Variant report

Variant	rs57188163
Chromosome Location	chr1:185142152-185142153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185124896..185128464-chr1:185139300..185142346,3	MCF-7	breast:
2	chr1:185140925..185143798-chr1:185185580..185188162,2	K562	blood:
3	chr1:185141715..185143361-chr1:185145794..185148568,2	K562	blood:
4	chr1:185141715..185144712-chr1:185145189..185148552,4	K562	blood:

Variant related genes	Relation type
ENSG00000116668	Chromatin interaction
ENSG00000121486	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10218496	0.82[EUR][1000 genomes]
rs10453829	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10489579	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10489580	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10798000	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12024023	0.93[EUR][1000 genomes]
rs12028408	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12045671	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12096987	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12118722	0.82[EUR][1000 genomes]
rs12141722	0.96[EUR][1000 genomes]
rs12404187	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1415072	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1591585	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1969750	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2025227	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2050566	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2146328	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2383269	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3766717	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57731138	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6424972	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6424974	0.82[EUR][1000 genomes]
rs6660169	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6670117	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6673303	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6674490	0.84[ASN][1000 genomes]
rs6698109	0.98[EUR][1000 genomes]
rs6698122	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7512290	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7522617	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7533198	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7543962	0.98[EUR][1000 genomes]
rs7550586	0.82[EUR][1000 genomes]
rs7552662	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7556183	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs951428	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548396	chr1:185038104-185151378	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv521613	chr1:185071831-185171869	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185127200-185147000	Weak transcription	Spleen	Spleen
2	chr1:185127200-185169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:185127400-185144400	Weak transcription	Pancreas	Pancrea
4	chr1:185127400-185152200	Weak transcription	Aorta	Aorta
5	chr1:185127400-185153000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:185127400-185157400	Weak transcription	Small Intestine	intestine
7	chr1:185127400-185163400	Weak transcription	Esophagus	oesophagus
8	chr1:185127400-185192000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:185127600-185144400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:185127600-185144800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:185127600-185145200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:185127600-185145400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:185127600-185147400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:185127600-185170000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:185127600-185184600	Weak transcription	Psoas Muscle	Psoas
16	chr1:185127600-185218200	Weak transcription	Right Ventricle	heart
17	chr1:185127800-185147000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:185128000-185166400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:185128200-185147200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:185128200-185153800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:185128200-185161200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:185128400-185145400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:185128400-185155200	Weak transcription	NHDF-Ad	bronchial
24	chr1:185128400-185193800	Weak transcription	Brain Angular Gyrus	brain
25	chr1:185128400-185201800	Weak transcription	Gastric	stomach
26	chr1:185128600-185168200	Weak transcription	Fetal Heart	heart
27	chr1:185128600-185171400	Weak transcription	Fetal Brain Male	brain
28	chr1:185131600-185173000	Weak transcription	Brain Substantia Nigra	brain
29	chr1:185132000-185155800	Weak transcription	HSMMtube	muscle
30	chr1:185134000-185170600	Weak transcription	Lung	lung
31	chr1:185134600-185193200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:185134800-185159800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:185135000-185162800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:185135800-185147200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:185136400-185142600	Weak transcription	Fetal Stomach	stomach
36	chr1:185136600-185167200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:185136800-185171200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:185137000-185143400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:185137200-185143200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:185137200-185147800	Weak transcription	Primary T cells from cord blood	blood
41	chr1:185137200-185166800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:185137200-185177200	Weak transcription	Primary B cells from cord blood	blood
43	chr1:185137200-185191400	Weak transcription	Brain Anterior Caudate	brain
44	chr1:185137400-185144400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:185137400-185147200	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:185137400-185152200	Weak transcription	Ovary	ovary
47	chr1:185137400-185154600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:185137400-185160000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:185137400-185160200	Weak transcription	Brain Germinal Matrix	brain
50	chr1:185137400-185168000	Weak transcription	Fetal Intestine Large	intestine

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