Variant report

Variant	rs12076924
Chromosome Location	chr1:120165826-120165827
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	chr1:120162586..120166440-chr1:120167182..120171199,5	K562	blood:
2	chr1:120161780..120163387-chr1:120165272..120166902,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1045827	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10754415	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10754416	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10802120	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10802123	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10802124	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10802126	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10923878	0.85[AMR][1000 genomes]
rs10923879	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12024934	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12064265	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12067843	0.94[ASN][1000 genomes]
rs12079724	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2281493	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3748711	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3795662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3795663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3850870	0.99[ASN][1000 genomes]
rs3862260	0.99[ASN][1000 genomes]
rs3862261	0.99[ASN][1000 genomes]
rs3862262	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4079793	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4659218	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4659219	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4659221	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs699775	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552885	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2757749	chr1:120016696-120214577	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv2758964	chr1:120016696-120214577	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv547621	chr1:120164303-120167887	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3428692	chr1:120164454-120167402	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv547622	chr1:120164966-120166681	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv1805156	chr1:120164994-120166681	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv547623	chr1:120164994-120166681	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv547624	chr1:120164994-120166877	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv1818761	chr1:120164994-120166934	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120152200-120167800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:120154400-120167400	Weak transcription	Brain Substantia Nigra	brain
3	chr1:120154800-120173600	Weak transcription	Brain Anterior Caudate	brain
4	chr1:120156800-120169800	Weak transcription	NHDF-Ad	bronchial
5	chr1:120156800-120173800	Weak transcription	Colonic Mucosa	Colon
6	chr1:120157400-120167800	Weak transcription	Fetal Kidney	kidney
7	chr1:120158400-120169800	Weak transcription	NH-A	brain
8	chr1:120159800-120166600	Weak transcription	K562	blood
9	chr1:120161000-120170200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:120161200-120168600	Strong transcription	Placenta	Placenta
11	chr1:120161400-120169200	Weak transcription	Psoas Muscle	Psoas
12	chr1:120161400-120169200	Weak transcription	Small Intestine	intestine
13	chr1:120161400-120169600	Weak transcription	HSMMtube	muscle
14	chr1:120161400-120169800	Weak transcription	Right Atrium	heart
15	chr1:120161600-120171600	Weak transcription	HSMM	muscle
16	chr1:120162200-120174400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:120162200-120174600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:120162600-120167600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:120163000-120167000	Strong transcription	HUVEC	blood vessel
20	chr1:120163600-120168600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:120163600-120188400	Weak transcription	Hela-S3	cervix
22	chr1:120163800-120168800	Strong transcription	Osteobl	bone
23	chr1:120164000-120167600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:120164000-120169400	Strong transcription	NHEK	skin
25	chr1:120164200-120166800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:120164200-120168600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:120164200-120168600	Strong transcription	Fetal Lung	lung
28	chr1:120164400-120167800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:120164400-120168800	Strong transcription	Fetal Intestine Small	intestine
30	chr1:120164400-120169400	Strong transcription	Fetal Stomach	stomach
31	chr1:120164400-120171000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:120164600-120166600	Weak transcription	Fetal Heart	heart
33	chr1:120164600-120167000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:120164600-120168600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:120164600-120169200	Strong transcription	Fetal Muscle Leg	muscle
36	chr1:120164800-120166400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:120164800-120166600	Strong transcription	NHLF	lung
38	chr1:120164800-120166800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:120164800-120167600	Weak transcription	HepG2	liver
40	chr1:120164800-120168400	Strong transcription	Ovary	ovary
41	chr1:120164800-120168400	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:120164800-120168800	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr1:120164800-120168800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:120164800-120169000	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:120164800-120169000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr1:120164800-120169400	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:120165000-120166000	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr1:120165000-120166800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:120165000-120166800	Strong transcription	Aorta	Aorta
50	chr1:120165000-120166800	Strong transcription	Skeletal Muscle Female	skeletal muscle

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