Variant report

Variant	rs72741819
Chromosome Location	chr1:185136299-185136300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185135577..185140535-chr1:185283801..185287464,5	K562	blood:
2	chr1:185118825..185122081-chr1:185134391..185138048,3	K562	blood:
3	chr1:185134171..185136406-chr1:185138241..185141622,3	MCF-7	breast:
4	chr1:185135724..185140535-chr1:185281992..185285991,5	K562	blood:
5	chr1:185133181..185136561-chr1:185138198..185141782,4	K562	blood:

Variant related genes	Relation type
ENSG00000116679	Chromatin interaction
ENSG00000273004	Chromatin interaction
ENSG00000231084	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1046592	0.81[EUR][1000 genomes]
rs10489581	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10797997	0.91[AMR][1000 genomes]
rs10797998	0.88[EUR][1000 genomes]
rs10911676	0.81[EUR][1000 genomes]
rs10911682	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10911686	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12022419	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12023744	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12025995	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12026000	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12027607	0.91[AMR][1000 genomes]
rs12028809	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12030778	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12030967	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12031837	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12035073	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12035433	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12037466	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12037692	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12039541	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12040650	0.91[AMR][1000 genomes]
rs12041374	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12043427	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12043495	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12043561	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12043617	0.80[EUR][1000 genomes]
rs12044161	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12044997	0.85[EUR][1000 genomes]
rs12045772	0.85[EUR][1000 genomes]
rs12046095	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12046202	0.85[EUR][1000 genomes]
rs12046801	0.81[EUR][1000 genomes]
rs12064938	0.87[AMR][1000 genomes]
rs12086086	0.88[EUR][1000 genomes]
rs12094983	0.91[AMR][1000 genomes]
rs12401293	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12404644	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12408279	0.80[EUR][1000 genomes]
rs12408500	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12409926	0.80[EUR][1000 genomes]
rs1407554	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1544052	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs16865296	0.85[EUR][1000 genomes]
rs2273881	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs3766720	0.80[EUR][1000 genomes]
rs3806243	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41264588	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs41264590	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs56107433	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs61125463	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs61495015	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72724103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72724108	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72739677	0.91[AMR][1000 genomes]
rs72739679	0.83[AMR][1000 genomes]
rs72741807	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72741808	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72741816	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72741817	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

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	chr1:185127400-185136400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:185127400-185144400	Weak transcription	Pancreas	Pancrea
5	chr1:185127400-185152200	Weak transcription	Aorta	Aorta
6	chr1:185127400-185153000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:185127400-185157400	Weak transcription	Small Intestine	intestine
8	chr1:185127400-185163400	Weak transcription	Esophagus	oesophagus
9	chr1:185127400-185192000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:185127600-185136400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:185127600-185138400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:185127600-185138800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:185127600-185139200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:185127600-185139400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:185127600-185139400	Weak transcription	Fetal Kidney	kidney
16	chr1:185127600-185144400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:185127600-185144800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr1:185127600-185145200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:185127600-185145400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:185127600-185147400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:185127600-185170000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:185127600-185184600	Weak transcription	Psoas Muscle	Psoas
23	chr1:185127600-185218200	Weak transcription	Right Ventricle	heart
24	chr1:185127800-185136400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:185127800-185147000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:185128000-185136600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:185128000-185137000	Weak transcription	NH-A	brain
28	chr1:185128000-185166400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:185128200-185139400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr1:185128200-185139400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:185128200-185139400	Weak transcription	Dnd41	blood
32	chr1:185128200-185147200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:185128200-185153800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:185128200-185161200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:185128400-185136400	Weak transcription	Brain Anterior Caudate	brain
36	chr1:185128400-185136400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:185128400-185137000	Weak transcription	Stomach Mucosa	stomach
38	chr1:185128400-185139400	Weak transcription	Hela-S3	cervix
39	chr1:185128400-185139600	Weak transcription	NHLF	lung
40	chr1:185128400-185145400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:185128400-185155200	Weak transcription	NHDF-Ad	bronchial
42	chr1:185128400-185193800	Weak transcription	Brain Angular Gyrus	brain
43	chr1:185128400-185201800	Weak transcription	Gastric	stomach
44	chr1:185128600-185168200	Weak transcription	Fetal Heart	heart
45	chr1:185128600-185171400	Weak transcription	Fetal Brain Male	brain
46	chr1:185129200-185139200	Weak transcription	K562	blood
47	chr1:185129600-185138200	Weak transcription	HSMM	muscle
48	chr1:185130000-185137400	Strong transcription	Fetal Brain Female	brain
49	chr1:185130200-185137400	Strong transcription	Brain Germinal Matrix	brain
50	chr1:185130200-185138000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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