Variant report

Variant	rs2284144
Chromosome Location	chr18:9817091-9817092
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9814113..9818318-chr18:9827518..9830876,4	K562	blood:
2	chr18:9816447..9818510-chr18:9822454..9825221,3	K562	blood:
3	chr18:9816571..9819172-chr18:9874896..9876976,2	K562	blood:
4	chr18:9816186..9818041-chr18:9822656..9824440,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242651	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10460021	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16955693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955697	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16955703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284139	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2284141	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284142	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57521478	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59116962	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59718720	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60288961	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72477242	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8088113	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8088423	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
7	esv3372565	chr18:9813252-9818150	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3490316	chr18:9814052-9817250	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3377423	chr18:9814502-9817300	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3490312	chr18:9814602-9817100	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9807600-9824400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr18:9807800-9832000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr18:9809000-9825000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:9809200-9817200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr18:9809200-9820800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr18:9809200-9824400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr18:9809200-9824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:9809200-9824800	Weak transcription	Lung	lung
9	chr18:9809200-9825000	Weak transcription	Stomach Mucosa	stomach
10	chr18:9809400-9824400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr18:9809600-9824400	Weak transcription	HMEC	breast
12	chr18:9810000-9817600	Weak transcription	Right Ventricle	heart
13	chr18:9810000-9823000	Weak transcription	Aorta	Aorta
14	chr18:9810200-9818400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr18:9810200-9824000	Weak transcription	Ovary	ovary
16	chr18:9810600-9823800	Weak transcription	Fetal Stomach	stomach
17	chr18:9810800-9823800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr18:9810800-9823800	Weak transcription	Brain Hippocampus Middle	brain
19	chr18:9810800-9823800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr18:9811000-9823800	Weak transcription	Colon Smooth Muscle	Colon
21	chr18:9811200-9817800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr18:9811400-9817200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr18:9811400-9823800	Weak transcription	Brain Substantia Nigra	brain
24	chr18:9812200-9817400	Weak transcription	Psoas Muscle	Psoas
25	chr18:9812400-9817200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr18:9812400-9817600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr18:9812400-9834600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr18:9812400-9834800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr18:9813000-9817400	Weak transcription	Fetal Muscle Leg	muscle
30	chr18:9813000-9819600	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr18:9813000-9819800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr18:9814000-9818000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr18:9814600-9817800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr18:9814800-9823800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr18:9815000-9818400	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr18:9815000-9823800	Weak transcription	A549	lung
37	chr18:9815200-9817600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr18:9815200-9824000	Weak transcription	HSMMtube	muscle
39	chr18:9815200-9824400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr18:9815200-9824400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr18:9815400-9817200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr18:9815400-9820600	Weak transcription	HUVEC	blood vessel
43	chr18:9815400-9823800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr18:9815800-9817800	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr18:9815800-9818600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr18:9815800-9818600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr18:9816000-9817600	Strong transcription	Osteobl	bone
48	chr18:9816000-9818000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr18:9816000-9818200	Strong transcription	NHEK	skin
50	chr18:9816000-9818800	Strong transcription	HSMM	muscle

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