Variant report

Variant	rs11212248
Chromosome Location	chr11:107323546-107323547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:107321712..107323606-chr11:107324966..107327081,2	K562	blood:
2	chr11:107321712..107324920-chr11:107324966..107329578,5	K562	blood:
3	chr11:107317620..107320783-chr11:107322990..107325407,3	K562	blood:

Variant related genes	Relation type
ENSG00000152404	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10458952	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11212198	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11212208	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11212209	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11212210	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11212212	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11212213	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11212214	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11212215	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11212216	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11212218	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11212221	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11212222	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11212225	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11212226	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11212227	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11212228	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11212229	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11212230	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11212231	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11212232	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11212233	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11212234	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11212237	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11212239	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11212241	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11212243	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11212244	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11212245	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11212246	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12224202	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12225955	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12274630	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106918	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17106969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276271	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs474053	0.85[ASN][1000 genomes]
rs501919	0.85[ASN][1000 genomes]
rs524764	0.85[ASN][1000 genomes]
rs535629	0.85[ASN][1000 genomes]
rs546363	0.98[ASN][1000 genomes]
rs56196921	0.86[AFR][1000 genomes]
rs56380322	0.86[AFR][1000 genomes]
rs576672	0.98[ASN][1000 genomes]
rs58259794	0.86[AFR][1000 genomes]
rs59648476	0.86[AFR][1000 genomes]
rs59887231	0.86[AFR][1000 genomes]
rs603918	0.85[ASN][1000 genomes]
rs608352	0.82[ASN][1000 genomes]
rs612080	0.87[ASN][1000 genomes]
rs618078	0.98[ASN][1000 genomes]
rs629755	0.95[ASN][1000 genomes]
rs643392	0.98[ASN][1000 genomes]
rs645538	0.98[ASN][1000 genomes]
rs654272	0.98[ASN][1000 genomes]
rs658584	0.87[ASN][1000 genomes]
rs784150	0.98[ASN][1000 genomes]
rs7925025	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7945950	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949914	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898365	chr11:106944975-107430300	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv898366	chr11:106944975-107433835	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv898367	chr11:106944975-107443420	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv898369	chr11:106958304-107443420	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv898370	chr11:107027991-107430300	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv898372	chr11:107049968-107433835	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv898373	chr11:107124903-107433835	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv2756363	chr11:107189790-107376790	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv556376	chr11:107250851-107486598	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv898375	chr11:107299631-107365191	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv898376	chr11:107299631-107443420	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv898377	chr11:107316499-107354312	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107241600-107327800	Weak transcription	HSMMtube	muscle
2	chr11:107252600-107323800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:107255000-107327600	Weak transcription	Fetal Heart	heart
4	chr11:107256600-107327600	Weak transcription	NHDF-Ad	bronchial
5	chr11:107258800-107324200	Weak transcription	Small Intestine	intestine
6	chr11:107262200-107324000	Weak transcription	Pancreas	Pancrea
7	chr11:107269000-107324600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:107291400-107324000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:107292800-107327600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:107296400-107323600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:107296800-107325600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr11:107297200-107324400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:107298200-107327400	Weak transcription	A549	lung
14	chr11:107300400-107324200	Weak transcription	NHLF	lung
15	chr11:107300400-107326800	Weak transcription	Hela-S3	cervix
16	chr11:107301000-107326800	Weak transcription	HMEC	breast
17	chr11:107307800-107326800	Weak transcription	Fetal Brain Male	brain
18	chr11:107309200-107324000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:107310800-107323800	Weak transcription	Colonic Mucosa	Colon
20	chr11:107310800-107324000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:107311000-107323600	Weak transcription	HUVEC	blood vessel
22	chr11:107311000-107327400	Weak transcription	Psoas Muscle	Psoas
23	chr11:107311800-107323800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:107312000-107323600	Weak transcription	NH-A	brain
25	chr11:107312000-107324000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:107313000-107323800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:107313000-107323800	Weak transcription	Brain Angular Gyrus	brain
28	chr11:107313000-107327400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:107313200-107323600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:107313200-107324000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr11:107313200-107324200	Weak transcription	K562	blood
32	chr11:107313400-107323600	Weak transcription	Brain Germinal Matrix	brain
33	chr11:107313400-107323600	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:107313400-107327600	Weak transcription	Brain Substantia Nigra	brain
35	chr11:107313600-107323600	Weak transcription	Lung	lung
36	chr11:107315200-107324000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:107315400-107323800	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:107315400-107326800	Weak transcription	NHEK	skin
39	chr11:107315600-107323800	Weak transcription	Fetal Kidney	kidney
40	chr11:107315800-107324800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr11:107317000-107326800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr11:107317600-107324200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:107318400-107323600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:107318600-107323800	Weak transcription	HepG2	liver
45	chr11:107319000-107325800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:107319200-107326600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:107319600-107324200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:107319800-107326400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr11:107320000-107323600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:107320400-107326400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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