Variant report

Variant	rs60476447
Chromosome Location	chr5:154140460-154140461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:154092276..154095550-chr5:154138420..154141730,4	MCF-7	breast:
2	chr5:154133382..154137150-chr5:154139305..154141648,5	MCF-7	breast:
3	chr5:154133224..154141155-chr5:154235246..154242227,24	MCF-7	breast:
4	chr5:154120475..154122431-chr5:154137952..154140710,2	K562	blood:

Variant related genes	Relation type
ENSG00000155508	Chromatin interaction
ENSG00000170271	Chromatin interaction
ENSG00000155506	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10042134	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1233077	0.88[ASN][1000 genomes]
rs13181649	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164192	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164193	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164194	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164196	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164198	0.81[EUR][1000 genomes]
rs164199	0.81[EUR][1000 genomes]
rs17116671	0.86[EUR][1000 genomes]
rs180903	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs184703	0.81[EUR][1000 genomes]
rs185323	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186998	0.81[EUR][1000 genomes]
rs189439	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059045	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112219	0.81[EUR][1000 genomes]
rs2112222	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544827	0.81[EUR][1000 genomes]
rs2544862	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544870	1.00[ASN][1000 genomes]
rs2544871	0.81[EUR][1000 genomes]
rs2544872	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544873	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544877	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544881	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544882	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544883	0.81[EUR][1000 genomes]
rs2544885	0.81[EUR][1000 genomes]
rs255530	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2560069	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2644745	1.00[ASN][1000 genomes]
rs2644748	0.81[EUR][1000 genomes]
rs2688183	1.00[ASN][1000 genomes]
rs2688185	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2688192	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2688202	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2688209	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32426	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346572	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346573	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348734	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348736	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348737	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348738	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348746	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348753	0.81[EUR][1000 genomes]
rs348755	0.81[EUR][1000 genomes]
rs348758	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3776982	1.00[ASN][1000 genomes]
rs39615	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs39953	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs40584	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958393	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958769	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958770	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958774	0.81[EUR][1000 genomes]
rs59025588	0.81[EUR][1000 genomes]
rs59919514	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60906140	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61511229	1.00[ASN][1000 genomes]
rs61554631	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6580117	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580118	1.00[ASN][1000 genomes]
rs6580119	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580121	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580124	0.85[EUR][1000 genomes]
rs6879093	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs702743	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276745	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276760	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73276766	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73276769	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73276780	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73278805	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73278819	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73278843	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280717	0.81[EUR][1000 genomes]
rs73280724	0.81[EUR][1000 genomes]
rs73280726	0.81[EUR][1000 genomes]
rs73280747	0.81[EUR][1000 genomes]
rs73280749	0.81[EUR][1000 genomes]
rs73280750	0.81[EUR][1000 genomes]
rs73280761	0.90[EUR][1000 genomes]
rs73280762	0.90[EUR][1000 genomes]
rs73280768	0.90[EUR][1000 genomes]
rs73280770	0.85[EUR][1000 genomes]
rs73280778	0.85[EUR][1000 genomes]
rs73280785	0.85[EUR][1000 genomes]
rs73280786	0.85[EUR][1000 genomes]
rs7703765	0.85[EUR][1000 genomes]
rs7719208	0.85[EUR][1000 genomes]
rs7720521	0.94[ASN][1000 genomes]
rs7720538	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723741	0.85[EUR][1000 genomes]
rs7724303	0.85[EUR][1000 genomes]
rs7724660	0.85[EUR][1000 genomes]
rs7727176	1.00[EUR][1000 genomes]
rs7733367	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816715	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816716	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs816733	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816736	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816737	1.00[ASN][1000 genomes]
rs816738	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs816739	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816740	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816742	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816744	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816745	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816746	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816748	1.00[ASN][1000 genomes]
rs863650	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021153	chr5:154099869-154147970	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154137200-154140800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:154137200-154142400	Enhancers	Primary B cells from peripheral blood	blood
3	chr5:154137400-154141200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:154137800-154140600	Transcr. at gene 5' and 3'	K562	blood
5	chr5:154137800-154141400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr5:154137800-154144000	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr5:154138000-154141000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr5:154138000-154141200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:154138000-154141400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:154138000-154142000	Enhancers	Primary B cells from cord blood	blood
11	chr5:154138000-154142200	Enhancers	Liver	Liver
12	chr5:154138000-154142400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:154138000-154142400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr5:154138000-154142600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr5:154138200-154140600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:154138200-154140600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr5:154138200-154140800	Weak transcription	Lung	lung
18	chr5:154138200-154141200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:154138200-154141400	Enhancers	Primary hematopoietic stem cells	blood
20	chr5:154138200-154142200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:154138200-154142400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:154138200-154142400	Enhancers	Brain Hippocampus Middle	brain
23	chr5:154138200-154146000	Weak transcription	Placenta	Placenta
24	chr5:154138200-154151400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr5:154138200-154156000	Enhancers	Primary T cells fromperipheralblood	blood
26	chr5:154138400-154141400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:154138400-154141400	Enhancers	A549	lung
28	chr5:154138400-154141600	Enhancers	Ovary	ovary
29	chr5:154138400-154142200	Enhancers	Rectal Smooth Muscle	rectum
30	chr5:154138400-154142400	Enhancers	Colon Smooth Muscle	Colon
31	chr5:154138400-154142400	Enhancers	Psoas Muscle	Psoas
32	chr5:154138400-154142600	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr5:154138400-154142600	Enhancers	Fetal Heart	heart
34	chr5:154138400-154147800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr5:154138600-154140600	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr5:154138800-154140600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:154138800-154140600	Weak transcription	Fetal Intestine Small	intestine
38	chr5:154138800-154140600	Weak transcription	Spleen	Spleen
39	chr5:154138800-154140800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:154138800-154140800	Weak transcription	Aorta	Aorta
41	chr5:154138800-154141400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr5:154138800-154141400	Enhancers	HUVEC	blood vessel
43	chr5:154138800-154141600	Enhancers	Duodenum Mucosa	Duodenum
44	chr5:154138800-154142400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr5:154138800-154142600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:154138800-154142600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:154138800-154150000	Weak transcription	HSMM	muscle
48	chr5:154139000-154141000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:154139000-154141200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:154139000-154141200	Enhancers	HMEC	breast

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