Variant report

Variant	rs11234512
Chromosome Location	chr11:85722898-85722899
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85721705..85724500-chr11:85725494..85727078,2	MCF-7	breast:
2	chr11:85722163..85724146-chr11:85731929..85734605,2	K562	blood:
3	chr11:85720851..85723422-chr11:85723803..85726700,2	K562	blood:

Variant related genes	Relation type
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10128700	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10501603	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10501605	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10501607	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10898431	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234441	1.00[ASN][1000 genomes]
rs11234489	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234492	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234496	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234502	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234513	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234517	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234522	1.00[ASN][1000 genomes]
rs11825378	1.00[ASN][1000 genomes]
rs11825912	1.00[ASN][1000 genomes]
rs11828161	1.00[ASN][1000 genomes]
rs12270433	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12278260	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12279581	1.00[ASN][1000 genomes]
rs12279956	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12281494	0.83[EUR][1000 genomes]
rs12281958	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282655	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12287170	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1596739	0.90[EUR][1000 genomes]
rs17148600	1.00[ASN][1000 genomes]
rs17744938	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17745105	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17745153	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17745236	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17745248	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17745273	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17817582	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17817588	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17817690	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17817859	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17817883	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17817919	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17817956	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2001241	0.88[EUR][1000 genomes]
rs2084077	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41381550	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943934	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4943936	0.84[AMR][1000 genomes]
rs4943937	0.83[EUR][1000 genomes]
rs4944550	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4944551	0.90[EUR][1000 genomes]
rs4944552	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944553	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4944554	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4944555	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4944556	0.83[EUR][1000 genomes]
rs55697624	0.93[EUR][1000 genomes]
rs55791429	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55815523	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56026701	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56187740	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56944537	1.00[ASN][1000 genomes]
rs57125313	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58515881	1.00[ASN][1000 genomes]
rs58937798	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59019168	1.00[ASN][1000 genomes]
rs59104711	1.00[ASN][1000 genomes]
rs60253048	1.00[ASN][1000 genomes]
rs60264644	1.00[ASN][1000 genomes]
rs60737637	1.00[ASN][1000 genomes]
rs61535933	1.00[ASN][1000 genomes]
rs72949419	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72949443	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72950443	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72950453	0.88[EUR][1000 genomes]
rs72950456	0.88[EUR][1000 genomes]
rs72951266	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72951268	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959177	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959197	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959906	0.83[EUR][1000 genomes]
rs72961110	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72961111	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72963077	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72963086	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72963092	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72965157	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72965166	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7943152	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
2	nsv1048818	chr11:85524635-85746473	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv541116	chr11:85524635-85746473	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
4	nsv1053808	chr11:85588919-85757693	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv468769	chr11:85683554-85757589	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv555641	chr11:85683554-85757589	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv898054	chr11:85683554-85772636	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv469975	chr11:85688209-85729372	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv468770	chr11:85688209-85751883	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv555642	chr11:85688209-85751883	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv468771	chr11:85688209-85757589	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv468773	chr11:85688209-85757589	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv555643	chr11:85688209-85757589	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv468774	chr11:85688209-85775059	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv555644	chr11:85688209-85775059	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85659400-85745800	Weak transcription	Stomach Mucosa	stomach
2	chr11:85663800-85740200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:85664400-85726800	Strong transcription	Liver	Liver
4	chr11:85664400-85729000	Strong transcription	Placenta	Placenta
5	chr11:85664600-85730800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:85664800-85733000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:85665200-85742600	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:85665200-85743000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:85666000-85735800	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr11:85675000-85742600	Strong transcription	Primary B cells from peripheral blood	blood
11	chr11:85680600-85731600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:85680800-85725600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:85681000-85725800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:85681000-85729400	Strong transcription	NH-A	brain
15	chr11:85695200-85725200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:85695200-85725200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:85696600-85729000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:85697400-85733400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr11:85697800-85726400	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:85697800-85742600	Strong transcription	HUVEC	blood vessel
21	chr11:85699600-85727400	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr11:85700400-85729400	Strong transcription	Osteobl	bone
23	chr11:85700600-85731600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:85700600-85742400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:85701000-85745000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:85702000-85732000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr11:85702000-85732000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr11:85702600-85725600	Strong transcription	Duodenum Mucosa	Duodenum
29	chr11:85702600-85727800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:85702800-85729200	Strong transcription	Fetal Thymus	thymus
31	chr11:85703000-85723000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:85703200-85742800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:85703400-85724200	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:85707800-85728400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:85710200-85728000	Strong transcription	NHLF	lung
36	chr11:85712400-85725000	Strong transcription	Adipose Nuclei	Adipose
37	chr11:85712600-85736200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:85712800-85724600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:85712800-85730800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:85712800-85735800	Weak transcription	Esophagus	oesophagus
41	chr11:85712800-85740800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:85712800-85741600	Weak transcription	Aorta	Aorta
43	chr11:85712800-85743400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:85713000-85734600	Weak transcription	Fetal Brain Male	brain
45	chr11:85714000-85735600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:85714600-85734400	Weak transcription	Small Intestine	intestine
47	chr11:85715000-85731000	Weak transcription	Fetal Brain Female	brain
48	chr11:85715200-85729400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:85715400-85725600	Strong transcription	Fetal Lung	lung
50	chr11:85715400-85730400	Weak transcription	Placenta Amnion	Placenta Amnion

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