Variant report

Variant	rs10182764
Chromosome Location	chr2:112814651-112814652
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112653818..112657765-chr2:112811676..112815783,10	MCF-7	breast:
2	chr2:112640103..112643601-chr2:112810245..112815342,15	MCF-7	breast:
3	chr2:112643670..112645263-chr2:112814283..112816428,2	MCF-7	breast:
4	chr2:112813166..112815786-chr2:113032980..113035642,2	MCF-7	breast:
5	chr2:112813790..112815365-chr2:112920509..112922091,2	K562	blood:
6	chr2:112640328..112643621-chr2:112811494..112814946,7	K562	blood:

Variant related genes	Relation type
ENSG00000153107	Chromatin interaction
ENSG00000153208	Chromatin interaction
ENSG00000188177	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10165940	0.90[EUR][1000 genomes]
rs10168067	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10168915	1.00[ASN][1000 genomes]
rs10170258	1.00[ASN][1000 genomes]
rs10171359	1.00[ASN][1000 genomes]
rs10172310	1.00[ASN][1000 genomes]
rs10175344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179948	0.92[AFR][1000 genomes]
rs10180018	1.00[ASN][1000 genomes]
rs10180086	0.90[EUR][1000 genomes]
rs10182451	1.00[ASN][1000 genomes]
rs10182931	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183003	1.00[ASN][1000 genomes]
rs10185224	1.00[ASN][1000 genomes]
rs10190471	0.90[EUR][1000 genomes]
rs10197735	1.00[ASN][1000 genomes]
rs10198007	0.82[AFR][1000 genomes]
rs10201778	1.00[ASN][1000 genomes]
rs10204140	1.00[ASN][1000 genomes]
rs10204243	1.00[ASN][1000 genomes]
rs10204653	1.00[ASN][1000 genomes]
rs10205793	0.90[EUR][1000 genomes]
rs10206255	1.00[ASN][1000 genomes]
rs10211152	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12328678	1.00[ASN][1000 genomes]
rs13313775	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383743	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13387346	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13391959	1.00[ASN][1000 genomes]
rs13394094	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396030	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13397194	0.82[AFR][1000 genomes]
rs13401258	1.00[ASN][1000 genomes]
rs13401834	0.82[AFR][1000 genomes]
rs13402707	0.90[EUR][1000 genomes]
rs13411851	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412743	1.00[ASN][1000 genomes]
rs13416895	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs13417413	1.00[ASN][1000 genomes]
rs13418394	1.00[ASN][1000 genomes]
rs13421261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422534	1.00[ASN][1000 genomes]
rs13424713	1.00[ASN][1000 genomes]
rs13430221	0.82[AFR][1000 genomes]
rs13431260	1.00[ASN][1000 genomes]
rs2230517	0.90[EUR][1000 genomes]
rs56264210	0.82[AFR][1000 genomes]
rs56371451	1.00[ASN][1000 genomes]
rs6705046	1.00[ASN][1000 genomes]
rs6723289	0.90[EUR][1000 genomes]
rs6723394	0.90[EUR][1000 genomes]
rs67246870	1.00[ASN][1000 genomes]
rs6735717	0.90[EUR][1000 genomes]
rs72823495	0.82[AFR][1000 genomes]
rs72825696	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829620	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829658	1.00[ASN][1000 genomes]
rs72943913	1.00[ASN][1000 genomes]
rs9631022	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9631023	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1002027	chr2:112679182-112861534	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1003129	chr2:112691270-112816694	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv1793068	chr2:112784234-112816694	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112811400-112814800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:112811400-112814800	Active TSS	Fetal Muscle Trunk	muscle
3	chr2:112811400-112814800	Active TSS	HSMMtube	muscle
4	chr2:112811600-112814800	Active TSS	Fetal Kidney	kidney
5	chr2:112811800-112814800	Active TSS	NHLF	lung
6	chr2:112812800-112815200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:112813000-112814800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr2:112813000-112814800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:112813000-112814800	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr2:112813000-112815000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:112813400-112814800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr2:112813400-112814800	Active TSS	Right Atrium	heart
13	chr2:112813400-112815000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr2:112813800-112814800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:112813800-112814800	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr2:112813800-112814800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr2:112813800-112814800	Flanking Active TSS	Fetal Muscle Leg	muscle
18	chr2:112813800-112814800	Flanking Active TSS	HSMM	muscle
19	chr2:112813800-112814800	Flanking Active TSS	NHEK	skin
20	chr2:112813800-112815000	Weak transcription	Spleen	Spleen
21	chr2:112814000-112814800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:112814000-112814800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:112814000-112814800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:112814000-112814800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr2:112814000-112814800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr2:112814000-112814800	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr2:112814000-112814800	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr2:112814000-112814800	Flanking Active TSS	K562	blood
29	chr2:112814000-112815000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:112814000-112815000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:112814000-112815000	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr2:112814000-112815000	Flanking Active TSS	Hela-S3	cervix
33	chr2:112814000-112815200	Flanking Active TSS	HUVEC	blood vessel
34	chr2:112814000-112817400	Enhancers	Small Intestine	intestine
35	chr2:112814200-112814800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr2:112814200-112814800	Enhancers	Primary B cells from peripheral blood	blood
37	chr2:112814200-112814800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:112814200-112814800	Enhancers	Liver	Liver
39	chr2:112814200-112814800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr2:112814200-112814800	Flanking Active TSS	Fetal Intestine Large	intestine
41	chr2:112814200-112814800	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr2:112814200-112814800	Flanking Active TSS	Fetal Lung	lung
43	chr2:112814200-112814800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr2:112814200-112814800	Flanking Active TSS	A549	lung
45	chr2:112814200-112814800	Flanking Active TSS	HMEC	breast
46	chr2:112814200-112815000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:112814200-112815000	Enhancers	Primary B cells from cord blood	blood
48	chr2:112814200-112815000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr2:112814200-112815000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:112814200-112815000	Weak transcription	Lung	lung

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