Variant report

Variant	rs648578
Chromosome Location	chr11:65274666-65274667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:113)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:113 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr11:65028607..65030246-chr11:65274062..65276389,2	MCF-7	breast:
2	chr11:65272084..65274811-chr11:65381560..65383280,2	K562	blood:
3	chr1:226186530..226187387-chr11:65274608..65275168,2	Hela-S3	cervix:
4	chr11:65271824..65276664-chr11:65336366..65343255,11	K562	blood:
5	chr11:65274257..65276714-chr11:65307459..65309638,2	K562	blood:
6	chr11:65270368..65274938-chr11:65339549..65344578,6	MCF-7	breast:
7	chr11:65274666..65277195-chr9:131445199..131447270,2	MCF-7	breast:
8	chr11:65274568..65276766-chr11:65336071..65338179,2	MCF-7	breast:
9	chr11:65274644..65275224-chr15:42565273..42566258,2	NB4	blood:
10	chr11:65274348..65275255-chr12:98986718..98987289,2	Hela-S3	cervix:
11	chr11:65273828..65276623-chr6:74229179..74231455,2	K562	blood:
12	chr11:65272025..65274909-chr6:27106084..27108449,2	K562	blood:
13	chr11:65274173..65277456-chr11:65317008..65321006,4	K562	blood:
14	chr11:65274626..65275258-chr18:44676516..44677214,2	Hela-S3	cervix:
15	chr1:149856900..149859190-chr11:65273866..65276403,2	MCF-7	breast:
16	chr11:65274019..65276461-chr11:65347786..65350609,2	MCF-7	breast:
17	chr11:65274213..65274813-chr6:31794151..31795048,2	Hela-S3	cervix:
18	chr11:65274341..65275303-chr5:95996277..95997185,2	Hela-S3	cervix:
19	chr11:65274326..65274858-chr2:109335453..109336310,2	Hela-S3	cervix:
20	chr10:33270064..33270775-chr11:65273734..65274731,2	Hela-S3	cervix:
21	chr11:65273920..65277219-chr11:65354093..65357225,5	K562	blood:
22	chr11:65274185..65275070-chr2:232571083..232571750,2	Hela-S3	cervix:
23	chr1:109234251..109234998-chr11:65273947..65274814,2	Hela-S3	cervix:
24	chr11:65273762..65276126-chr11:65383241..65385672,2	K562	blood:
25	chr11:65272681..65275218-chr11:65788622..65791561,3	K562	blood:
26	chr11:65272855..65274842-chr3:44472257..44473904,2	K562	blood:
27	chr11:65178877..65218546-chr11:65218612..65286191,1014	K562	blood:
28	chr1:149856717..149859289-chr11:65273291..65276048,2	K562	blood:
29	chr11:65272401..65274761-chr7:148959085..148961142,2	K562	blood:
30	chr11:65274070..65274698-chr12:57504756..57505534,2	Hela-S3	cervix:
31	chr11:65274189..65275096-chr15:59949397..59950117,2	Hela-S3	cervix:
32	chr11:65273031..65275757-chr11:65307459..65310969,3	K562	blood:
33	chr11:65274106..65274909-chr13:111367254..111367885,3	Hela-S3	cervix:
34	chr11:65274200..65276216-chr17:56707854..56710584,2	K562	blood:
35	chr11:65274107..65274684-chr3:57937479..57938078,2	Hela-S3	cervix:
36	chr11:65273468..65276593-chr11:65582844..65587199,4	K562	blood:
37	chr11:65274645..65276786-chr5:81572226..81575188,2	MCF-7	breast:
38	chr11:65162393..65165823-chr11:65272429..65277553,6	K562	blood:
39	chr11:65274457..65275197-chr8:27749244..27749977,2	Hela-S3	cervix:
40	chr11:65274185..65275080-chr8:128231883..128232857,2	Hela-S3	cervix:
41	chr10:27844538..27845058-chr11:65274083..65274875,3	Hela-S3	cervix:
42	chr11:65273762..65275642-chr18:786677..788394,2	K562	blood:
43	chr11:65273507..65275023-chr6:26121224..26123950,2	K562	blood:
44	chr11:65273358..65276135-chr6:139704790..139706371,2	K562	blood:
45	chr1:230207634..230208517-chr11:65274375..65275146,2	Hela-S3	cervix:
46	chr11:65274148..65274858-chr3:119813732..119814687,2	Hela-S3	cervix:
47	chr11:65274507..65275057-chr6:26271415..26272145,2	Hela-S3	cervix:
48	chr11:65273006..65275716-chr11:66137072..66138747,2	K562	blood:
49	chr11:65040759..65043462-chr11:65272919..65274800,4	K562	blood:
50	chr1:226593949..226595783-chr11:65273102..65275028,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000187514	Chromatin interaction
ENSG00000255478	Chromatin interaction
ENSG00000128016	Chromatin interaction
ENSG00000256018	Chromatin interaction
ENSG00000121057	Chromatin interaction
ENSG00000231119	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000143751	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000214013	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000039650	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000162241	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000269363	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000263004	Chromatin interaction
ENSG00000114779	Chromatin interaction
ENSG00000229980	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000119335	Chromatin interaction
ENSG00000242622	Chromatin interaction
ENSG00000173825	Chromatin interaction
ENSG00000142186	Chromatin interaction
ENSG00000229953	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000101940	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000166888	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000243477	Chromatin interaction
ENSG00000139734	Chromatin interaction
ENSG00000011304	Chromatin interaction
ENSG00000177410	Chromatin interaction
ENSG00000173465	Chromatin interaction
ENSG00000209042	Chromatin interaction
ENSG00000168056	Chromatin interaction
ENSG00000143799	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000204946	Chromatin interaction
ENSG00000176973	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000140307	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000260233	Chromatin interaction
ENSG00000153201	Chromatin interaction
ENSG00000134186	Chromatin interaction
ENSG00000065150	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000126391	Chromatin interaction
ENSG00000243989	Chromatin interaction
ENSG00000187742	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000103978	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000152348	Chromatin interaction
ENSG00000186792	Chromatin interaction
ENSG00000180198	Chromatin interaction
ENSG00000186468	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000167220	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11227226	0.82[CHB][hapmap]
rs1144927	0.82[CHB][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2236684	0.83[CHB][hapmap]
rs602922	0.82[CHB][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs619586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs656605	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681402	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
2	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
3	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
4	nsv897717	chr11:65140209-65278461	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	942 gene(s)	inside rSNPs	diseases
5	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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	1003 gene(s)	inside rSNPs	diseases
6	nsv541067	chr11:65142779-65313799	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	950 gene(s)	inside rSNPs	diseases
7	nsv541068	chr11:65142779-65331136	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	953 gene(s)	inside rSNPs	diseases
8	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
9	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
10	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
11	nsv897719	chr11:65157094-65335705	Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
12	nsv541072	chr11:65171202-65313799	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	946 gene(s)	inside rSNPs	diseases
13	nsv541073	chr11:65171202-65331136	Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
14	nsv541074	chr11:65171202-65368787	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	961 gene(s)	inside rSNPs	diseases
15	nsv541075	chr11:65210592-65331136	Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	620 gene(s)	inside rSNPs	diseases
16	nsv541076	chr11:65210592-65397058	Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	645 gene(s)	inside rSNPs	diseases
17	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
18	nsv555210	chr11:65266169-65287251	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	574 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	chr11:65267800-65274800	Transcr. at gene 5' and 3'	A549	lung
2	chr11:65267800-65274800	Transcr. at gene 5' and 3'	NH-A	brain
3	chr11:65267800-65275000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:65267800-65275000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
5	chr11:65267800-65275000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
6	chr11:65267800-65275000	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
7	chr11:65267800-65275200	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
8	chr11:65267800-65275400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:65268000-65274800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:65268000-65274800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
11	chr11:65268000-65275400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:65268200-65274800	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
13	chr11:65268400-65275000	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
14	chr11:65270000-65274800	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:65270000-65275400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
16	chr11:65270800-65278200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr11:65270800-65279800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:65271400-65275000	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
19	chr11:65272000-65274800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr11:65273200-65276400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:65273200-65277000	Weak transcription	Gastric	stomach
22	chr11:65273400-65275000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:65273400-65275200	Genic enhancers	Fetal Thymus	thymus
24	chr11:65273400-65275400	Active TSS	NHLF	lung
25	chr11:65273400-65276400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:65273600-65275000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:65273600-65275000	Enhancers	HepG2	liver
28	chr11:65273600-65275200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:65273600-65275600	Active TSS	Right Ventricle	heart
30	chr11:65273800-65274800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:65273800-65274800	Weak transcription	Spleen	Spleen
32	chr11:65273800-65275000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr11:65273800-65275000	Genic enhancers	Fetal Stomach	stomach
34	chr11:65273800-65275200	Genic enhancers	Fetal Muscle Leg	muscle
35	chr11:65273800-65275400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:65273800-65275400	Genic enhancers	Fetal Brain Male	brain
37	chr11:65273800-65275400	Flanking Active TSS	HUVEC	blood vessel
38	chr11:65273800-65275400	Active TSS	Osteobl	bone
39	chr11:65273800-65275600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr11:65273800-65276200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:65273800-65276400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:65273800-65276800	Weak transcription	Psoas Muscle	Psoas
43	chr11:65274000-65274800	Active TSS	HSMM	muscle
44	chr11:65274000-65275000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr11:65274000-65275200	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr11:65274000-65275200	Enhancers	Fetal Heart	heart
47	chr11:65274000-65275400	Enhancers	Brain Angular Gyrus	brain
48	chr11:65274000-65275600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:65274200-65274800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr11:65274200-65274800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived

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