Variant report

Variant	rs60971947
Chromosome Location	chr3:119353317-119353318
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119348305..119350713-chr3:119351647..119354186,2	MCF-7	breast:
2	chr3:119297207..119300144-chr3:119352679..119354693,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144843	Chromatin interaction
ENSG00000272967	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10511395	1.00[ASN][1000 genomes]
rs1054191	1.00[ASN][1000 genomes]
rs11918155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11925762	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11928653	1.00[ASN][1000 genomes]
rs11929668	1.00[ASN][1000 genomes]
rs16830076	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16830097	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17203235	0.81[AFR][1000 genomes]
rs2461818	1.00[ASN][1000 genomes]
rs56822345	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57450016	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61733986	1.00[ASN][1000 genomes]
rs62264684	1.00[ASN][1000 genomes]
rs6438549	1.00[ASN][1000 genomes]
rs66588775	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66802265	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66858682	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6770095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175814	1.00[ASN][1000 genomes]
rs73175826	1.00[ASN][1000 genomes]
rs73192016	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192035	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192043	1.00[ASN][1000 genomes]
rs7638068	1.00[ASN][1000 genomes]
rs7638261	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1831824	chr3:119263607-119402474	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv1795621	chr3:119344693-119353995	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1795670	chr3:119347400-119353995	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv1797032	chr3:119347400-119353995	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv1800265	chr3:119347400-119353995	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv591364	chr3:119348130-119353995	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv3463490	chr3:119350258-119354322	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv1800054	chr3:119350324-119353995	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv1796433	chr3:119350324-119360506	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv3463488	chr3:119350399-119354207	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	esv3463489	chr3:119350426-119354204	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	esv3463487	chr3:119350575-119354102	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	esv3463491	chr3:119350589-119354101	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	esv10953	chr3:119350642-119354120	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	nsv591366	chr3:119351398-119353663	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv591367	chr3:119351398-119353841	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv591368	chr3:119351398-119353844	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	nsv591369	chr3:119351398-119353893	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	esv1793693	chr3:119351398-119353938	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	esv1793773	chr3:119351398-119353938	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
24	esv2421854	chr3:119351398-119353938	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
25	nsv441837	chr3:119351398-119353938	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
26	esv1792005	chr3:119351398-119353995	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
27	esv1792106	chr3:119351398-119353995	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
28	esv1792202	chr3:119351398-119353995	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
29	esv1792847	chr3:119351398-119353995	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
30	esv1794361	chr3:119351398-119353995	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
31	esv1794621	chr3:119351398-119353995	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
32	esv1795544	chr3:119351398-119353995	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
33	esv1795620	chr3:119351398-119353995	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
34	esv1796593	chr3:119351398-119353995	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
35	esv1796821	chr3:119351398-119353995	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
36	esv1797998	chr3:119351398-119353995	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
37	esv1798307	chr3:119351398-119353995	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
38	esv1802188	chr3:119351398-119353995	Weak transcription Flanking Active TSS Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
39	esv1802267	chr3:119351398-119353995	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
40	esv1802812	chr3:119351398-119353995	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
41	esv1803980	chr3:119351398-119353995	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
42	nsv591370	chr3:119351398-119353995	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
43	nsv591371	chr3:119351398-119354433	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
44	esv1804126	chr3:119351398-119360506	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
45	nsv591372	chr3:119351650-119353841	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
46	nsv591373	chr3:119351650-119353995	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
47	nsv591374	chr3:119351650-119354433	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
48	nsv591376	chr3:119351915-119353995	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
49	esv1830604	chr3:119352018-119353602	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
50	nsv591377	chr3:119352018-119353844	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119340800-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:119341400-119364600	Weak transcription	Liver	Liver
3	chr3:119345200-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:119345800-119355200	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:119347800-119356400	Weak transcription	Fetal Thymus	thymus
6	chr3:119349400-119357600	Weak transcription	Fetal Intestine Small	intestine
7	chr3:119349600-119354400	Weak transcription	Fetal Stomach	stomach
8	chr3:119349600-119355000	Weak transcription	Spleen	Spleen
9	chr3:119349600-119357000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:119349800-119353800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr3:119349800-119354400	Weak transcription	Right Atrium	heart
12	chr3:119349800-119355000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr3:119349800-119356400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:119349800-119356400	Weak transcription	Fetal Muscle Leg	muscle
15	chr3:119349800-119357000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:119349800-119378800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:119350000-119354400	Weak transcription	Lung	lung
18	chr3:119350000-119354600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:119350000-119354600	Weak transcription	GM12878-XiMat	blood
20	chr3:119350000-119354600	Weak transcription	HUVEC	blood vessel
21	chr3:119350000-119354800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:119350000-119354800	Weak transcription	NHDF-Ad	bronchial
23	chr3:119350000-119355000	Weak transcription	NH-A	brain
24	chr3:119350000-119355000	Weak transcription	NHLF	lung
25	chr3:119350000-119355200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:119350400-119354800	Weak transcription	HSMM	muscle
27	chr3:119350400-119355000	Weak transcription	HSMMtube	muscle
28	chr3:119350600-119354800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:119350600-119355000	Weak transcription	Osteobl	bone
30	chr3:119350800-119354000	Weak transcription	Placenta	Placenta
31	chr3:119351000-119354800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:119351000-119355000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:119351000-119355000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr3:119351200-119354800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:119351400-119354600	Weak transcription	Pancreas	Pancrea
36	chr3:119351400-119354600	Weak transcription	Psoas Muscle	Psoas
37	chr3:119351400-119354800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:119351400-119355000	Weak transcription	K562	blood
39	chr3:119351400-119355400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr3:119351600-119354400	Weak transcription	Adipose Nuclei	Adipose
41	chr3:119351600-119355200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr3:119351800-119354000	Weak transcription	Fetal Heart	heart
43	chr3:119351800-119356400	Weak transcription	Colon Smooth Muscle	Colon
44	chr3:119352000-119354000	Weak transcription	Left Ventricle	heart
45	chr3:119352000-119354400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr3:119352000-119354600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr3:119352000-119355000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr3:119352000-119355000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr3:119352000-119357400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:119352000-119378600	Weak transcription	Thymus	Thymus

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