Variant report

Variant	rs2067482
Chromosome Location	chr11:46406767-46406768
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	chr11:46391433..46393341-chr11:46403120..46407243,3	MCF-7	breast:
2	chr11:46405206..46407245-chr11:46550618..46552285,2	K562	blood:

Variant related genes	Relation type
ENSG00000149091	Chromatin interaction
ENSG00000110497	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10160701	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10838602	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11038897	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11038900	0.96[EUR][1000 genomes]
rs11038906	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11038914	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11038919	0.95[EUR][1000 genomes]
rs11038927	0.94[EUR][1000 genomes]
rs11819869	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12272795	0.92[EUR][1000 genomes]
rs12283172	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12292425	0.92[EUR][1000 genomes]
rs12295266	0.93[EUR][1000 genomes]
rs12573978	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12574250	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12574668	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12575519	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12576115	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12576317	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12576359	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12577142	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12578042	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1472001	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1489192	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16938506	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17197116	0.84[AFR][1000 genomes]
rs2046768	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2171667	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2171668	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2279465	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2291487	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2864072	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2864076	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2902858	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34406563	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35324223	0.84[EUR][1000 genomes]
rs35623865	0.91[EUR][1000 genomes]
rs3740974	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3740977	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3802888	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3809047	0.81[ASN][1000 genomes]
rs4307676	0.87[EUR][1000 genomes]
rs55657382	0.91[EUR][1000 genomes]
rs55661562	0.91[EUR][1000 genomes]
rs55896955	0.80[EUR][1000 genomes]
rs57535407	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58147945	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59319338	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60722866	0.88[EUR][1000 genomes]
rs60932698	0.89[EUR][1000 genomes]
rs61882674	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61882678	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61882682	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61882683	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61882691	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882701	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882702	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61882706	0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs61882709	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882710	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882711	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882712	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882720	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882743	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882746	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882748	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882750	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882756	0.91[EUR][1000 genomes]
rs61882757	0.93[EUR][1000 genomes]
rs61882758	0.93[EUR][1000 genomes]
rs61884262	0.85[EUR][1000 genomes]
rs61884264	0.91[EUR][1000 genomes]
rs61884271	0.89[EUR][1000 genomes]
rs61884273	0.87[EUR][1000 genomes]
rs61884274	0.87[EUR][1000 genomes]
rs61884292	0.80[EUR][1000 genomes]
rs6485682	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6485685	0.91[EUR][1000 genomes]
rs7108770	0.89[EUR][1000 genomes]
rs7109698	0.81[EUR][1000 genomes]
rs7112229	0.98[EUR][1000 genomes]
rs7122039	0.92[EUR][1000 genomes]
rs7125907	0.92[EUR][1000 genomes]
rs7126316	0.86[EUR][1000 genomes]
rs7126343	0.87[EUR][1000 genomes]
rs7127529	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7128092	0.86[EUR][1000 genomes]
rs7130141	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73449983	0.93[EUR][1000 genomes]
rs7481312	0.94[EUR][1000 genomes]
rs7484002	0.91[EUR][1000 genomes]
rs7924401	0.92[EUR][1000 genomes]
rs7930103	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7932866	0.86[EUR][1000 genomes]
rs7936413	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7946705	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951579	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7951870	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs876701	0.91[EUR][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	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
6	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897318	chr11:46388220-46417815	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
8	nsv897319	chr11:46396479-46417815	Genic enhancers Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	nsv309	chr11:46399678-46440503	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv897320	chr11:46399901-46417815	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46404200-46407800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:46404200-46408600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:46404400-46410800	Weak transcription	Gastric	stomach
4	chr11:46404400-46410800	Weak transcription	Right Atrium	heart
5	chr11:46404600-46406800	Enhancers	Stomach Mucosa	stomach
6	chr11:46404600-46408000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:46404600-46408000	Weak transcription	NHLF	lung
8	chr11:46404800-46407400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:46404800-46407600	Weak transcription	Fetal Kidney	kidney
10	chr11:46404800-46408800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:46404800-46409000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr11:46405000-46407200	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:46405000-46409000	Weak transcription	Ovary	ovary
14	chr11:46405000-46409200	Weak transcription	HSMM	muscle
15	chr11:46405200-46407000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:46405200-46407400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:46405200-46407800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:46405200-46407800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:46405200-46408000	Weak transcription	NH-A	brain
20	chr11:46405200-46408200	Weak transcription	HepG2	liver
21	chr11:46405200-46409200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:46405400-46407400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:46405400-46407600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:46405400-46408200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:46405400-46409200	Weak transcription	Fetal Heart	heart
26	chr11:46405600-46408000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:46405600-46408000	ZNF genes & repeats	Spleen	Spleen
28	chr11:46405800-46406800	Strong transcription	Fetal Brain Female	brain
29	chr11:46405800-46407800	Weak transcription	Fetal Lung	lung
30	chr11:46405800-46408200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:46405800-46408400	Weak transcription	HMEC	breast
32	chr11:46405800-46408800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:46405800-46409200	Weak transcription	K562	blood
34	chr11:46406000-46408000	Weak transcription	Hela-S3	cervix
35	chr11:46406000-46408400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:46406200-46406800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr11:46406200-46406800	Weak transcription	Fetal Intestine Large	intestine
38	chr11:46406200-46406800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr11:46406200-46408000	Weak transcription	Brain Germinal Matrix	brain
40	chr11:46406400-46406800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:46406400-46407800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:46406600-46406800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
43	chr11:46406600-46407000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
44	chr11:46406600-46407000	Weak transcription	Fetal Muscle Leg	muscle
45	chr11:46406600-46408000	Weak transcription	Fetal Intestine Small	intestine
46	chr11:46406600-46409200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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