Variant report

Variant	rs10186350
Chromosome Location	chr2:209137829-209137830
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:209130991..209132638-chr2:209137435..209139595,2	MCF-7	breast:
2	chr2:209130296..209134891-chr2:209135687..209138671,7	K562	blood:
3	chr2:209135135..209138547-chr2:209139841..209142667,3	MCF-7	breast:
4	chr2:209129679..209132156-chr2:209136326..209137867,2	K562	blood:
5	chr2:209133235..209135451-chr2:209137716..209139373,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115020	Chromatin interaction
ENSG00000228380	Chromatin interaction
ENSG00000138413	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10173938	0.98[EUR][1000 genomes]
rs10174541	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176626	0.95[EUR][1000 genomes]
rs10177810	0.84[EUR][1000 genomes]
rs10189031	0.93[EUR][1000 genomes]
rs10190458	0.82[EUR][1000 genomes]
rs10194539	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198535	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202116	1.00[ASN][1000 genomes]
rs10497897	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497898	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10932260	0.95[EUR][1000 genomes]
rs11538998	0.80[CEU][hapmap]
rs11554137	1.00[ASN][1000 genomes]
rs11685614	1.00[ASN][1000 genomes]
rs11885913	0.90[CEU][hapmap]
rs11895188	0.80[CEU][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11898653	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11901959	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185709	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs12475932	0.90[CEU][hapmap];0.96[EUR][1000 genomes]
rs12694104	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs12694110	0.85[YRI][hapmap]
rs12991283	0.95[YRI][hapmap]
rs13000248	0.94[YRI][hapmap]
rs13392540	0.88[EUR][1000 genomes]
rs13395304	0.95[EUR][1000 genomes]
rs13407268	0.84[EUR][1000 genomes]
rs13407897	0.86[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs13412043	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1584200	0.95[EUR][1000 genomes]
rs17700235	0.90[CEU][hapmap]
rs1866046	0.90[CEU][hapmap];0.85[AMR][1000 genomes]
rs1900239	0.95[EUR][1000 genomes]
rs2304545	0.82[EUR][1000 genomes]
rs2363465	0.98[EUR][1000 genomes]
rs2363466	0.98[EUR][1000 genomes]
rs28418905	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34218846	1.00[ASN][1000 genomes]
rs35293936	1.00[YRI][hapmap]
rs3928183	1.00[ASN][1000 genomes]
rs4673391	0.95[EUR][1000 genomes]
rs4673393	0.93[EUR][1000 genomes]
rs4673394	1.00[CEU][hapmap]
rs4673402	0.85[YRI][hapmap]
rs4675748	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs4675751	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs59522113	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59684347	1.00[ASN][1000 genomes]
rs6435435	1.00[ASN][1000 genomes]
rs66887797	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67171462	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67202912	1.00[ASN][1000 genomes]
rs6724208	0.95[EUR][1000 genomes]
rs6728530	0.80[YRI][hapmap]
rs6736599	0.95[EUR][1000 genomes]
rs67581965	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67669827	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67965883	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72976889	1.00[ASN][1000 genomes]
rs72989243	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73056463	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73070950	1.00[ASN][1000 genomes]
rs73070958	1.00[ASN][1000 genomes]
rs73070962	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7355562	0.86[EUR][1000 genomes]
rs7557303	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587752	0.95[EUR][1000 genomes]
rs7592472	0.82[EUR][1000 genomes]
rs9288392	0.95[EUR][1000 genomes]
rs9646838	1.00[ASN][1000 genomes]
rs999890	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs999891	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209131800-209143200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:209132200-209138200	Weak transcription	HSMMtube	muscle
3	chr2:209132200-209144800	Weak transcription	Aorta	Aorta
4	chr2:209132600-209138200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:209132800-209138200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:209132800-209138200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:209132800-209138200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:209132800-209138200	Weak transcription	NHLF	lung
9	chr2:209132800-209138600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:209132800-209138600	Weak transcription	Fetal Brain Male	brain
11	chr2:209132800-209140800	Weak transcription	Fetal Kidney	kidney
12	chr2:209132800-209141000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:209132800-209141200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:209132800-209142200	Weak transcription	Colonic Mucosa	Colon
15	chr2:209132800-209145000	Weak transcription	Gastric	stomach
16	chr2:209132800-209145600	Weak transcription	Stomach Mucosa	stomach
17	chr2:209132800-209147600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:209133000-209138800	Weak transcription	Hela-S3	cervix
19	chr2:209133000-209138800	Weak transcription	NHEK	skin
20	chr2:209133000-209141400	Weak transcription	Fetal Heart	heart
21	chr2:209133200-209138000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:209133200-209138000	Weak transcription	Fetal Brain Female	brain
23	chr2:209133200-209138000	Weak transcription	HMEC	breast
24	chr2:209133200-209138200	Weak transcription	Fetal Lung	lung
25	chr2:209133200-209140800	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:209133200-209141000	Weak transcription	Brain Substantia Nigra	brain
27	chr2:209133600-209138200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:209133600-209138400	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:209133600-209153400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:209133800-209138200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:209133800-209141400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:209134000-209142600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:209134200-209138000	Weak transcription	Fetal Stomach	stomach
34	chr2:209134200-209138200	Weak transcription	K562	blood
35	chr2:209134200-209140600	Weak transcription	Brain Angular Gyrus	brain
36	chr2:209134400-209138000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:209134400-209138000	Weak transcription	Pancreas	Pancrea
38	chr2:209134400-209138000	Weak transcription	HepG2	liver
39	chr2:209134400-209138200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:209134400-209138200	Weak transcription	Lung	lung
41	chr2:209134400-209138200	Weak transcription	Right Ventricle	heart
42	chr2:209134400-209138200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:209134400-209138800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:209134400-209138800	Weak transcription	Small Intestine	intestine
45	chr2:209134400-209143200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:209134400-209143200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:209134600-209138000	Weak transcription	Left Ventricle	heart
48	chr2:209134600-209138000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:209134600-209138000	Weak transcription	Thymus	Thymus
50	chr2:209134600-209138200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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