Variant report

Variant	rs1845974
Chromosome Location	chr4:143114003-143114004
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:143110474..143112646-chr4:143112812..143114459,2	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10002140	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10010617	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10013734	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10013826	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10020099	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10026164	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10027089	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519633	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390992	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1390993	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497142	1.00[ASN][1000 genomes]
rs1497143	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497144	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17015594	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17015598	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17654944	0.94[ASN][1000 genomes]
rs1907110	0.94[ASN][1000 genomes]
rs1907123	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907131	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907132	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907133	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907136	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2055211	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2322543	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627803	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2627805	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2627821	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627825	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627826	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627828	0.94[ASN][1000 genomes]
rs2627829	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2627830	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627831	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636661	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636664	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636665	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636687	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636689	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636690	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645824	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28602561	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102442	0.83[ASN][1000 genomes]
rs3104278	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3104279	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775674	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4501295	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4574489	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4956318	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4956436	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4956437	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56044460	0.83[ASN][1000 genomes]
rs66588504	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66625631	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67288745	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67935763	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68037727	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6816247	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718498	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720404	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720416	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720418	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722457	0.94[ASN][1000 genomes]
rs72722463	0.94[ASN][1000 genomes]
rs7695458	1.00[ASN][1000 genomes]
rs7699731	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308148	0.83[EUR][1000 genomes];1.00[ASN][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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830097	chr4:142949705-143136372	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830098	chr4:143050143-143234384	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv595604	chr4:143077401-143228914	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143049800-143114400	Weak transcription	Right Ventricle	heart
2	chr4:143057800-143114400	Weak transcription	Aorta	Aorta
3	chr4:143058000-143181000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:143070400-143134400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:143071000-143117800	Weak transcription	Psoas Muscle	Psoas
6	chr4:143072000-143137000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:143081000-143128200	Weak transcription	NHDF-Ad	bronchial
8	chr4:143082000-143130000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:143082400-143134800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:143082800-143115800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr4:143089400-143118000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr4:143090000-143117400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:143092400-143116200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:143092400-143131000	Weak transcription	Fetal Intestine Large	intestine
15	chr4:143095000-143115400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:143095000-143128000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:143095000-143128200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr4:143095000-143154200	Weak transcription	Left Ventricle	heart
19	chr4:143097800-143114600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:143098600-143116600	Weak transcription	Fetal Intestine Small	intestine
21	chr4:143102400-143125600	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:143102400-143128000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:143103800-143116000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:143104800-143115600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr4:143109800-143118000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr4:143110200-143115000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr4:143110200-143118000	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr4:143110200-143119200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:143110400-143114400	Strong transcription	Dnd41	blood
30	chr4:143111400-143115000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:143112000-143114400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:143112000-143114600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:143112000-143116200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:143112200-143114400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:143112200-143114400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:143112200-143114600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr4:143112200-143114600	Strong transcription	HSMMtube	muscle
38	chr4:143112400-143114200	Genic enhancers	Muscle Satellite Cultured Cells	--
39	chr4:143112400-143114400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:143112400-143114600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr4:143112400-143115200	Strong transcription	HSMM	muscle
42	chr4:143112600-143114200	Enhancers	Osteobl	bone
43	chr4:143112600-143137600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:143113200-143117800	Strong transcription	HMEC	breast
45	chr4:143113400-143117600	Weak transcription	Small Intestine	intestine
46	chr4:143113600-143114600	Strong transcription	Primary T cells from cord blood	blood
47	chr4:143113600-143114800	Strong transcription	NHEK	skin
48	chr4:143113600-143115400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr4:143113800-143114400	Enhancers	Brain Germinal Matrix	brain
50	chr4:143113800-143114600	Strong transcription	Primary hematopoietic stem cells	blood

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