr18:9822800-9825400	Enhancers	Psoas Muscle	Psoas
16	chr18:9822800-9826200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr18:9823000-9825200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr18:9823000-9825800	Enhancers	Fetal Muscle Leg	muscle
19	chr18:9823000-9826200	Enhancers	Aorta	Aorta
20	chr18:9823000-9830600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr18:9823200-9824800	Enhancers	Fetal Brain Male	brain
22	chr18:9823200-9825000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr18:9823400-9824800	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr18:9823400-9826200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr18:9823800-9824800	Weak transcription	Primary B cells from cord blood	blood
26	chr18:9823800-9825000	Enhancers	A549	lung
27	chr18:9823800-9825200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr18:9823800-9825200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr18:9823800-9825400	Enhancers	Colon Smooth Muscle	Colon
30	chr18:9823800-9825400	Enhancers	Fetal Stomach	stomach
31	chr18:9823800-9825400	Enhancers	Small Intestine	intestine
32	chr18:9823800-9825800	Enhancers	Brain Hippocampus Middle	brain
33	chr18:9823800-9825800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr18:9823800-9826000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr18:9823800-9826000	Enhancers	Brain Anterior Caudate	brain
36	chr18:9823800-9826000	Enhancers	Brain Cingulate Gyrus	brain
37	chr18:9823800-9826000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr18:9823800-9826000	Enhancers	HSMM	muscle
39	chr18:9823800-9826200	Enhancers	Brain Substantia Nigra	brain
40	chr18:9823800-9826200	Enhancers	NHLF	lung
41	chr18:9823800-9826400	Enhancers	NH-A	brain
42	chr18:9823800-9826800	Enhancers	Primary hematopoietic stem cells	blood
43	chr18:9823800-9827400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr18:9823800-9827800	Enhancers	NHEK	skin
45	chr18:9823800-9828400	Enhancers	Rectal Smooth Muscle	rectum
46	chr18:9823800-9829200	Enhancers	Placenta	Placenta
47	chr18:9823800-9829400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr18:9823800-9829600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr18:9824000-9824800	Weak transcription	Left Ventricle	heart
50	chr18:9824000-9825200	Enhancers	Fetal Lung	lung

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