Variant report

Variant	rs12270493
Chromosome Location	chr11:67827660-67827661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67825936..67827673-chr11:67828877..67830557,2	K562	blood:
2	chr11:67820451..67823132-chr11:67825411..67828597,5	K562	blood:
3	chr11:67817715..67820693-chr11:67827048..67828955,3	K562	blood:
4	chr11:67824134..67827673-chr11:67827794..67832531,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UNC93B1-5	chr11:67826217-67828536	NONHSAT022504

Variant related genes	Relation type
ENSG00000110719	Chromatin interaction
ENSG00000110721	Chromatin interaction
ENSG00000255031	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10791956	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10791957	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10896293	0.81[ASN][1000 genomes]
rs11228129	0.85[ASN][1000 genomes]
rs11228133	0.81[ASN][1000 genomes]
rs11535788	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11824199	0.81[ASN][1000 genomes]
rs2457179	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2457180	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2511437	0.84[ASN][1000 genomes]
rs2512608	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2512611	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2512612	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3819255	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3935460	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4073551	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4930227	0.85[ASN][1000 genomes]
rs4930557	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7104982	0.84[ASN][1000 genomes]
rs7123668	0.81[EUR][1000 genomes]
rs7928739	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7940217	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036101	chr11:67346813-67828351	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv541079	chr11:67346813-67828351	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
3	nsv427892	chr11:67451649-67926562	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	esv2757450	chr11:67472905-67891289	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
5	esv2759835	chr11:67472905-67891289	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
6	esv2758275	chr11:67524937-67859490	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
7	nsv469856	chr11:67639037-67859490	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
8	nsv482760	chr11:67639037-67859490	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
9	nsv897838	chr11:67757350-67833543	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
10	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
11	nsv897843	chr11:67765056-67833543	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
12	nsv897852	chr11:67795066-67833543	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
13	nsv897855	chr11:67805563-67842369	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67808400-67841000	Weak transcription	HMEC	breast
2	chr11:67808600-67828200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:67808600-67832200	Weak transcription	Right Atrium	heart
4	chr11:67808800-67842600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:67809400-67834800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr11:67810800-67828200	Weak transcription	Primary B cells from cord blood	blood
7	chr11:67811200-67841600	Strong transcription	Fetal Intestine Small	intestine
8	chr11:67812200-67875400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:67812800-67828200	Weak transcription	K562	blood
10	chr11:67814400-67828400	Weak transcription	HSMMtube	muscle
11	chr11:67815000-67851400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:67816600-67832200	Weak transcription	Stomach Mucosa	stomach
13	chr11:67817600-67837600	Weak transcription	NH-A	brain
14	chr11:67817800-67832200	Weak transcription	HUVEC	blood vessel
15	chr11:67818000-67829000	Weak transcription	Psoas Muscle	Psoas
16	chr11:67818400-67829600	Weak transcription	Aorta	Aorta
17	chr11:67818800-67837200	Weak transcription	NHEK	skin
18	chr11:67819000-67834200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:67819400-67842200	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:67819600-67835400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:67819600-67846200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:67819800-67850600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:67820000-67829000	Weak transcription	Small Intestine	intestine
24	chr11:67820000-67850800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr11:67820200-67828200	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:67820200-67828400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr11:67820200-67828600	Weak transcription	Ovary	ovary
28	chr11:67820200-67841000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:67820400-67830600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:67820600-67836200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr11:67820600-67836600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:67820800-67837800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr11:67821000-67828000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr11:67821000-67828800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:67821000-67829000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:67821000-67829000	Weak transcription	Esophagus	oesophagus
37	chr11:67821200-67828200	Weak transcription	Osteobl	bone
38	chr11:67821200-67829000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr11:67821200-67845400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:67821400-67829000	Weak transcription	Right Ventricle	heart
41	chr11:67821400-67829800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr11:67821600-67828200	Weak transcription	Fetal Brain Female	brain
43	chr11:67821600-67828400	Weak transcription	Fetal Thymus	thymus
44	chr11:67821600-67828400	Weak transcription	NHLF	lung
45	chr11:67821600-67828800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:67821600-67829000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:67821800-67828800	Weak transcription	Pancreas	Pancrea
48	chr11:67821800-67828800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:67821800-67829000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:67821800-67829000	Weak transcription	Thymus	Thymus

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